Aymé S, Morichon N, Goujard J, Nisand I
INSERM SC11, Villejuif, Department of Cytogenetics, France.
Eur J Hum Genet. 1997;5 Suppl 1:26-31.
Prenatal diagnosis (PND) is very developed in France, especially in the area of ultrasound (US) screening. The activity is regulated by law, and laboratories have to be authorized to perform any type of prenatal biological test if the purpose is to diagnose fetal defects. There are 70 cytogenetics laboratories and 50 biochemistry laboratories performing serum marker screening, about half of them being private. PND of chromosomal anomalies is offered to women over 37 years of age, to women who already had a child with a chromosomal anomaly, in case of abnormal US findings, if one of the parents has a balanced chromosomal anomaly and if the risk of chromosomal anomaly is higher than 1:250 according to the serum markers. Half of the trisomy 21 cases are now detected prenatally and pregnancies terminated. Fetal cell sampling is performed by amniocentesis in 70% of cases, by chorionic villus sampling in 7% of cases and by fetal blood sampling in 23% of cases. There are no professional guidelines and no quality assessment networks for any of the techniques in use. PND is regulated by two major laws: the Law on Abortion (1975) and the Law on Bioethics (1994).
产前诊断(PND)在法国非常发达,尤其是在超声(US)筛查领域。该活动受法律监管,如果目的是诊断胎儿缺陷,实验室必须获得授权才能进行任何类型的产前生物学检测。有70个细胞遗传学实验室和50个进行血清标志物筛查的生物化学实验室,其中约一半是私立的。对于37岁以上的女性、已育有染色体异常患儿的女性、超声检查结果异常的情况、父母一方有染色体平衡异常的情况以及根据血清标志物显示染色体异常风险高于1:250的情况,会提供染色体异常的产前诊断。现在,21三体综合征病例中有一半是在产前检测到并终止妊娠的。70%的病例通过羊膜穿刺术进行胎儿细胞采样,7%的病例通过绒毛取样,23%的病例通过胎儿采血。对于所使用的任何技术,都没有专业指南和质量评估网络。产前诊断受两部主要法律监管:《堕胎法》(1975年)和《生物伦理法》(1994年)。