Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing.
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.
D000308:Adrenocortical Hyperfunction / Q000175:diagnosis* / Q000235:genetics; D000653:Amniotic Fluid / Q000166:cytology / Q000276:immunology*; D002478:Cells, Cultured; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis* / Q000235:genetics; D006650:Histocompatibility Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis
D006680:HLA Antigens; D006899:Mixed Function Oxygenases