Glossary

Deux soeurs

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

A

“Anti-Perruche” law

Law dated 4 March 2002, named as such because it was passed to overturn the jurisprudence of the Perruche decision (17 November 2000). It covers the rights of ill persons and the quality of the healthcare system. It added to the French Family and Social Code a provision stipulating that “No one may claim damages by virtue simply of being born” and “the expenses of a disability all during the child’s life are part of national solidarity” (Article L.114-5 of the French Family and Social Code).(Consult the Legifrance website:http://www.legifrance.gouv.fr).

Abortion

This is the premature death of the embryo or foetus during its development. One refers to spontaneous or miscarriage when the death is not induced. One refers to induced abortion when the life of the embryo or foetus is voluntarily ended. Worldwide, there are 50 million induced abortions per year. In France, there are 220,000 per year and nearly 8 million in total since the 1975 law permitting abortion (Veil Law). In France, the time limits for abortion are: 3 months (14 weeks of amenorrhea) for a voluntary termination of pregnancy (VTP) until the end of the 9th month for a medically induced termination of pregnancy. In France, 96% of Down syndrome foetuses are aborted in an induced way.

Accommodation

(medical) Adjustment of the lens of the eye that makes it possible to see. 

AEEH (French Handicapped Child Education Allowance)

Since 1stJanuary 2006, the French Handicapped Child Education Allowance (AEEH) replaces the Special Education Allowance (AES). This financial aid is for parents of handicapped children under 20 years old with a disability of at least 50% (persons with a clear intellectual disability, such as Down syndrome persons, are generally recognised as having 80% disability). It is intended to cover certain expenses and needs caused by the handicap and not covered by the Social Security system. It is up to parents to request the aid by completing a dossier with the French MDPH (French Departmental Office for Disabled Persons). (Consult the Service-Public.fr website): http://vosdroits.service-public.fr).

Aggressive medical treatment

This is continuing a treatment which has become pointless in view of the patient’s condition. However, pursuing treatment is always indispensable. A physician must avoid unreasonable obstinacy, for example a treatment which has shown to be ineffective or which has the sole objective of artificially prolonging the patient’s life. On the other hand, he should not abandon care that allow the ill person to maintain his basic needs: bathing and cleanliness, eating, hydration, soothing pain, relations, etc.

Alopecia

Loss of patches of hair. 

Amblyopia

(medical) Lessening of visual acuity.

Amenorrhea

The absence of menstrual periods. The beginning of pregnancy is the date of fertilisation, usually about fifteen days after the first day of the last period. The practice is to count the duration of pregnancy in weeks of amenorrhea. This duration can be measured beginning on the presumed date of fertilisation, counting in months of pregnancy. Thus, 10 weeks of amenorrhea generally corresponds to 2 months of pregnancy, but that can vary from one woman to another and the gynaecologist can define the corresponding time more precisely.

Amniocentesis

This is the medical withdrawal of amniotic fluid which can be done starting at 14 weeks of amenorrhea. As part of prenatal diagnosis, foetal cells are sought in the amniotic fluid in order to determine the child’s karyotype. This delicate examination causes the death of the foetus in 0.2% to 1% of the cases. Complications are essentially due to a fissure in the membranes around the foetus or amniotic sac, which can cause a loss of amniotic fluid through the vagina, requiring the mother’s hospitalisation. If the breach does not spontaneously close off, there is a serious risk of termination of the pregnancy.

Amniotic fluid

Fluid surrounding and protecting the baby during pregnancy, which flows out upon birth at the moment of the waters breaking. It contains foetal cells.

Artificial insemination

It is one of two methods of medically assisted procreation, together with in vitro fertilisation. The sperm is collected and then introduced directly into the woman’s cervix. Fertilisation takes place in the Fallopian tubes. The rest of the pregnancy proceeds normally.

Associated Down syndrome

Down syndrome (trisomy 21) is sometimes associated with another numerical chromosome anomaly, most often a sex chromosome: Down syndrome and Klinefelter syndrome (XXY), or Down syndrome and Triple X (XXX). These cases are rare and the expression of these diseases is almost identical to that of free and homogenous Down syndrome.

Astigmatism

(medical) Anomaly in the form of the eye resulting in a deformation of the image’s width and height.

Atresia of the duodenum

(medical) Interruption of the small intestine just after the stomach outlet. It is treated surgically.

Atrioventricular canal (AVC)

(medical) Complex cardiac defect often found in Down syndrome.

Aubry law

Dated 4 July 2001, the law concerning the voluntary termination of pregnancy and contraception increased the time for abortion from 10 to 12 weeks (12 -14 weeks of amenorrhea). It eliminated parental approval for minors, made optional an interview prior to abortion for of-age women and put pressure on physicians who wish to exercise their conscience clause.(Consult the Legifrance website:http://www.legifrance.gouv.fr/).

Auto-immune

See “Auto-immune disease”

Autoimmune disease

Disease related to abnormal production of antibodies by the immune system against the elements of the organisation itself.

Autosome

This refers to chromosomes which do not determine sex (the first 44 chromosomes).

AVS (Learning support assistant)

A person helping with schooling, accompaniment, socialisation and safety of children with handicaps or an incapacitating health problem. They can be assigned to a pre-school, elementary or secondary school, either for all students (AVS-co: group learning support assistant) or for a specific student (AVS-i: individual learning support assistant).They can be assigned to a CLIS (Class for Educational Inclusion), a ULIS (Local Unit for Educational Inclusion); in a middle/secondary school, the ULIS at the secondary school level is often in a vocational school) or an ordinary class.(Consult the Service-Public.fr website):http://vosdroits.service-public.fr).

 

 

B

 

Bases

(genetics) DNA (deoxyribonucleic acid) and RNA (ribonucleic acid) are made up of a chain of neighbouring molecules called “bases”. In DNA there are four: adenine, thymine, guanine and cytosine (ATGC) In RNA there are also four: adenine, uracil, guanine, cytosine (AUGC)

Biochemistry

Chemical reactions in living organisms.

Biopsy

Withdrawal of tissue to be observed under a microscope and analysed.

Blastocyst

The name given to an embryo during the stage from 5 to 7 days after fertilisation. It is at the stage of its existence that the embryo implants itself in the maternal uterus.

Blepharitis

(medical) Inflammation of the eyelids.

Blood count

Examination allowing, through a blood test, to count red blood cells (RBCs), white blood cells (leukocytes), platelets and identification.

Brushfield spots

In Down syndrome persons, the iris, if it is light, can have typical white spots called Brushfield spots. 

Bruxism

A term meaning grinding of the teeth. Some Down syndrome children also have this behaviour, which is natural, and which can be treated.

 

 

 

C

 

CAMSP (Centres for Early Medico-Social Action)

A centre with a multidisciplinary medical, paramedical and educational team: physician, physical therapist, speech therapist, psycho-motor skills therapist, etc. This team accompanies the parents of children suffering from diseases like Down syndrome, for care and follow-up from 0 to 6 years. After 6 years, the SESSAD takes over (the French Special Education and Home Care Service). (Consult the Service-Public.fr website): http://vosdroits.service-public.fr).

CAT (Work Assistance Centre)

Medico-social establishments that receive persons with a mental disability. They have been replaced by work assistance establishments (ESAT). Disabled persons work professionally there. These structures allow the person to maintain his leanings and progress in an environment where he is supported and accompanied.

Cataract

(medical) Clouding of the lens (the lens permits accommodation). It is said to be congenital when it is present from birth.

CBS

One of the genes on chromosome 21, it is present in 3 copies instead of 2 in the karyotype of patients with Down syndrome.

This gene codes for the enzyme called Cystathionine-β-synthase (CBS): in other words, it is at the origin of the synthesis (production) of this enzyme. This CBS enzyme regulates very important biochemical reactions in the cell. In the context of Down syndrome, the quantity of the CBS gene is excessive, and brings about an excess of CBS enzyme which itself causes major disturbances in the biochemical reactions of the cell, especially in the brain.

Inhibiting the excessive activity of CBS should therefore improve cellular functioning and, consequently, lessen the intellectual disability of Down syndrome persons.

CCNE (French National Advisory Committee on Ethics)

The mission of the National Advisory Committee on Ethics for life sciences and health is to advise on moral issues which often arise from research in biology, medicine and health, whether the issues concern Man, social groups or all society. It is at the heart of societal debates and seeks to enlighten the progress of science, bring up new societal issues and take an ethical look at these developments. One of its objectives is to have citizens participate in ethical reflections and permit them to understand the ethical stakes raised by scientific advances in life sciences and health.

The Committee strongly denounced the French Supreme Court after its Perruche decision: “Recognising the right of a child not to be born under some conditions is highly debatable from a legal point of view and a formidable option in ethical terms. Such a right could weigh heavily on parents, prenatal diagnosis professionals and obstetricians with a normative pressure that is basically eugenic.” (CCNE, Handicaps Congénitaux et Préjudice, Avis no. 68, 29 mai 2001). (Consult the CCNE website: http://www.ccne-ethique.fr/).

CCPA (District Commission for Pre-School and Elementary schools)

This authority was replaced in 2005 by the CDAPH, the Commission for the Rights and Autonomy of Disabled Persons. Originally this commission helped in the realm of orientations to pre-school and elementary schools.

CCSD (District Commission for Secondary Schools)

This authority was replaced in 2005 by the CDAPH, the Commission for the Rights and Autonomy of Disabled Persons. Originally this commission helped in the realm of orientations to secondary schools.

CDAPH (Commission for the Rights and Autonomy of Disabled Persons

An authority of the MDPH (Departmental Office for Disabled Persons) which since 2005 has united the former CDES, COTOREP, CCPE and CCSD. This commission has the authority to recognise the rights of disabled persons, whether concerning allowances, disability cards or orienting them towards a social or medico-social establishment.(Consult the Labour Ministry website: http://travail-emploi.gouv.fr).

CDES (Departmental Special Education Commission)

This authority was replaced in 2005 by the CDAPH, the Commission for the Rights and Autonomy of Disabled Persons. Originally this departmental authority was intended to help disabled children and adolescents, from birth to 20 years usually. Beyond 20, the persons were sent to COTOREP (Technical Commission for Professional Orientation and Classification). The CDES oriented them towards special education establishments and provided the special education allowance and disability card.

