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.
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- Authors
- 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.
- Affiliations
- Cornell University (US)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1979-05
- Volume
- 313
- Issue
- 8126
- Pages
- 1107-1108
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2134898993
- Cited by
- 126
- References
- 11
- Citations by year
- 2025: 1 · 2023: 1 · 2021: 2 · 2017: 1 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 1
- FWCI
- 8.34
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, prenatal diagnosis, HLA typing, amniotic fluid cells, recessive inheritance, carrier detection, high-risk families
- MeSH terms
- Adrenocortical Hyperfunction, Amniotic Fluid, Cells, Cultured, Female, Genotype, Genetic Carrier Screening, Histocompatibility Testing, HLA Antigens, Humans, Mixed Function Oxygenases, Infant, Newborn, Male, Pregnancy, Pregnancy Trimester, Second, Prenatal Diagnosis
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