Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: Comparison with HLA typing in 17 pregnancies at risk for CAH

1981 ◽  
Vol 1 (3) ◽  
pp. 197-207 ◽  
Author(s):  
Maguelone G. Forest ◽  
Hervé Bétuel ◽  
Philippe Couillin ◽  
André Boué ◽  
Michel David ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Congenital Adrenal Hyperplasia ◽  
Hla Typing ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Steroid Analysis ◽  
21 Hydroxylase Deficiency

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

PEDIATRICS ◽  
1977 ◽  
Vol 59 (5) ◽  
pp. 768-770 ◽  
Author(s):  
Aubrey Milunsky ◽  
Dan Tulchinsky
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Congenital Adrenal Hyperplasia ◽  
Antenatal Diagnosis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

There is a paucity of data concerning the feasibility of the early antenatal diagnosis of congenital adrenal hyperplasia (CAH). Jeffcoate et al.1 reported elevated amniotic fluid 17-keto-steroid and pregnanetriol levels in a patient at term carrying a fetus with CAH. Nichols2 and Nichols and Gibson3 reported high amniotic fluid pregnanetriol levels in two other patients in term pregnancies. In contrast, Merkatz et al.4 found normal amniotic fluid 17-ketosteroid and pregna-netriol levels in two other patients carrying fetuses with CAH who had repeated amniocenteses at 26, 30, 35, 38, and 33 and 37 weeks gestation. New5 also noted that in his experience, 17-ketosteroid or pregnanetriol levels in amniotic fluid were not useful for the antenatal diagnosis of CAH.

PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPING

The Lancet ◽  
1979 ◽  
Vol 313 (8126) ◽  
pp. 1107-1108 ◽  
Author(s):  
M.S Pollack ◽  
L.S Levine ◽  
S Pang ◽  
R.P Owens ◽  
H.M Nitowsky ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Congenital Adrenal Hyperplasia ◽  
Hla Typing ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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