title: [Prenatal diagnosis of genetic diseases in France].
abstract: Prenatal diagnosis has been introduced in medicine in the seventies with aminocenteses and amniotic cells cultures. It was applied to the diagnosis, during the second trimester of pregnancy for chromosomal abnormalities (mainly Down syndrome in women 38 years of age) and inborn errors of metabolism with very severe handicaps). Since 1970, obstetrical techniques have improved giving access to several fetal biological samples, knowledge in genetics has identified more diseases and biological analyses have become more accurate. During the same time legislation has been instituted: in France the law of 1994 July 29th established rules for prenatal diagnosis. Among theses rules are defined the objective of prenatal diagnosis, the requirement for medical genetic counselling and official authorizations for cytogenetic, infectious diagnosis, biological diagnosis of genetic diseases (biochemical, molecular genetic, hematology, immunology) and maternal plasma markers of chromosomal abnormalities (Down syndrome). Recently (1997 may 28th) have been established "pluridisciplinary prenatal diagnosis centers", including complementary, clinical and biological services to insure the safety of Prenatal Diagnosis. Preimplantation Diagnosis (PID) inherited diseases has become recently possible with the techniques of in vitro fertilization, blastomere biopsy of the early embryo and DNA analysis of the single blastomere. Only a very few centres worldwide offer PID. In France PID is not yet allowed but the National Ethical Committee examined the question and legislation is about to be published.
authors.affiliation: Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon.
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
mesh_terms: D000328:Adult; D005260:Female; D005602:France / Q000453:epidemiology; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data*