[Prenatal diagnosis of mucoviscidosis. Contribution of DNA analysis of trophoblast biopsies].
The gene for cystic fibrosis has been localised on the long arm of chromosome 7. Genetic engineering techniques now make it possible to inform educated families that it is possible to make an early antenatal diagnosis on chorionic villus sampling at the tenth week of pregnancy. We report our experience on ten antenatal diagnosis that were made. Furthermore, we were able to study 48 families with a live child who had the disease, and were able to change the probability of another child being born with the gene. This approach makes it possible for us to change the risk for a couple of giving birth to an affected child. It is also possible to extend the indications for trophoblast analysis to parallel cases where the risk is less than 1 in 4.
Ferec
C
C
Centre Départemental de Transfusion Sanguine, Brest.
Chabaud
J J
JJ
Parent
P
P
Boog
G
G
D015193:Chorionic Villi Sampling; D003550:Cystic Fibrosis / Q000175:diagnosis*; D004247:DNA / Q000032:analysis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors
D004247:DNA
Diagnostics anténatals de mucoviscidose. Apport de l'analyse de l'ADN sur biopsie de trophoblaste.