First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination |
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| Authors: | E Mornet J Boué M Raux-Demay P Couillin J F Oury Y Dumez J Dausset D Cohen A Boué |
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| Institution: | (1) Centre d'Etudes du Polymorphisme Humain, 3 rue d'Ulm, F-75005 Paris, France;(2) Unité 73, Institut National de la Santé et de la Recherche Médicale, Chateau de Longchamps, F-75016 Paris, France;(3) Laboratoire d'Explorations Fonctionnelles Endocriniennes, Hôpital Trousseau, F-75771 Paris Cedex, France;(4) Maternité Hôpital René Dubos, F-95301 Pontoise, France;(5) Clinique Universitaire Port Royal, F-75014 Paris, France |
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| Abstract: | Summary 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. |
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