Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes.
The results of early prenatal diagnoses of congenital adrenal hyperplasia are reported. The determination of 17-hydroxyprogesterone values in amniotic fluid taken transabdominally at 11 weeks of gestation enabled prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency. There is a clear-cut difference between normal and pathological values at that time of pregnancy. This method of diagnosis can be combined with genotyping of the fetus by HLA-DNA probes on chorionic villus sampling or can be used alone. Prenatal diagnosis with a 21-OH probe is possible when a preliminary study has demonstrated that the index case is homozygous for the deletion.
Raux-Demay
M
M
Laboratoire Explorations fonctionnelles endocriniennes, Hôpital Trousseau, Paris, France.
Mornet
E
E
Boue
J
J
Couillin
P
P
Oury
J F
JF
Ravise
N
N
Deluchat
C
C
Boue
A
A
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis*; D015193:Chorionic Villi Sampling; D015342:DNA Probes; D015343:DNA Probes, HLA; D005260:Female; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis*; D011247:Pregnancy; D013250:Steroid Hydroxylases / Q000172:deficiency*
D015342:DNA Probes; D015343:DNA Probes, HLA; D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases