[Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques].
Prenatal diagnosis of cystic fibrosis established by study of RFLPs flanking the gene and, since 1989, by direct detection of the major mutation delta F508 is now widely used. However, there are still some indications of prenatal diagnosis by microvillar intestinal enzymes analysis. We propose a prenatal diagnosis strategy which combines both methods. This diagnosis strategy is applied to families with a 1/4 to 1/200 risk. Screening of delta F508 in the general population is discussed.
Jouk
P S
PS
Unité de concertation de diagnostic anténatal, CHRU de Grenoble, France.
Monnier
N
N
Bernard-Guelle
F
F
Lunardi
J
J
Joannard
A
A
Chambaz
E
E
Jalbert
P
P
D004796:Clinical Enzyme Tests; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
Diagnostic anténatal de la mucoviscidose: indication du dosage enzymatique et des techniques de biologie moléculaire.