Journel H, Roussey M, Le Marec B
Service de Pédiatrie-Génétique Médicale, C.H.U. de Pontchaillou, Rennes.
J Genet Hum. 1987 Dec;35(5):399-408.
Prenatal diagnosis of cystic fibrosis is today possible by chemical study of amniotic fluid during the 18th week of pregnancy. We have, among 90 families seen for genetic counseling between 1972 and 1985, estimated the risk of recurrence; it was of 0.25 in 55 cases; between 0.05 and 0.16 in 30 cases, greater than 0.01 in 16 cases. Before suggesting a prenatal diagnosis, it is necessary to take as basis the risk of abortion and the reliability of the method. The first risk is well known, less 0.005, in these young women; reliability can be estimated: almost 0.01 of false wrong negative, and this number is probably overvalued if all technical conditions are perfect. In front of these risks, it seems possible to propose a prenatal diagnosis from a risk of 0.01, the families being informed of all risks. We think so to hearten some families and to make possible for them to live quietly these pregnancies, probably non undertaken without our help.
如今，在怀孕第18周时通过对羊水进行化学研究可以对囊性纤维化进行产前诊断。在1972年至1985年间接受遗传咨询的90个家庭中，我们估计了复发风险；55例中的复发风险为0.25；30例中的复发风险在0.05至0.16之间；16例中的复发风险大于0.01。在建议进行产前诊断之前，有必要将流产风险和该方法的可靠性作为依据。第一种风险众所周知，在这些年轻女性中低于0.005；可靠性可以估计：假阴性错误率几乎为0.01，如果所有技术条件都完美，这个数字可能被高估了。面对这些风险，从0.01的风险开始似乎可以提出产前诊断，同时要让这些家庭了解所有风险。我们认为这样做可以鼓励一些家庭，并使他们能够安心度过这些孕期，如果没有我们的帮助，这些孕期可能不会进行。
