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

doi:10.1016/S0140-6736(79)91789-6

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 journal › Article › peer-review

97 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 language	English (US)
Pages (from-to)	1107-1108
Number of pages	2
Journal	The Lancet
Volume	313
Issue number	8126
DOIs	https://doi.org/10.1016/S0140-6736(79)91789-6
State	Published - May 26 1979
Externally published	Yes

ASJC Scopus subject areas

General Medicine

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@article{a4198d82f2fd440d9866bd249be67492,

title = "PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPING",

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.",

author = "Pollack, {M. S.} and Levine, {L. S.} and S. Pang and Owens, {R. P.} and Nitowsky, {H. M.} and B. Dupont and D. Maurer and New, {M. I.} and M. Duchon and Merkatz, {I. R.} and G. Sachs",

note = "Funding Information: This work was supported in part by grants from the U.S. Public Health Service CA 19267, CA 08748, CA 22507, RR47 and GM 191000, and NC1 and NIH contracts CB 84255-31 and AI 82557.",

year = "1979",

month = may,

day = "26",

doi = "10.1016/S0140-6736(79)91789-6",

language = "English (US)",

volume = "313",

pages = "1107--1108",

journal = "The Lancet",

issn = "0140-6736",

publisher = "Elsevier Limited",

number = "8126",

}

TY - JOUR

T1 - PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPING

AU - Pollack, M. S.

AU - Levine, L. S.

AU - Pang, S.

AU - Owens, R. P.

AU - Nitowsky, H. M.

AU - Dupont, B.

AU - Maurer, D.

AU - New, M. I.

AU - Duchon, M.

AU - Merkatz, I. R.

AU - Sachs, G.

N1 - Funding Information: This work was supported in part by grants from the U.S. Public Health Service CA 19267, CA 08748, CA 22507, RR47 and GM 191000, and NC1 and NIH contracts CB 84255-31 and AI 82557.

PY - 1979/5/26

Y1 - 1979/5/26

N2 - 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.

AB - 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.

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AN - SCOPUS:0018746735

SN - 0140-6736

VL - 313

SP - 1107

EP - 1108

JO - The Lancet

JF - The Lancet

IS - 8126

ER -

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

Abstract

ASJC Scopus subject areas

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