Cell therapy

This is the term for cell transplants intended to restore the functions of a tissue or organ when they have been altered. These therapies have benefited from recent scientific advances on stem cells. In this context, adult stem cells are already used for treatment of blood diseases (leukaemia), the repair of wounds and burns, repairs of tendons and tissue engineering (rebuilding of the trachea). Some adult stem cells, especially in the cord, allow restoration of the cells of the vessel walls. Some are being evaluated for treatment of children with cerebral palsy, Krabbe’s disease, etc. If advances in stem cells have been of benefit for these diseases and provide hope in rebuilding organs (regenerative medicine), it must be remembered that stem cells do not cure all diseases.

Centromere

Narrowed part of the chromosome (centre of the X shape).

Chorionic villus sampling

Also called trophoblast biopsy; by removing a fragment of placenta, it allows a karyotype to be done earlier in pregnancy, during the first trimester. The risk of miscarriage is from 0.5% to 1%.

Chromosome

Structure of the cell nucleus containing the genes: it is the form taken by the genetic material in cells. It is made up of long chains of DNA (deoxyribonucleic acid) A human being normally has 46 chromosomes. The chromosomes contain all the hereditary characteristics of each person and are essentially made up of deoxyribonucleic acid (DNA) and proteins. These 46 chromosomes are arranged in a certain way: 44 and 2. 44 chromosomes are organised in 22 chromosomal pairs in both sexes, also called autosomes. These pairs are numbered from 1 to 22 and have the particularity of not having genes that determine sex. They are classified by size, from the largest to smallest. Thus chromosome 21 belongs to the 21st pair. Finally, 1 pair of sexual chromosomes that determines sex: XX in women and XY in men.

A chromosomal disorder is a defect in number or structure affecting one or several chromosomes and resulting in consequences deleterious to health. Some chromosomal diseases are due to the existence of extra (like Down syndrome) or lacking (like monosomy) chromosomes.

In Down syndrome, chromosome 21 is present in 3 copies instead of two, which leads to the excessive presence of genes on this chromosome (around 300), thus destabilising the overall functioning of the organism.

The structural defects can be:

  • A deletion: a part of the chromosome is missing
  • Duplication: part of the chromosome is duplicated
  • A translocation: an entire or part of a chromosome is fixed to another chromosome
  • A reversal: a piece of chromosome is reversed, but not in the right way

CLIS (Local Unit for Educational Inclusion)

This unit is an integral part of the overall provisions for special education in France; it is in an ordinary school. The goal of the CLIS is to have all students in school and allow those with problems to follow school curricula, completely or partially. They have a maximum of 12 students, usually from the end of Cycle 1 (end of the middle section of pre-school).

There are four types of CLIS: CLIS type 1 (or D) is intended for children presenting severe problems of cognitive function. (Consult the National Education Ministry website: http://www.education.gouv.fr).

Cloning

This is a manipulation intended to reproduce, non-sexually, a being genetically identical to the original. The nucleus of an oocyte is replaced by the nucleus of a non-sexual cell of the being to be cloned. Theoretically one distinguishes between reproductive cloning intended to reproduce a being to be born, such as Dolly, from cloning called “therapeutic”, which is cloning used for research in which the development of the embryo is stopped at the age of one week in order to use the stem cells. Currently the international legislative trend is to prohibit human cloning.

CNSA (French National Solidarity Fund for Autonomy)

This public establishment is a fund, an agency and a public area for exchanges concerning autonomy of aged and disabled persons. The CNSA has three missions:

Financial aid for dependent aged persons and handicapped persons.

2) A guarantee of equality of treatment throughout the country and for all handicaps.

3) The ensuring of expertise, information and action to monitor the quality of services to such persons

(Consult the CNSA website: http://www.cnsa.fr).

Code of medical ethics

All the decrees codifying the professional obligations of physicians. It is contained in the French Public Health Code. It can be consulted on the Legifrance website (http://www.legifrance.gouv.fr), as well as in a paper version in the Official Journal available from different publishers.

Article 8 provides: “Within the limits set by law, the physician is free to make prescriptions that he deems the most appropriate for the circumstances”. Article 47 provides: “Except in emergencies and where it would be against his duty to humanity, a physician has the right to refuse treatment for professional or personal reasons” which refers to conscientious objections.

Coma

Persons in a deep and persistent coma (sometimes called a vegetative state) are not usually deceased persons because they still have brain activity. The respiratory system may even be naturally active in some of them. Therefore a deep coma with brain activity must be distinguished from death.

Congenital

A congenital defect is one present from birth, regardless of the cause (hereditary, viral, poison, etc.)

Down syndrome is a constitutional illness because it is combined with a particular constitution, the presence of an extra chromosome 21.This constitutional illness may be combined with congenital defects, with or without malformations (heart disease, digestive malformation, congenital cataract, etc.) But it can also be combined with medical problems arising during life: thyroid anomaly, epilepsy, keratoconus (deformation of the cornea), etc. It is combined with an intellectual disability that is constant. Not all manifestations linked with Down syndrome are therefore all present at birth, but can appear later. This justifies regular monitoring of patients by physicians who know what anomalies to look for at each stage of life.

Congenital glaucoma

Abnormal increase of the fluid pressure inside the eye, present at birth. It must be quickly treated to avoid decreased vision in the affected eye.

Conscientious objection

The law allows conscientious objection by healthcare professionals facing what they consider to be unethical. Article 47 of the Code of Medical Ethics provides: “Except in emergencies and where it would be against his duty to humanity, a physician has the right to refuse treatment for professional or personal reasons”.

Because of infringements of human life brought about by research on human embryos, for example, “no researcher, engineer, technician or research aide of any kind, no physician or medical aide is required to participate in any research on human embryos or embryonic cells”.

Contraception

The means intended to prevent fertilisation are called contraception. The most well-known are the condom, the contraceptive pill, the intrauterine device and spermicides. In addition to the fact that these methods do not prevent fertilisation 100% and can cause an abortion (like the pill or IUD), the contraceptive mentality leads to accepting abortion more easily.

One often says that contraception is the most efficient remedy against abortion, but statistics confirm that increasing birth control does not decrease the number of abortions. France has one of the highest rates of contraception in Europe and performs 220,000 abortions annually.

Contraceptive Pill

All contraceptive pills lead to a percentage of early abortions. The classic pills (combined or estrogen/progestin) act as contraceptives when they block ovulation and modify the cervical mucus to make it hostile to sperm. But when one of these mechanisms is not enough (1 time out of 10 ovulation is not blocked) a third effect of the pill takes over: the modification of the uterine lining to prevent implantation of the embryo. This is effectively an abortion because the embryo dies. Pills with mini-doses and progestin-only contraceptives (“mini-pill”, “morning after pill” or emergency contraception, contraceptive shots and contraceptive implants under the skin) have the same effect, but are much stronger. In this case abortion takes place without the woman even being aware of it.

Cord (umbilical cord)

(medical) Umbilical cord connecting the foetus to its mother through the placenta and through which the baby is fed, breathes and eliminates waste during pregnancy.

Cordocentesis

A less common antenatal examination consisting of a withdrawal of foetal blood from the umbilical cord, by puncturing through the mother’s abdominal wall. Performed with ultrasound guidance, it is possible only after the nineteenth week of amenorrhea and presents a risk of miscarriage of 1.5% to 3%. It is indicated when amniocentesis and a chorion villus sampling (trophoblas biopsy) have not resulted in a conclusive diagnosis or to specify a diagnosis for a treatment such as in the case of toxoplasmosis.

COTOREP (Technical Commission for Professional Orientation and Classification)

This authority was replaced in 2005 by the CDAPH, the Commission for the Rights and Autonomy of Disabled Persons. Originally this commission was for adults with handicaps from 20 years old (16 in case of this entering working life). It helped to draw up an appraisal of their aptitudes, orient them and decide on financial and social aid.

CPDPN (Multidisciplinary Centre for Prenatal Diagnosis)

Medical structure which is the only one authorised to advise before authorisation for abortion for medical reasons, i.e. to perform a medical interruption of pregnancy. “[The medical interruption of pregnancy may] be performed at any time if two physicians that are members of a multidisciplinary team attest, after such team has provided its advice, that the continuation of the pregnancy would put the health of the woman in grave danger, or there is a strong probability that the child would be born with an affection of particular severity recognised as incurable at the time of the diagnosis” (Article L.2213-1 of the French Public Health Code).(Consult the CPDPN website:: http://www.cpdpn.com).

Cri du chat syndrome

This syndrome is caused by the loss of a segment of different sizes from the short arm of chromosome 5. It can come from a non-hereditary genetic accident or a chromosomal rearrangement in one of the parents. This disease was discovered by Professor Lejeune in 1963 and got its name because the cry of the new-borns with it had same sound as that of a kitten, linked to a reduction in the diameter of the larynx. It is a rare disease, affecting one new-born out of about 50,000.

This chromosomal defect brings about, in addition to a high pitched voice, microcephaly, a small chin, divergent strabismus and an often severe intellectual disability, a delay or absence of language and behavioural problems in about 30% of them. Young children often have hyperactive behaviour which stabilises with age. The most common medical complications are digestive, dental and orthopaedic (severe scoliosis). Strictly speaking there is no treatment other than those for complications, but educative and re-educative follow-up (physical therapy, psychomotor skills therapy, speech therapy) can noticeably improve the prognostic.

Criteria of death

Since 1968, the date of the Harvard Report, the determination of death is based not only on the definitive loss of spontaneous activity of the cardio-respiratory system, but also on the cessation of brain functions. Only the total and irreversible destruction of the entire brain (and not only the cortex) authorises a certification that a person is truly dead.

CSP (Public Health Code)

See “Public Health Code (CSP)

 

 

D

 

Disability

The law for equality of rights and opportunity, participation and citizenship of disabled persons, or the “disability” law (promulgated on 11 February 2005, consult the Legifrance website:http://www.legifrance.gouv.fr), provides this definition of disability: “A disability, for purposes of this law, means any limitation of activity or restriction in participating in societal life encountered in his environment by a person due to a substantial, lasting or permanent alteration of one or several physical, sensory, intellectual, cognitive or psychological functions, multiple disabilities or a disabling health problem”. A disability is defined depending on the situation in which a person finds himself and not depending on the alteration of any of his functions. Thus, at night, a blind person has no disability.

