Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders caused by defects in the enzymes of the adrenal gland required for synthesis of the hormone cortisol. The most common type of CAH results from low production of the enzyme 21-hydroxylase. A classically affected fetus is exposed to high levels of androgens in utero as a result of 21-hydroxylase deficiency.
Dr. New pioneered prenatal diagnosis of CAH and prenatal treatment of classical CAH. She has the only clinic in the United States which routinely provides this service. Prenatal treatment of classically affected females prevents development of ambiguous genitalia as a result of exposure to high levels of androgens in utero. Prenatal diagnosis of affected children of both sexes enables families at risk to ensure optimal care of newborns.
Dr. New has developed prenatal diagnosis and treatment for CAH since 1984. She has treated over 600 pregnant women at risk for the birth of a CAH-affected child. Treatment begins as soon as pregnancy is confirmed. Diagnosis of the fetus is done by analysis of fetal DNA collected by chorionic villus sampling or amniocentesis. The Mount Sinai Laboratory of Pediatric Endocrinology directed by Dr. New and Dr. Robert Wilson screens for 9 gene defects in the 21-hydroxylase gene. This represents 95% of all mutations of that gene locus. DNA analysis indicates whether a child is affected with classical or nonclassical CAH or is unaffected with 95% accuracy.
Dr. New maintains contact with all children treated prenatally, and has found not permanent adverse effects of treatment on mother or fetus. Thus, with nearly 20 years’ experience, the treatment has been found safe for mother and child.
For more information about our laboratory services, please call our genetic counselor at:
(212) 241-7962 and visit www.marianew.com.