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

M. S. Pollack, L. S. Levine, S. Pang, R. P. Owens, H. M. Nitowsky, B. Dupont, D. Maurer, M. I. New, M. Duchon, I. R. Merkatz, G. Sachs

Research output: Contribution to journalArticle

79 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1107-1108
Number of pages2
JournalThe Lancet
Volume313
Issue number8126
DOIs
StatePublished - May 26 1979

ASJC Scopus subject areas

  • Medicine(all)

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    Pollack, M. S., Levine, L. S., Pang, S., Owens, R. P., Nitowsky, H. M., Dupont, B., Maurer, D., New, M. I., Duchon, M., Merkatz, I. R., & Sachs, G. (1979). PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPING. The Lancet, 313(8126), 1107-1108. https://doi.org/10.1016/S0140-6736(79)91789-6