This law allows us to understand that a disability is a difference between what a person is capable of doing and what he must do. The smaller the difference, the smaller the disability. Down syndrome (trisomy 21) disease, for example, includes an intellectual defect which brings about an incapacity to think normally, which in some situations will result in a disability of not being able to think normally in those situations.

Down syndrome is a complex genetic disease bringing about multiple disabilities. The same is true for diseases of the same type like haemophilia, Williams-Beuren syndrome, myopathy and many others. They are genetic diseases resulting in disabilities, but they are not disabilities themselves. A disease can be treated whereas a disability is observed. Referring to genetic diseases with intellectual disabilities is the first step in fighting against the inevitability associated with the word disability. Speaking about the disease is to recognise that it is possible to do something through therapeutic research.

Disability card

An 80% disability rate is in most cases recognised for persons with serious genetic intellectual disabilities such as Down syndrome. As such, they can take advantage of a disability card and also request a European parking card (previously a GIC badge –civilian with major disability). The request for a disability card is made at the MDPH (Departmental Office for Disabled Persons). Delivered with a validity of five years, it is reviewed periodically according to the evolution of the handicap. The law provides 90 days for the card renewal request. If it is not granted, the application and its refusal can be reviewed at the MDPH. The disability card gives the right to an additional one-half tax share deduction. (Consult the Service-Public.fr website): http://m.vosdroits.service-public.fr).

Disease

A disease is an alteration of health and functioning of living beings. Down syndrome (trisomy 21) is therefore indeed a disease because the presence of an extra chromosome 21 brings about organic and functional alterations whose association and evolution are characteristic to it. It is a complex genetic disease bringing about multiple disabilities. The same is true for diseases of the same type like haemophilia, Williams-Beuren syndrome, myopathy and many others. They are genetic diseases resulting in disabilities, but they are not disabilities themselves. A disease can be treated whereas a disability is observed. Referring to genetic diseases with intellectual disabilities is the first step in fighting against the inevitability associated with the word disability. Speaking about the disease is to recognise that it is possible to do something through therapeutic research.

DNA (Deoxyribonucleic acid)

A molecule of genetic coding structured in two double chains joined by a series of steps to form twisted ladder; each steps called a “base”. DNA is the main component of chromosomes. Genes are segments of DNA. It bears genetic and RNA (Ribonucleic acid) code, which themselves code for proteins.

Down syndrome

The English name for Down syndrome (trisomy 21), inspired by the name of the nineteenth century English physician, John Langdon Down, who published brief research on the subject.

Down syndrome (trisomy 21)

It is the leading cause of genetic disease with intellectual disability: on average worldwide this pathology concerns 1 baby conceived out of 700 to 1,000. It is estimated that about 60 million persons actually have Down syndrome, including 50,000 in France. In the last few years, their life expectancy is close to that of the general population. It is a disease caused by a chromosomal defect resulting from the presence of three 21st chromosomes in the cells whereas they should be in pairs. This leads to the excessive presence of genes in this chromosome (around 300), thus destabilising the overall functioning of the organism. Down syndrome is a complex genetic disease bringing about multiple disabilities. It is a disease of the same type as haemophilia, Williams-Beuren syndrome, myopathy and many others. They are genetic diseases resulting in disabilities, but they are not disabilities themselves. A disease can be treated whereas a disability is observed.

This chromosomal disease is the subject of general screening, which leads to certain eugenic practices. The decision of 23 June 2009 provides: “Any pregnant woman regardless of her age will be informed of the possibility of a combined screening to evaluate the risk of Down syndrome for the child to be born”. The wording is imperative and the proposition of screening is obligatory for the physician. A simple sonogram allows a measurement of the thickness of the neck, a warning sign of Down syndrome. The case of Down syndrome is special because the proposal of screening has, as almost the only consequence, an abortion for medical reasons. By targeting and stigmatising a single pathology and eliminating practically all those with it, this decision which organises eugenic practices leads to organising a selection of persons with Down syndrome, which is against the law (see Article 16-4 of the French Civil Code, which says:“Any eugenic practice leading to the organisation of a selection of persons is prohibited.”).

Down syndrome from translocation

Among the 5% of Down syndrome (trisomy 21) cases that are neither free, complete and homogenous Down syndrome (93%), nor mosaic Down syndrome (2%),  the extra 21st chromosome, instead of being free, is joined to another chromosome (13,14, 15 or 22). The term “translocation” means that a chromosome has been abnormally joined to another. In half the cases this translocation appears accidentally in the child. In the other half of the cases, one of parents has this translocation, but in a balanced way with two 21st chromosomes.  The term “balanced” means that this parent has the correct number of chromosomes, but arranged in a particular way (translocated). He therefore has no particular problem. However, he risks transmitting an extra 21st chromosome to his child. This particularity is important to know for genetic counselling.

Duodenal stenosis

(medical) Narrowing of the duodenum.

Duodenum

(medical) Portion of the digestive tract after the stomach, beginning of the small intestine.

Dynamic X-ray

(medical) X-ray image in an extreme position, such as flexion or extension of the head (in different positions).

 

E

 

Early education

A term for the development of therapies from the first year of life. It involves monitoring the overall development of the child, avoiding as much as possible that unhealthy evolutions linked to an intellectual disability develop or worsen, and help the child communicate with the external world from his first months.

Embryo

(See also: “Embryo research”) It is a living organism resulting from fertilisation. The human embryo is a living being with a human genetic heritage. It is thus a human being whose life begins at fertilisation. Some speak of a “cluster” as opposed to an “organism”. But, from the beginning, the embryo is a living being organised to construct itself continually. The place of penetration by the sperm into the oocyte already orients the position of the embryo in the egg (head, feet, etc.).From fertilisation, the embryo triggers a chain of events (expression of its genetic code, synthesis of proteins) toward its development. It produces hormones which stop the mother’s menstrual cycle and begin to prepare the mother’s breasts, etc. The embryo is therefore not a cluster of cells. The embryo is a human being from fertilisation, because the unique human genetic heritage of the person is determined at that moment. If mankind does not begin at fertilisation, it never begins because where would this new information come from?

We also know without a doubt that the foetus (the term for the embryo after two months of pregnancy) can feel pain from the second trimester of pregnancy. There are more than 165,000 frozen embryos resulting from in vitro fertilisation in France. On 18 October 2011 the European Court of Justice prohibited the patenting of a process using human embryos and leading to their destruction.

Embryo research

Human embryo cells and iPS cells (induced pluripotent stemcells ) are not used to treat patients. They are used to model diseases and screen molecules, which is useful in medical research. However, recent work has shown that iPS cells may also provide therapeutic results – for example, the successful repair of myocardialdamage in mice.

Embryonic reduction

Embryonic reduction is, in the case of multiple pregnancy (twins, triplets, etc.) the elimination of one of the foetuses so that the pregnancy will have less risk of complications.

Endocarditis

(medical) Infection of the internal wall of the heart.

Endoscopy

(medical) Exploration to visualise the interior of the organism and to withdraw samples by introducing a small, flexible optical device.

ENT (Otolaryngology)

Branch of medicine specialised in the treatment of the upper air passages (nose, throat, ears).

Enuresis

(Larousse) “Involuntary and unaware nocturnal emission of urine by a potty-trained child who does not have organic lesions on the urinary tracts.” »

Epicanthus

(medical) Fold of skin which looks like a third eyelid, found in some Down syndrome persons. The bridge of their nose may be wide due to the under development of the nose and may accompany this skin fold.

ESAT (Work Assistance Establishments )

They have been replaced by Work Assistance Centres (CAT). They allow disabled persons without sufficient autonomy to work in a normal setting, including in a company with adaptations, or independently and to pursue employment in a protected environment. Depending on their needs, these persons benefit from a medico-social and educational follow-up. The ESATs are often equipped with a hostel.

An orientation by the Commission for the Rights and Autonomy of Disabled Persons (CDAPH) to an ESAT is the recognition of a disabled worker status. To be accepted in an ESAT, the person must meet the following cumulative conditions: be at least 20; have a capacity for work less than 1/3 of the capacity of a non-disabled person to earn or work or, for a person whose capacity for work is equal to or above 1/3: need one or more medical, educational, social or psychological supports; be oriented to this type of structure by the CDAPH. As an exception, the CDAPH may decide to orient someone to an ESAT from 16 years old.(Consult the Service-Public.fr website): http://vosdroits. Service-public.fr).

Eugenics

In France one often talks of eugenics with respect to prenatal diagnosis because it very often involves a “mass screening” and thus often results in an abortion (medical termination of pregnancy). This is especially true for Down syndrome children who are aborted in 96% of cases.

Thus a certain practice of medicine, with the help of the law, has progressively swung from protecting health to the elimination of certain human beings because of their genetic heritage. This downward spiral is reminiscent of the criminal methods of certain eras concerning persons with intellectual disabilities.

European parking card

(Previously GIC badge – Civilian with major disability). It is granted if the handicapped person is dependent and needs accompaniment. To request one from the MDPH (Departmental Office for Disabled Persons), you will need a medical certificate. (Consult the Service-Public.fr website): http://m.vosdroits.service-public.fr).

Euthanasia

This is always a deliberate act or omission with the intention of bringing about the death of the patient. For example, injecting a lethal substance or stopping basic care (feeding, hydration). Rather than bringing about death under the pretext of stopping suffering, pain should be relieved until a natural death. In France the law prohibits euthanasia (Léonetti law) even though it is ambiguous on the obligation to maintain feeding and hydration. It distinguishes these two elements from natural care, which is owed to the patient, and considers them as treatments which may be interrupted at the patient’s request. But their elimination condemns a sick person to die of hunger and thirst.

The distinction between active and passive euthanasia is not justified and clouds the debate. It is always euthanasia by act or omission if there is a willingness to bring about the death of the patient (by injecting a lethal substance or abstaining from administering a beneficial treatment).

F

 

Faecal impaction

 

(medical) Blockage of faeces in the rectum (terminal part of the digestive tract).

Family and social code

The legislative and regulatory provisions on social action and the family. It regulates social solidarity with families and the marginalised categories of society. It can be consulted on the Legifrance website (http://www.legifrance.gouv.fr), as well as in a paper version in the Official Journal available from different publishers. After the “anti-Perruche” law of 4 March 2002, this Code provides: “No one may claim damages by virtue simply of being born” and “the expenses of a handicap all during the life a child are part of national solidarity” (Article L.114-5 of the French Family and Social Code).

