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

Hum Genet. 1986 Aug;73(4):358-64. doi: 10.1007/BF00279101.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone
  • Adrenal Hyperplasia, Congenital* / diagnosis*
  • Chorionic Villi / analysis
  • DNA / genetics
  • DNA Restriction Enzymes
  • Female
  • Fetal Diseases / diagnosis
  • Genetic Linkage*
  • Genetic Markers
  • HLA Antigens / genetics
  • Humans
  • Hydroxyprogesterones / analysis*
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*
  • Radioimmunoassay
  • Steroid 21-Hydroxylase / genetics
  • Steroid Hydroxylases / deficiency*


  • Genetic Markers
  • HLA Antigens
  • Hydroxyprogesterones
  • 17-alpha-Hydroxyprogesterone
  • DNA
  • Steroid Hydroxylases
  • Steroid 21-Hydroxylase
  • DNA Restriction Enzymes