First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

✍ Scribed by E. Mornet; J. Boué; M. Raux-Demay; P. Couillin; J. F. Oury; Y. Dumez; J. Dausset; D. Cohen; A. Boué

• Publisher: Springer
• Year: 1986
• Tongue: English
• Weight: 961 KB
• Volume: 73
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00279101

✦ Synopsis

The close genetic linkage between the gene for congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and HLA genes allowed us to use the polymorphism of this system as a marker of the disease. HLA genotyping can be performed by using restriction enzyme fragments hybridized with specific probes instead of serologic methods. In seven pregnancies at risk for 21-OH deficiency, a first trimester prenatal diagnosis has been performed by determining the fetal genotype by linkage analysis of DNA from chorionic villi using HLA class I and class II probes. In four of these pregnancies, determination of 17-OH progesterone in first trimester amniotic fluid afforded a complementary approach to the diagnosis.