Fertilisation

A new human life begins at this moment when all information brought by the father’s sperm is united with that brought by the mother’s oocyte. A new being begins its existence upon being created through fertilisation. The unique genetic heritage of a person, including its sex, is determined at that moment. Not a theoretical human, but the first stage of development of a little boy or girl.

FISH (Fluorescence in situ hybridization)

Technique to mark segments of chromosomes to rapidly make certain diagnoses, such as for Down syndrome.

Foetus

 

The term for the embryo from two months of pregnancy. It measures approximately 35 millimetres. The brain and other organs are individualised. Today we know without a doubt that the foetus feels pain from the second trimester of pregnancy.

Fragile X syndrome

 

This hereditary genetic disease is linked to a mutation of the gene (FMR1) whose function is still poorly understood. The gene is in the X chromosome. The percentage of the disease is around 1/4,000 boys and 1/8,000 girls.

The mutation consists of an abnormal copying of one part of the gene, which is unstable and the disease will appear only if this mutation is sufficiently high. Physical signs are not very marked, other than major ligamentous laxity. The most common medical problems for the patients are repeated ear infections, ophthalmological and orthopaedic problems and behavioural problems with autistic traits.

Intellectual disability is always present in boys with varying degrees of intensity, either together with behavioural problems or not. Intellectual disability is present in 50% of the girls with a complete mutation. Problems for girls may be limited to learning disabilities and problems with language or attention. There is not yet a cure other than treating the medical complications. Good educational and therapeutic care improve the prognosis. Genetic counselling is very important for this illness.

Free, complete and homogenous Down syndrome

 

The genetic error occurs most frequently during meiosis (cell division) at the moment when the chromosome pairs must separate to join each cell. For unknown reasons, one of the 21st chromosomes goes the wrong way and one germ cell receives two of them instead of one. The first cell resulting from a fertilisation between the germ cell containing two 21st chromosomes and a normal germ cell (containing a single 21st chromosome), will have 47 chromosomes. All the organism’s cells, daughter cells of this first cell, will therefore have three 21st chromosomes. It a free complete and homogenous Down syndrome (trisomy 21) which concerns 90% of Down syndrome children. It is free because the 21st chromosome is not joined to another chromosome, complete because the chromosome is complete and homogenous because all the organism’s cells inherited this makeup.

G

 

 

Gametes

 

Reproductive cells whose only function is to conceive a new human being and transmit the genetic heritage of the father and mother. For girls it is an oocyte and for boys, sperm.

Gene

 

Chromosomal segment coding for RNA (ribonucleic acid) and a protein. It is the smallest unit of genetic information.

Genetic counselling

 

It is intended to inform parents of the risk of appearance or recurrence of a genetic defect in one of their children. It is provided by a geneticist who explains to the parents the genetic defect in the child, its medical consequences and what can be done to help the child. Depending on the defect, the geneticist will sometimes prescribe examinations of the parents in order to estimate the risk of recurrence of the genetic disease for a later child. Concerning Down syndrome, the explanations and indications of the physician will vary depending on the type of Down syndrome.

1) Free, complete and homogenous Down syndrome:

This is the majority (95%) of Down syndrome children. It often is a matter of an accident. The risk of recurrence, if the karyotype of the parents is normal, is theoretically that of the general population of the same age, but some studies have shown a higher risk, of about 1%. The karyotype of the parents may be abnormal: a small mosaic Down syndrome may be in one of the parents. This means that such parent may have a small amount of Down syndrome cells but manifests no detectable medical sign. The risk of recurrence depends on the chromosomal constitution of the germ cells (sperm and oocyte). However, for technical reasons, it is not possible to study these cells which are difficult to access and to culture. If one of the parents has mosaic trisomy, the risk is theoretically higher than in the general population of the same age.

One of the parents may also have a balanced chromosomal rearrangement (therefore with no pathological consequence for him) involving a chromosome other than 21 (translocation of 13-14 for example). In some cases, even if the rearrangement does not concern chromosome 21, the risk of having a child with it is perhaps higher than in the general population of the same age. In such a situation, in addition to the risk of Down syndrome, the physician will estimate the risk for the couple to have a child with another chromosomal defect, which will depend on the rearrangement in one of the parents.

2) Mosaic trisomy:

Since it seems the mechanism is the loss of a chromosome 21 in the Down syndrome foetus, the risk is the same as for homogenous Down syndrome. Therefore, it depends on the karyotype of the parents.

3) Trisomy from translocation:

If the karyotype of the parents is normal, the risk is the same as that of the general population of the same age. If one of the parents has a translocation, the risk of having a Down syndrome child is from 2% to 5% if the father has the translocation and from 20% if it is the mother. In the case where one of the parents has a translocation between two chromosome 21s, the children can have Down syndrome only by translocation 21-21, or they will monosomic 21 (a single chromosome 21 in each cell), such condition being incompatible with life.

4) Partial and associated Down syndrome:

Once again, if the karyotype of the parents is normal the risk of recurrence is theoretically the same as that of the general population of the same age. If one of the parents has a balanced chromosomal rearrangement, or another chromosomal particularity (mosaic), the geneticist will evaluate the risk of recurrence case by case.

Genetic intellectual disability

 

A condition accompanying genetic diseases such as Down syndrome, fragile X syndrome, cri du chat syndrome, rare chromosomal defects, Rett Syndrome, Williams-Beuren Syndrome, Prader-Willi syndrome, Angelman syndrome, etc.

In France the Jérôme Lejeune Institute offers specialised consultation for persons with genetic intellectual disabilities. Down syndrome is mainly due to the overexpression of genes due to an extra chromosome 21. The intellectual disability is the main disability and prevents them from being autonomous and living normally. The goal of research on Down syndrome is therefore to develop prevention or a treatment that improves and then normalises the intellectual functions of the ill person.

Genetics

 

The study of genes and molecular biology.

Genotype

 

All the characteristics of a person’s genes (genetic information).

Gluten

 

Food substance present especially in many flours, to which some may be intolerant (coeliac disease).

Glycaemia

 

Blood sugar level.

 

 

H

 

 

Handprints

 

(medical) Small cutaneous reliefs on the fingertips and palms (fingerprints and palm prints). In Down syndrome patients examination of handprints with a magnifying glass shows specific patterns.

Heredity

 

(genetics) Biological characteristics that can be transmitted from parents to their children. A disease is hereditary when it transmits certain rules within a family or several generations. Down syndrome (trisomy 21) is therefore not strictly speaking a hereditary disease. Except in the rare case of Down syndrome women who have children (some 100 medical cases have been identified) have of the children will have it, the others not.

Hirschprung’s disease

 

(medical) Anomaly in the development of the nervous system of the intestinal wall manifesting in alternating diarrhoea and constipation. It is the paralysis of the terminal part of the intestine resulting from the absence of nerve cells in the intestinal wall. Classically it brings about an intestinal occlusion with a dilation of the colon (large intestine); but some partial types of diagnosis sometimes require repeated specialised examinations (X-rays, measuring pressure in the rectum, microscopic study of small pieces of the intestine). It is treated surgically.

HT 21 Test

 

The HT 21 test is a blood analysis for two or three markers detected in the mother’s blood between the 15th and 18th week of amenorrhea, that is from 14 weeks 0 days to 17 weeks and 6 days. These markers are the total HCG or its free beta chain, alpha feto-protein and/or estriol.

The combined interpretation of these tests provides a risk calculation that, if sufficiently high, will lead to proposing to the pregnant woman an amniocentesis to make a definitive diagnosis of Down syndrome (or not). The HT 21 test has two drawbacks related to its reliability:

1) False positive results: the risk calculation can show a high risk when there is no Down syndrome. These false positive results may lead to the loss of healthy children following a poorly done amniocentesis (0.2% to 1% of cases).

2) False negative results: the risk appears normal but there is Down syndrome. This can be mistakenly reassuring. The HT 21 test creates a genuine anxiety in pregnant women at the beginning of their pregnancy, whereas normally they are only slightly concerned.

Hypermobility

 

Ligaments between articulations are too flexible.

Hyperopia

 

(medical) An eye “too short” which allows good distance vision but poor short vision.

Hypothyroidism

 

Hypothyroidism is the consequence of a weak production of hormones by the thyroid gland, the butterfly shaped organ at the base of the neck under the Adam’s apple. The thyroid gland has important influences on the organism: its role is to regulate the base metabolism of our body’s cells. It controls muscular energy, mood, concentration, body temperature, etc. It also determines the speed of the “motor” which runs our cells and organs. In persons with hypothyroidism, this motors runs slowly.

Hypotonia

 

Decreased muscle tone in all or part of the body, which decreases the natural tone of a relaxed muscle (muscular hypotonia). The muscles are flabbier.

 

 

I

 

 

IgA deficiency

 

(medical) Reduction of a particular immunoglobulin fraction, produced by the immune system.

IME (Medico-educational institute)

 

Centres uniting the old medico-educational institutes (IMP) as well as, often, the old medico-professional institutes (IMPro)They accept children and adolescents from 3 to 29 presenting intellectual disabilities linked to neuropsychiatric problems (personality, communication, psychomotor or sensory problems). Many specialised treatments exist depending on individual needs, as well as rehabilitation (speech therapy, psychomotor therapy, physical therapy). (Consult the Legifrance website: http://www.legifrance.gouv.fr).

Immunity

 

(medical) An organism’s defence system, responsible for producing antibodies, used especially in vaccines.

IMP (Medico-educational institutes)

 

This institution has been replaced by the SEES (Specialised section of education and teaching). It accepts children and adolescents from 3 to 14 presenting intellectual disabilities linked to neuropsychiatric problems (personality, communication, psychomotor or sensory problems).

Implantation

 

When an embryo is at the blastocyte stage, between 5 and 7 days after fertilisation, it attaches itself to the lining of the mother’s uterus. However, pregnancy has already started from fertilisation, even if the woman is not aware of it until implantation. It may be prevented by contraception methods such as the intra-uterine device and the morning after pill which then become abortive.

IMPro (Professional medico-professional institution)

 

This institution is now called SIPFP (Section for professional initiation and pre-training). It is a structure, often integrated in a medico-educational institution (IME) intended to receive persons with intellectual disabilities, aged from 14 – 20. Its goal is professional and pre-professional training. They often have a boarding school.

