Prenatal Diagnosis and Treatment of Genetic Steroid Disorders

Abstract 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.