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- W2068752825 abstract "Fetal HLA typing was performed in a 13 weeks pregnant woman for the prenatal diagnosis of 21 OH DAH. She was the mother of an 11 year old girl with late-onset 21 OH DAH (first clinical manifestations appeared at the age of 9 years). HLA typing of the father, mother and child were respectively A3B7/A9B17, A2B5/A2BW38 and A3B7/A2B5. The fetal HLA typing was done on amniotic fluid cells and found to be A3B7/A2B5 ie identical to the haplotype of the affected daughter. The parents wished that the pregnancy be terminated if there was any chance for the fetus to be affected. Termination of the pregnancy was done at 17 weeks of gestation despite the fact that amniotic fluid steroid concentrations suggested an unaffected female fetus (ng/dl : 17 hydroxyprogesterone : 156, testosterone : 4.5, Δ4 androstenedione : 78). The autopsy showed a normal female fetus. This painful experience gives support to the individualization of an acquired 21 OH DAH genetically different (and possibly clinically as well : only girls with late-onset virilisation have been reported so far) from the congenital form and indicates that prenatal diagnosis of the affection should not be based upon fetal HLA typing only." @default.
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- W2068752825 date "1981-01-01" @default.
- W2068752825 modified "2023-10-18" @default.
- W2068752825 title "Misleading prediction from fetal HLA typing in the prenatal diagnosis of 21 hydroxylase deficiency adrenal hyperplasia (21 OH DAH" @default.
- W2068752825 doi "https://doi.org/10.1203/00006450-198101000-00047" @default.
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