In vitro

 

Latin words with the same meaning as “test tube” in French. It is the opposite of “in vivo” or “life”, i.e. in the maternal womb.

In vitro fertilisation (IVF)

 

This in one of two techniques of medically assisted procreation, using artificial insemination. First the father’s sperm and mother’s oocytes are gathered. The oocytes are put in contact with the sperm in vitro. Fertilisation takes place. Several embryos develop. Out of 10 embryos created, only 1 to 3 are transferred to the mother’s uterus. Then pregnancy progresses normally, unless there are complications. Multiple pregnancies are frequent as well as premature births. The embryos conceived but not transferred are destroyed if they are judged not to be of sufficient quality (an unsatisfactory appearance when viewed by microscope) or frozen, to be transferred later if the parents wish to have another child. If the parents do not wish to use them for another pregnancy, they are maintained frozen for a maximum of 5 years. There are three types of in vitro fertilisation: with a donation of gametes, with ICSI and with a “surrogate mother”. On average, 17 embryos are conceived to obtain 1 live birth; the other 16 die.

In vitro fertilisation with a surrogate mother – or surrogacy

 

“Surrogate mothers” are women ready to “loan their womb” when the woman in a couple cannot be pregnant. The “surrogate mother” carries and gives birth to the couple’s child, conceived in vitro and transferred to her uterus. Upon birth, she gives the child back to the couple, usually for remuneration. Sometimes, the “surrogate mother” becomes pregnant through insemination of the father’s sperm: in this case, she is also the biological mother of the child. Surrogate mothers are illegal in France.

In vitro fertilisation with gamete donation

 

French legislation provides that medically assisted procreation must always be done with gametes from at least one of the spouses. In the case where one of the spouses cannot furnish a gamete (no sperm production, problems of ovulation, etc.) the law allows recourse to a donor outside the couple for either sperm or oocytes.

In vitro fertilisation with ICSI

 

Intra Cytoplasmic Sperm Injection or micro-injection directly introduces sperm selected by the operator into the oocyte. This technique was first used overcome the father’s infertility. It may transmit to the child the defects that caused the father’s infertility. Because the success rate of ICSI is higher than classic in vitro fertilisation, ICSI is used in more than 63% of in vitro fertilisations (2008) (1), even when the father does not suffer from infertility.(1) Bulletin épidémiologique hebdomadaire – BEH – June 2011.

Insulin-dependent diabetes

 

(medical) Type 1 diabetes, requiring insulin treatment.

Integrated first trimester screening

 

In order to reduce the rate of foetal loss, public authorities have since 2009 promoted a new, more sensitive, screening strategy for Down syndrome. This strategy should be able to reduce the size of the group of women considered at risk (above 38 years old). The French Ministry of Health now recommends a detection of two new serum markers, possible between eleven and fourteen weeks of amenorrhea, always together with an ultrasound scan in the first trimester. Integrated first trimester screening is called combined because it brings together in the first trimester of pregnancy the performance of an ultrasound scan and the detection of these new serum markers in the mother’s blood.

Integration

 

Accepting differences between persons, allowing them to be truly accepted in society. Numerous organisations exist to promote this, such as Departmental Offices for Disabled Persons (MDPH).

Interauricular communication (IAC)

 

(medical) A cardiac defect with abnormal communication between the left and right auricles of the heart producing an abnormal mixture (shunt) of oxygenated blood (left heart) and non-oxygenated blood (right heart), and anomalies in intracardiac pressures.

Interventricular communication (IVC)

 

(medical) Cardiac defect with abnormal communication between the ventricles.

Invasive method

 

See “Invasive technique”.

Invasive technique (invasive method)

 

The term for a method of prenatal diagnosis, which involves penetrating the mother’s body and the tissue around the foetus, sometimes causing serious damage which can even cause the loss of the child. The analytic techniques used are cytogenetics (to study the chromosomes or karyotype), molecular genetics (to study the genes) and all other biological disciplines (haematology, immunology, infectious diseases, foetal biochemistry) which may diagnose a pathology of the child to be born. One can cite amniocentesis, chorionic villus sampling (or trophoblast biopsy) and cordocentesis. These methods are offered any time there are sonographic or biological warning signs of a malformation syndrome, infections or defects. They are intended to diagnose the presence of infectious agents (virus, bacteria, parasite) or establish a foetal karyotype, i. E. study the anomalies in the number of chromosomes (Down syndrome, trisomies 13 or 18) or the presence of defective genes (muscular dystrophy, myopathies, etc.) directly from the foetal cells or the surroundings (amniotic fluid in which the child is immersed, trophoblast which will constitute the future placenta, blood from the umbilical cord).

 

 

J

 

Jérôme Lejeune Institute 

 

In France the Jérôme Lejeune Institute offers specialised consultations for persons with genetic intellectual disabilities, from birth to the end of life. Created in 1998 in Paris, the Institute is authorised as a referral centre by the French Ministry of Health. As such, consultations are completely covered by Social Security. The Jérôme Lejeune Institute offers specialised consultations for the overall follow-up of patients through a multidisciplinary team of specialised physicians: geneticists, neurologists, paediatricians, physicians specialised in pain, as well as psychologists, speech therapists, dieticians and nurses.(Consult the Institute website: http://www. Institutlejeune. Org).

 

K

 

 

Karyotype

 

Representation of all a person’s chromosomes, showing defects in the size or number of chromosomes, such as Down syndrome.

Keratoconus

 

(medical) Deformation of the cornea of the eye.

 

 

L

 

 

Law on equality of opportunities and the inclusion and citizenship of persons with disabilities (“Disabilities” law)

 

Promulgated on 11 February 2005, this law is one of the main laws on the rights of persons with disabilities since that of 1975 (law of orientation in favour of persons with disabilities, 30 June 1975). This definition of disability is found there: “A disability, for purposes of this law, means any limitation of activity or restriction in participating in societal life encountered in his environment by a person due to a substantial, lasting or permanent alteration of one or several physical, sensory, intellectual, cognitive or psychological functions, multiple disabilities or a disabling health problem”.(Consult the Legifrance website: http://www.legifrance.gouv.fr).

Leukaemia

 

Cancerous disease of the bone marrow with proliferation of abnormal cells often visible in a blood sample.

 

 

M

 

 

Makaton method

 

This method, created in England in the beginning of the 70s, is a language using a sign (gesture) and/or a symbol (pictogram). The use of gestures/signs promotes and stimulates language development. In the case of Down syndrome children, it can be useful for accessing language for so long as the child does not speak well.(Consult the Makaton website: http://www.makaton.fr).

MAP (Medically Assisted Procreation)

 

“Medically assisted procreation means the clinical or biological practices allowing in vitro conception, conservation of gametes, germ cells and embryos, transfer of embryos and artificial insemination.” (Article L.2141-1 of the French Public Health Code).

This is therefore the term for all techniques permitting procreation outside the natural process. There are two techniques: artificial insemination and in vitro fertilisation with embryo transfer (IVF).

MAS (Special home for disabled persons)

 

The specialised home accepts adults with severe intellectual, motor or somatic disabilities or multiple severe disabilities who do not have a minimum autonomy. Their condition also requires recourse to a third person for simple daily acts, medical monitoring and constant treatment. The MAS is a medico social establishment financed completely by health insurance. (Consult the Service-Public.fr website):http://vosdroits. Service-public.fr).

MDPH (Departmental Offices for Disabled Persons )

 

Created after the law on equality of opportunities and inclusion (11 February 2005), the Offices have a mission of receiving, informing and accompanying persons with disabilities and their families, as well as sensitising all citizens about disabilities. All requests for rights, services, orientation or inclusion (educational or professional) are made through this one place. They deliver disability cards and the European parking card, grant allowances for the education of children with disabilities (AEEH) and orient children towards specialised establishments if needed. For information on the MDPH, consult the MDPH website: http://www.mdph.fr).

Meiosis

 

Particular cell division in sperm and oocyte germ cells, resulting in cells with two times fewer chromosomes than other cells in the organism (N instead of 2N).

Metabolism

 

All the biochemical reactions in the organism allowing its functioning.

Methods of abortion

 

(Warning: this section may be offensive to some. Abortion is a violent reality and bringing it up, even discretely, may be felt as aggressive.

1) The morning after pill:(also called emergency contraception) Depending on the part of the feminine cycle in which it is taken, it prevents fertilisation and acts a contraceptive. It can also cause abortions when it prevents implantation of an embryo already conceived.

2) RU 486 Pill: Abortion pill which makes the uterine lining unsuitable for the survival of an embryo already implanted. It causes an abortion.

3) Intra-uterine device: It is a device placed in the uterine cavity to prevent pregnancy. It has a contraceptive effect to the extent it creates a chemical obstacle to sperm and may (but not always) prevent it from reaching the oocyte. It also has an abortive effect when a sperm has nevertheless reached the oocyte and fertilises it: it then prevents the embryo from implanting itself in the uterus and condemns it to die (it alters the uterine cavity so that the embryo can no longer implant itself).

4) Abortion by aspiration: dismemberment of the foetus by aspiration. This method is usually used for voluntary terminations of pregnancy.

5) Abortion by curettage: destruction by curettage of the embryo and recovery of the waste in the uterus.

6) Partial birth abortion: technique which allows the recovery of nerve cells from a still living foetus, bringing about its death.

7) Abortion by injection: injection of potassium chloride in the heart of the foetus. This method brings about the death of the foetus and the premature birth of the dead child. There can also be an injection of hypertonic solution in the amniotic fluid which kills the child in several hours. Twenty fours later the mother gives birth to a still-born child. This type of abortion is used for medical terminations of pregnancy until 9 months.

Mitosis

 

Cell divisions specific to somatic cells, i.e. all our cells except reproductive cells.

Molecular biology

 

Biochemical study of the organisation and functioning of the genome (DNA, RNA, genes, epigenetics)

Mongolism

 

(medical) Former term for Down syndrome (trisomy 21).

Monosomy

 

Chromosomal defect in the number of autosomal cells: instead of having a pair of a certain chromosome, the cell has only one. No complete monosomy, other than the sex chromosomes (loss of a Y), is compatible with life.

Morula

 

(“Small berry” in Latin) The name given to an embryo at the stage of 4 days after fertilisation. It has 10 to 30 cells.

