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Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
M S MS Pollack, D D Maurer, L S LS Levine, M I MI New, S S Pang, M M Duchon, R P RP Owens, I R IR Merkatz, B M BM Nitowsky, G G Sachs and B B Dupont
Lancet 1(8126):1107-8 (1979)
PMID 86832
Congenital adrenal hyperplasia (C.A.H.) due to 21-hydroxylase deficiency is an HLA-linked recessive disorder. HLA-A and B antigens are expressed on amniotic cells. Prenatal diagnosis of C.A.H. by HLA typing of families and amniotic cells was attempted in two at-risk families. In one family HLA typing indicated that the fetus would have C.A.H., and this prediction was confirmed after birth. In the second family, HLA typing indicated that the fetus would be an unaffected, phenotypically normal carrier of the disease gene, and this prediction was also confirmed after birth.
DOI: 10.1016/S0140-6736(79)91789-6
Version: za2963e q8zaf q8zb2 q8zc3 q8zd1 q8zef q8zf5 q8zg7
DOI: 10.1016/S0140-6736(79)91789-6
Version: za2963e q8zaf q8zb2 q8zc3 q8zd1 q8zef q8zf5 q8zg7