Prenatal diagnosis and treatment of genetic steroid disorders

Joe Leigh Simpson, Svetlana Rechitsky, Ahmed Khattab, Maria New

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Prenatal diagnosis serves as a complementary and increasingly essential tool in providing anticipatory guidance and genetic counseling for disease risk of inherited disorders, and is often requested by families with an affected proband. Fortunately, the use of prenatal diagnosis and fetal rescue therapy has become increasingly popular for disorders that may be lethal and associated with fetal malformations. Disorders that are amenable to therapy include, but are not limited to, pulmonary, cardiac, gastrointestinal, endocrine, renal, and immune disorders. Although amniocentesis and chorionic villous sampling are widely used invasive prenatal testing techniques, noninvasive prenatal testing has recently emerged and has become increasingly implemented. The genetic basis of multiple steroid disorders has been extensively described, many of which have been associated with significant morbidity and mortality. The advantages of prenatal diagnosis and management appear to be very attractive. The scope of this chapter will focus on prenatal diagnosis and management of CAH as one of the most common genetic steroid disorders amenable to therapy.

Original languageEnglish
Title of host publicationHuman Reproductive and Prenatal Genetics
Number of pages6
ISBN (Electronic)9780128135709
ISBN (Print)9780128135716
StatePublished - 1 Jan 2018


  • CYP21A2 gene
  • Congenital adrenal hyperplasia
  • Invasive prenatal diagnosis
  • Noninvasive prenatal diagnosis
  • Preimplantation genetic testing


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