Mosaic Down syndrome

 

Mozaics result in the majority of cases from the loss a 21st chromosome in an embryo with Down syndrome (trisomy 21). The error may also result during the first divisions of the fertilised egg. In the child there are cells with 46 chromosomes and a varying percentage of Down syndrome cells. These are mosaic Down syndrome, concerning about 2% of Down syndrome children. The medical consequences are impossible to predict because it depends on the relative distribution of the two types of cells and above all their distribution in each organ. The mosaic Down syndrome child may have a development identical to that of a homogenous Down syndrome if the Down syndrome cells are in the majority in the brain (central nervous system).On the other hand, its development will be closer to normal if the cells with 46 chromosomes are in the majority.

MRI (Magnetic resonance imaging)

 

System of digitised imaging based on magnetic resonance of the nuclei of atoms and allowing imaging of internal structures of the organism without harmful X-rays, as in the case of X-rays or scanners.

MTP (Medical termination of pregnancy)

 

Voluntary termination of pregnancy for medical reasons. The law has replaced the word “abortion” by “termination of pregnancy”. This expression hides the reality which is the death of the person concerned, the child. In the Veil law (1975) MTP is distinguished from VTP. MTP is authorised by the Veil Law until the end of the pregnancy (9 months) if the mother’s life is in danger or the foetus has a high probability of having a serious and incurable disease.

Multipotent stem cells

 

These can create many different types of cells, but not all types. They are adult, umbilical, amniotic, placental and foetal stem cells. Adult stem cells (child or adult) are extracted from the body: skin, muscle, blood, bone marrow, fat, etc. Umbilical stem cells are extracted from the blood of the umbilical cord. Amniotic and placental stem cells come from the amniotic fluid and placenta. Foetal stem cells are extracted from aborted foetuses.

Myopia

 

(medical) An eye “too long” which allows good close vision but poor distant vision.

 

 

N

 

 

Naprotechnology

 

Technique intended to help couples who believe they are sterile to procreate. It calls on all disciplines concerning procreation: observing one’s fertility, medical treatments, surgery. It has a success rate higher than medically assisted procreation and thus is an ethical alternative to it. It does not destroy embryos as does medically assisted procreation.

Narrowing of the lumbar vertebral canal

 

(medical) Narrowing of the bony canal of the vertebral column through which the spinal cord passes.

Neuropsychological tests

 

Tests to evaluate the development of a person to assist in making certain diagnoses (for example, Alzheimer’s disease) or to evaluate the best possible orientation for a child.

Non-invasive method

 

See “Non-invasive technique”.

Non-invasive technique (or non-invasive method)

 

Term given to a prenatal diagnosis which has no risk for the mother, the child in utero or the normal progression of the pregnancy. One can cite sonograms (obstetrical sonogram) but also maternal blood sampling to measure the amount of serum markers whose rates vary when the child has, for example, spina bidifa or a trisomy (21, 18 or 13). In the case of blood sampling, it is more a prenatal screening than a prenatal diagnosis. The study of cells or foetal DNA present in the mother’s plasma, which is being developed, will allow this technique to become an integral part of prenatal diagnosis.

Nuchal translucency

 

This is an oedema usually present in the posterior part of the foetal neck during the first three months of pregnancy (dark area on the ultrasound scan, situated between the skin of the neck and the vertebral column). Measuring to a tenth of a millimetre evaluates the difference between the observed nuchal translucency and what is statistically expected. In case of a significant increase, which can give rise to a suspicion of a defect in the child, an invasive diagnostic examination is offered to the pregnant woman to confirm the ultrasound scan.

Nystagmus

 

(medical) Abnormal pendular movements of the eyes.

 

O

 

 

Oesophageal atresia

 

(medical) Interruption of the oesophagus (a tracheoesophageal fistula may be a complication). It is treated surgically.

Organ donation (or organ removal)

 

At the time of death of a loved one in the hospital, the medical team may request the family’s consent to remove organs from a dead donor for transplanting in a patient. These organ transplants are rapidly increasing, but they pose a certain number of ethical questions. There are also organ removals from living donors, which encounter other ethical difficulties. Organ transplants provide important medical progress. We are speaking here of so-called entire organs – basically the kidney, heart and liver – and not blood transfusions or tissue or cell transplants. It is replacing a defective organ with a part of a healthy human body. The goal is to improve the patient’s conditions of life and often to save him from death. Thus kidney transplants, having become commonplace, allow patients with serious kidney disease to live many additional years.

Organ removal

 

See “Organ donation”

Organ transplant

 

See “Organ donation”

 

 

P

 

Palliative care

 

This terms means treatment which is not intended to cure, but to help the patient at the end of life. In addition to elementary care, it includes the treatments necessary to alleviate suffering and reduce anxiety. The medical team does all it can to help the ill person maintain his capacity to communicate and be autonomous. It provides a psychological accompaniment and offers to be present and listen to discern the expectations of the patient and his family.

Parental plan

 

This expression was created during abortion debates and refers to the willingness of parents to be or not to be the parents of the children they have conceived. It is a concept according to which a child is a human being only if its parents want it to be born. But, what makes it a human is not the plans one may have for it but rather the fact that it is a human being. Even if the parents no longer have a “parental plan” for their child, it is, whether an embryo or newborn, still a human. The embryo with no parental plan would become like an object with which one can do as one pleases and whose fate will be in our hands: we can destroy it, which would be the murder of a small human, or we could use it for a scientific experiment or research, which would mean that humans are laboratory materials.

Partial Down syndrome

 

In very rare cases, only a part of the 21st chromosome is duplicated, leading to partial Down syndrome (trisomy 21). The medical consequences depend on the region with three copies, because regions with different genes result in different effects. Down syndrome concerning the proximal part (near the narrowed part of the chromosome, called the centromere) has few pathological consequences whereas Down syndrome concerning the terminal region (far from the centromere) causes most of the signs of Down syndrome in the child. In analysing these rare cases, it is possible to identify the role of different segments and the implication of different genes in the signs of Down syndrome.

Patent ductus arteriosus (PDA)

 

(medical) Defect linked to the abnormal persistence, after birth, of a communication between the pulmonary artery and the aortic artery (existing in the foetus). This problem often disappears spontaneously without treatment.

Patentability

 

The European Court of Justice has forbidden the patenting of a process that uses human embryos leading to their destruction (18th October 2011). The European Court judges rejected any possibility of patentability where the “respect for human dignity could thereby be affected.” Thus, “a process which involves removal of a stem cell from a human embryo at the blastocyst stage, entailing the destruction of that embryo, cannot be patented”. The European Court of Justice insists that a human embryo be seen in a larger context: “A human ovum must, as soon as fertilised, be regarded as a ‘human embryo’ if that fertilisation is such as to commence the process of development of a human being”.

Perruche decision

 

A decision of the French Supreme Court of 17thNovember 2000 which declared that “to the extent that the fault of the physician and laboratory in performing the agreements made with Ms Perruch prevented her from exercising her choice to interrupt her pregnancy to prevent the birth of a handicapped child, she may require compensation for the harm resulting from the handicap and caused by the fault found. “This was the first time French jurisprudence recognised the right of a child born with a handicap to be compensated for the damages resulting from being born. On 4thMarch 2002, a law was passed to counter this decision, providing that “no one may claim damages simply by virtue of being born”. (Consult the Legifrance website: http://www.legifrance.gouv.fr ).

PET scan

 

Positron emission tomography using a scanner; examination of very specialised imagery to study and localise biochemical reactions of the brain in real time, for example when thought is stimulated.

Phenotype

 

The phenotype is the state of an observable property (anatomical, morphological, molecular, physiological or ethological property) in a living organism. The phenotype is all observable properties of an individual. The concept of the phenotype is defined in contrast to the genotype.

PID (Pre-implantation diagnosis)

 

This is a technique to select embryos used for fertile couples concerned about a hereditary genetic disease. It is authorised since the bioethics law of 1994. The goal is the birth of a baby not suffering from that disease or having a specific genetic characteristic. Embryos which have this disease or which do not have the specific genetic characteristic are destroyed, which is an abortion.

PID requires in vitro fertilisation, by which there are 6 to 10 embryos created and left to develop until the stage of 8 cells. One or two cells are collected from each. Then they are analysed to determine if the embryo has the disease. One or two embryos not suffering from the defect are transferred in utero (referred to as implantation). If the other embryos are healthy, they are frozen. The others which are not are destroyed or used for research.

There is also a double PID (saviour sibling), which is a legal possibility for parents of a child with a particularly serious and incurable hereditary disease to use PID to select a child both free of the disease (first selection) and compatible (second selection) with its older brother or sister, so that a transplant of blood from the cord or bone marrow can be done. This technique requires a double screening of embryos. It is a technique doubly eugenic; there are other ways to treat the pathologies for which it is used.

PID does not treat or cure anyone – it allows a child to be born free of a disease it never had. PID allows screening embryos in order to reimplant the healthy ones and eliminate the sick ones; it favours the elimination of categories of subjects (embryos) according to their genetic code. It is therefore eugenics.

Pill

 

See “Methods of abortion” (Warning: this section may be offensive to some. Abortion is a violent reality and bringing it up, even discretely, may be felt as aggressive), “Contraceptive Pill” and “Contraception”.

Placenta

 

The foetal structure linking the baby to the maternal uterus. It allows it to breathe, eat and eliminate waste. The foetus is linked to the placenta by the umbilical cord.

Pluripotent stem cells

 

They can create all types of cells of the organism (except the placenta), but not a new organism. They are embryonic stem cells (other than zygotes) and iPS cells (induced pluripotent stem cells).Embryonic stem cells are extracted from so-called “supernumerary” embryos, conceived in the context of medically assisted procreation and then abandoned for research. These frozen embryos are revived for several days, until the late Morula stage (5-6 days), before removing the cells from their internal mass, which brings about their destruction. IPS cells are cells from the adult body, the skin for example, which are deprogrammed to become undifferentiated. They can then be transformed into many types of cells, which is why they are called: induced pluripotent stem cells, or iPS cells. This discovery resulted in obtaining pluripotent stem cells without having to destroy human embryos.

PND (Prenatal diagnosis)

 

Term for medical practices, including obstetrical and foetal ultrasound scan, with a goal of early detection in the human embryo or foetus of morphological defects and genetic, chromosomal or infectious pathologies in the mother’s uterus. Since the laws of 1994 and 2004 did not require physicians to systematically inform all pregnant women about PND, the law of 2011 now requires them to do so. This generally amounts to encouraging women to have an abortion if PND reveals any malformation. There are non-invasive methods which present no risk to the mother, the child in utero or the proper functioning of the pregnancy; and invasive methods which involve penetrating the mother’s body and tissues attached to the foetus, sometimes causing serious damage or even loss of the child.

PND techniques themselves are neither good nor bad – it all depends on their use. It is the use that is either good or bad. If PND is used to screen for diseases that can be treated or if helps parents to organise receiving a sick child, the use is good. But it is harmful if the PDN is used to select babies before birth.

In current practice, the time for screening and Down syndrome PND are independent, with the screening being only a statistical calculation that must be confirmed or contradicted by or chorionic villus sampling (trophoblast biopsy) or amniocentesis if the calculated risk is above 1 out of 250. The value of a Down syndrome prenatal diagnosis (with a sample of the mother’s blood) is to have a screening and PND at the same time, avoiding repeated invasive procedures. However, with this simplified diagnosis will come the risk of making Down syndrome detection commonplace, ending in the near-eradication of Down syndrome children.

Post abortion syndrome

 

A depressed state and various disorders are observed in many women following an abortion:guilt, loss of self-esteem, depression, suicidal thoughts, anxiety, insomnia, anger, sexual problems, nightmares in which her baby hates her and is calling her, etc. The link with the abortion is not always realised. These consequences, which may appear right away or later, are today well known and identified under the name of post abortion syndrome. These symptoms are amplified each time the mother meets a pregnant woman, sees a baby in a stroller, passes a clinic, thinks of her child’s birthday, etc. The post abortion syndrome is not limited to the mother. It may also extend to other relatives: the father, brothers and sisters, etc.

Posthumanism (or transhumanism)

 

Appearing in the 90s in the United States, this ideology maintains that sciences and its techniques can improve mankind’s physical and mental properties and claims a new species will appear. Pre-implantation diagnosis plays into the hands of posthumanism by proposing that non-sterile parents use in vitro fertilization to select their child according to genetic criteria.

Pregnancy

 

(Larousse) “The condition of the pregnant woman, from fertilisation to birth”. It begins at fertilisation even if the woman is not aware of it until after implantation. The term of the pregnancy is calculated in two ways: in months of the embryo’s development as from the day of fertilisation; in weeks of amenorrhea, as from the first day of the last period. When the woman’s cycle is 28 days, ovulation occurs on the 14th day of the cycle. When a woman deduces from her late period that she is pregnant, the baby is already 14 days old.

1) On the first day it is a zygote. At 21 days its heart begins beating and one can hear it and see it on n ultrasound scan. At 5 weeks the embryo measures between 3 and 5 millimetres.

2) During the 2nd month, the members take shape. The fingers, mouth, nose, ears, eyes and even the eyelids can be distinguished.

3) At 7 weeks after fertilisation, the foetus measures 17 to 22 millimetres.

4) From two months the embryo is always referred to as a foetus. It measures about 35 millimetres.

5) During the 3rd month, when it measures about 6 centimetres and weighs about 20 grams, the baby moves its hands and feet. Its sex can be known.

6) During the 4th month, it sucks its thumb and swallows amniotic fluid. Its hands are completely formed. It measures 20 centimetres and weighs about 250 grams.

7) During the 5th month its movements are felt by the mother. It measures 30 centimetres and weighs about 650 grams.

8) During the 6th month, when it measures 37 centimetres and weighs about 1,000 grams, it moves a lot and begins to react to exterior sounds.

9) During the 8th month it takes the position that it will, in principle, maintain until birth.

Procreation

 

The act of giving life to a child. From the meeting of the gametes of a man and a woman a new life is born, a new human being. One refers to the mother giving birth and to the father begetting.

Psoriasis

 

(medical) Disease manifested mainly by skin problems with presence of dry, white flakes on the elbows, knees and chafed areas.

Public Health Code

 

A code with more than 10,000 articles materially setting out public health law. It can be consulted on the Legifrance website (http://www.legifrance.gouv.fr/), as well as in a paper version in the Official Journal available from different publishers. It contains the Code of Medical Ethics. It has six parts, intended to cover all persons and all medical treatments:

General protection of health (protection of persons in matters of health, gifts and use of elements and substances from the human body, etc.)

Health of the family, mother and child (protection and promotion of maternal and infant health, voluntary termination of pregnancy, etc.)

3) Fight against disease and addiction (fight against contagious diseases, mental illness, alcoholism, drug addiction, etc.)

4) Health professions (medical, pharmaceutical, caregiver professions, etc.)

5) Health products (pharmaceutical products, medical devices, etc.)

6) Health establishments and services (health establishments, medical biology, emergency medical help, etc.)

The CSP requires that the consent of the pregnant woman be obtained before any prescription or performance of a pre-natal diagnostic examination (Article L.2131-1-V). It also provides: “No medical act…may be performed without the free and informed consent of the person and such consent may be withdrawn at any time” (Article L.1111-4).

 

 

R

 

 

RNA (ribonucleic acid)

 

Molecule made up of a chain of “bases”, reproducing a mirror copy of a DNA (Deoxyribonucleic acid) segment.

 

 

S

 

 

Sampling of maternal blood

 

This prenatal, non-invasive diagnostic technique is still being developed and may revolutionise prenatal diagnosis through its innovation and precision. Two main approaches are being studied: analysis of foetal cells and analysis of foetal DNA, each extracted from maternal blood. From the eighth week of pregnancy, foetal cells circulate in the mother’s blood. There is a technique to isolate tumour cells in the blood called ISET (Isolation of Epithelial Tumour Cells) which has been successfully applied to diagnosis of antenatal defects such as cystic fibrosis.

1) Analysis of foetal cells: There is a filtering technique that allows increasing the percentage of foetal cells and a cellular DNA sequencing after microdissection. When these two techniques are combined, the ISET test has a sensitivity and specificity close to 100%. This new method will be applicable to any genetic disease or chromosomal defect.

2) Analysis of foetal DNA in the maternal plasma: Thanks to high volume sequencers, geneticists can analyse short foetal DNA fragments, taken from a simple sample of maternal blood. This technique has shown its efficiency in the early prenatal detection of Down syndrome (trisomy 21), 13 trisomy and 18 trisomy between the six and seventh week of amenorrhea.

In current practice, the times for screening and prenatal diagnosis of Down syndrome are independent, with the screening being only a statistical calculation that must be confirmed or contradicted by chorionic villus sampling (trophoblast biopsy) or amniocentesis if the calculated risk is above 1 out of 250. The value of a Down syndrome prenatal diagnosis (with a sample of the mother’s blood) is to have a screening and prenatal diagnosis at the same time, avoiding repeated invasive procedures.

Saviour sibling

 

This is a baby selected by pre-implantation diagnosis in the context of in vitro fertilisation, to treat its big brother or big sister suffering from a serious genetic disease. For the operation to be successful the embryo must meet two criteria: it must not have the same disease and it must be compatible for a transplant with the diseased brother or sister. The pre-implantation genetic diagnosis (PGD) is a technique with a double selection: referred to as a “double factor PGD”. About 100 embryos must be conceived for the birth of 1 saviour sibling, which means the destruction of the other 99.The first saviour sibling, Adam, was born in the United States in 2000. Since the bioethics law of 2004, this practice is authorised in France. On 26thJanuary 2011 the first French saviour sibling was born. The double factor PGD or saviour sibling is a technique doubly eugenic; there are other ways to treat the pathologies for which it is used.

Scanner

 

(medical) Computerised radiological examination (using X rays) showing cross-sections of organs, especially the brain. It is very useful.

Screening

 

Also called prenatal screening: an analysis which estimates the risk for a pregnant woman to have a Down syndrome foetus. A diagnosis is then offered to women at risk. It consists of an analysis of the chromosomes of the foetus from an invasive sample: amniocentesis or chorionic villus sampling (trophoblast biopsy). Screening is based on the age of the woman, quantities of biochemical markers (“serum markers”, HT21 test) and the measurement of the thickness of the foetus’ neck through an ultrasound scan. Since a decision of 23 June 2009, these measures have been combined and are done in the first semester (referred to as first semester combined screening). These tests are offered to all pregnant women and can be done in 48 hours. Since 2011, physicians are required to inform patients of Down syndrome screening. Parents are not required to accept it: they have the right to refuse taking of blood for measuring the serum markers, as well as amniocentesis and chorionic villus sampling (trophoblast biopsy) that may be offered to them.

A very sensitive screening test, based on the analysis of foetal DNA circulating in the mother’s blood, should be available soon. In current practice, the times for screening and prenatal diagnosis for Down syndrome are independent, the screening being only a statistical calculation that must be confirmed or contradicted by chorionic villus sampling (trophoblast biopsy) or amniocentesis if the calculated risk is above 1 out of 250.

The value of a non-invasive Down syndrome prenatal diagnosis (with a sample of the mother’s blood) is to have a screening and prenatal diagnosis at the same time, avoiding repeated invasive procedures. With this simplified diagnosis will come however the risk of making Down syndrome detection commonplace, ending in the near-eradication of Down syndrome children.

SEES (Special education and teaching section)

 

Centre for special education and treatment (both practically speaking and in teaching), it receives children and adolescents from 3 to 14 presenting intellectual disabilities linked to neuropsychiatric problems (personality, communication, psychomotor or sensory problems). It is the new term for medico-educational institutes (IMP).(Consult the Legifrance website: http://www.legifrance.gouv.fr).

Serology

 

Blood examination seeking the existence of antibodies which may mean the possibility of a disease.

Serum marker

 

(Larousse) “Presence in the serum of hormone, enzyme or protein substances whose presence or rate lead to suspicion of an alteration in the function of an organ or suggest a risk situation.”

SESSAD (Service for Special Education and Home Care)

 

Multidisciplinary medical, paramedical and educational team: physician, physical therapist, speech therapist, psycho-motor skills therapist, etc. This team accompanies the parents of children suffering from diseases like Down syndrome, for care and follow-up from 0 to 20 years, in the child’s environment, especially at school. Before 6 years, children must be taken to a CAMSP (Centre for Early Medico-Social Action).(Consult the Service-Public.fr website):http://vosdroits.service-public.fr).

SIPFP (Section for Professional Initiation and Pre-Training)

 

This structure replaces the medico-professional institutions (IMPro). It is a structure, often integrated in a medico-educational institution (IME) intended to receive persons with intellectual disabilities, aged from 14 – 20. Its goal is professional and pre-professional training. They often have a boarding school.(Consult the Legifrance website: http://www.legifrance.gouv.fr).

Sleep apnoea

 

Pauses in breathing during sleep that may lead to poor oxygenation of the organism.

Smith-Magenis Syndrome

 

This chromosomal disease is characterised by physical symptoms and behavioural problems and development of an intellectual disability. It is caused by the partial deletion of the 17th chromosome.

If some patients do not present behavioural problems, all are nevertheless affected to varying degrees by self-aggressiveness and sleep disorders. One area of successful research is in the treatment of sleep disorders in the patients. This syndrome usually results in an inversion of the biological clock of persons who remain awake at night and sleep in the day. The treatment developed and administered to patients today allows them to return to the normal sleep cycle.

Spina bifida (myeloméningocele)

 

(medical) Malformation of the vertebral column at the level of the neural tube. An increase of alpha feto-protein, normally present in trace levels in the amniotic fluid, is a sign of this malformation of the nervous system.

Stem cells

 

Stem cells or master cells are useful for researchers. These are immature non-differentiated cells capable of creating many types of cells from different tissues of the adult organism. There are three types: totipotent, pluripotent and multipotent. They are withdrawn and cultivated for research and treatment of several diseases. There are adult, umbilical, placental, foetal, iPS (induced pluripotent stem cells) and embryonic stem cells. These cells provide efficient therapeutic results for certain illnesses. However, the use of embryonic stem cells is immoral because it involves the destruction of embryos.

Embryonic stem cells come from embryos aged 3 to 7 days; their withdrawal always results in the death of the embryo. At a later stage of pregnancy, one can obtain foetal stem cells. The stem cells found in a new-born come from the blood of the umbilical cord as well as the amniotic and placental stem cells. In a child or adult there are adult stem cells.

Embryonic and iPS stem cells are comparable, with the latter being better both scientifically and ethically. They have similar capacities to proliferate and differentiate, and are useful for screening of molecules and creation of disease models. If they are injected into a patient, they can cause cancerous tumours: they are therefore not clinically used at present. Nevertheless, iPS cells are not rejected by the patient’s organism if they come from him, whereas embryonic stem cells are subject to an immune rejection because they do not come from him but from an embryo. IPS cells produce pathological models directly from the patient’s cells, whereas those produced from embryonic stem cells are limited to genetic diseases. Finally, obtaining the embryonic cells results in the destruction of human embryos, whereas there is no ethical difficulty in obtaining iPS cells, a simple skin sample being enough.

To study embryonic development, researchers can use animal embryos which do not pose any ethical problem. The major discovery of iPS cells was done using mice embryos. The destruction of human embryos is not necessary to progress in science and increase knowledge.

Supernumerary embryo

 

See “Embryonic reduction”

Surrogacy

 

See “In vitro fertilisation with a ‘surrogate mother’ – or surrogacy”

Surrogate mother

 

See “In vitro fertilisation with a ‘surrogate mother’ – or surrogacy”

Syndactyly

 

(medical) Fusion of two fingers or toes.

 

 

T

 

 

Tetralogy of Fallot

 

Serious cardiac malformation with four defects and requiring an operation on the heart.

Thyroiditis

 

Inflammation of the thyroid gland, usually of auto-immune origin.

Tom Pouce

 

A history based on the story that Professor Jérôme Lejeune tells to describe the human embryo:

“At the real age of one month, the human being measures four and a half millimetres. His tiny heart is already beating for a week, his arms, legs, head and brain are already begun. At two months, he measures some three centimetres from the head to the buttocks. He would fit folded up in a nutshell. Within a closed fist he would be invisible and this closed fist would crush him accidentally without even being aware of him. But open your hand and you will see he is almost finished – hands, feet, head, organs, brain – all is in place and only needs to grow. Look more closely and you can already read his palm and predict a great adventure. Look even more closely, with an ordinary microscope, and you can make out his fingerprints. All is there that is needed to fill out his national identity card.

The incredible Tom Thumb, the man smaller than my thumb, really exists; not the Tom Thumb of the legend, but the one that each of us has been.

But the brain, they say, will not be finished until five or six months. But no, it will be entirely in place only at birth; the countless connections will be established only at six or seven years of age and its chemical and electrical machinery will not be completely developed until fourteen or fifteen!

Progressively he reaches the end of the embryonic period two months after fertilisation.At that point the little fellow is as big as my thumb. And because of that all mothers telling fairy stories to their children will tell them the story of Tom Thumb, because it is a true story. Each of us has been a Tom Thumb in his mother’s womb and women have always known that if there was a sort of underground region, a sort of vaulted shelter with a reddish glow and a rhythmic sound in which all little humans lead a strange and marvellous life. That is the story of Tom Thumb.”

Totipotent stem cell

 

It can create all types of cells of the organism (including the placenta).It is a zygote, an embryo with a single cell.

Transhumanism (or posthumanism)

 

Appearing in the 90s in the United States, this ideology maintains that sciences and its techniques can improve mankind’s physical and mental properties and claims a new species will appear. Pre-implantation diagnosis plays into the hands of transhumanism by proposing that non-sterile parents use in vitro fertilisation to select their child according to genetic criteria.

Trisomy

 

This is the term for the fact that an entire chromosome (complete trisomy) or a fragment of chromosome (partial trisomy) is present in three copies instead of two. As there are 22 pairs of autosomal chromosomes (not determining sex) and a pair of sexual chromosomes, it is theoretically possible to think that all chromosomes may be subject to partial or complete trisomy. In reality, there is no complete trisomy for large autosomal chromosomes, especially because they have too many genes for them to be compatible with life if they have three copies. For example, trisomy 16 is the most frequent of defects observed in the analysis of spontaneous miscarriages, but no embryo with trisomy 16 can develop beyond several weeks of pregnancy.

The 13th and 18th chromosomes which are larger than the 21st chromosome, may be subject to trisomy but children with it have severe medical problems which usually lead to death shortly after birth. Manifestations of trisomy 13 and 18 are very different from Down syndrome (trisomy 21). It depends above all on the genes which are present in the chromosome in three copies and the way the organism tolerates the excess.

Trophoblast biopsy

 

Also called chorionic villus sampling. By removing a part of the placenta, it allows a karyotype to be analysed sooner than with amniocentesis, during the first trimester. The risk of miscarriage is from 0.5% to 1%.The risk of diagnostic error is slightly higher than with amniocentesis which observes foetal cells directly.

 

 

U

 

Ultrasound scan (obstetric ultrasound scan)

 

This is the main examination of prenatal diagnosis. It shows the baby in synthetic images from ultrasounds. This examination if performed at least three times during pregnancy, at 12, 21 and the 33 weeks of amenorrhea. The sonogram allows an evaluation of the development of the foetus and to look for the presence of defects such as malformations of the members, cardiac or renal malformations or various tumours. This examination is used to measure, among other things, the thickness of the neck, a warning sign of Down syndrome (trisomy 21).

UPI (Educational Integration Unit)

 

Replaced in autumn 2010 by the ULIS (Local Unit for Educational Inclusion). These units offered possibilities for flexible and diversified learning in ordinary schools intended for disabled students. They were intended for students with disabilities whose difficulties can be handled in a satisfactory manner in an ordinary class.

 

 

V

 

 

Veil law

 

Promulgated on 17 January 1975, the law covering the voluntary termination of pregnancy decriminalised abortion in France. Nevertheless it affirms the principle of respecting human life from its beginning. As it is a fundamental principle, not only is there no “right” to abortion, the law still allows conscientious objection by healthcare professionals. (Consult the Legifrance website: http://www.legifrance.gouv.fr).

Vertebral instability

 

Insufficient link between two vertebras, making them unstable with respect to each other.

Villous atrophy

 

(medical) An anomaly causing a lessening of the surface area for intestinal cell secretion or absorption.

Vitiligo

 

Problems of pigmentation in the skin which presents faded areas and hair with white tufts.

VTP (Voluntary termination of pregnancy)

 

The law has replaced the word “abortion” by “termination of pregnancy”. This expression hides the reality which is the death of the person concerned, the child. In the Veil law (1975) MTP is distinguished from VTP. VTP is authorised by the law until the 12th week of the foetus (14th week of amenorrhea), in case of the mother’s distress.

 

 

W

 

 

West syndrome

 

Very special form of epilepsy to which Down syndrome (trisomy 21) children are very susceptible during their first year of life. Crises present as flexion (flexion spasms) or extension (extension spasms) movements of the trunk and can include digestive pain. These abnormal movements may be more discrete, limited to small flexion movements of the fingers or head.

The loss of eye contact with the child should alert those around and lead them to seek advice from a neurologist as soon as possible because the evolution of the condition will depend on early treatment.

Williams-Beuren Syndrome

 

This syndrome is caused by the loss of a small part of the 7th chromosome (microdeletion). Several genes are absent, including the one coding for elastin which makes the walls of blood vessels. Most often it results from a non-hereditary genetic accident. Its frequency is on the order of 1/20,000 births.

This syndrome includes particular facial expressions, cardiovascular problems (especially supravalvular aortic stenosis), an intellectual disability of varying severity, hypercalcemia, a characteristic cognitive profile (good level of language and auditory memory; major visuo-spatial difficulties; happy and sociable personality) and high level of anxiety.

There is no cure other than treating the medical complications. Educational and therapeutic care improve the prognosis.

Wrongful birth

 

A physician was required to indemnify the parents for the in utero diagnostic error concerning their son, Nicolas Perruche, who had a severe disability. The Perruche decision (17 November 2000, consulter the Legifrance website:http://www.legifrance.gouv.fr) by the French Supreme Court once again ruled against the physician by requiring him to indemnify Nicolas Perruche for his “damages” resulting from being alive. Indeed, he was not aborted because the physician did not detect his disability before birth. On 4 March 2002, a law was passed to correct this decision, providing that “no one may claim damages simply by virtue of being born”.

 

 

Z

 

 

Zygote

 

This is the first stage of the embryo in which the 23 chromosomes of the mother and the 23 chromosomes of the father come together. Its size is 0.15 mm. It receives information and life from the living sperm of the father and the living oocyte of the mother.

 

Dear Future Mom

Voir d’autres vidéos

Our newsletter

Institut medical office