Prenatal genetic testing and treatment for congenital adrenal hyperplasia
In utero treatment of 21-hydroxylase congenital adrenal hyperplasia by dexamethasone prevents genital ambiguity in affected females. Noninvasive detection is now possible, and preimplantation genetic testing allows selection of only unaffected embryos.
Volume 111, Issue 1, Pages 21–23
Joe Leigh Simpson, M.D., Svetlana Rechitsky, Ph.D.
Couples at risk for autosomal recessive congenital adrenal hyperplasia often request anticipatory guidance and genetic counseling. Initially, hormones in amniotic fluid were measured to distinguish affected female fetuses from unaffected fetuses. With the molecular era, more-targeted approaches became possible. Prenatal genetic diagnosis via amniocentesis or chorionic villus sampling was used to determine the need for continuing fetal therapy (dexamethasone), allowing cessation if the fetus was unaffected. Newer methods now allow diagnosis earlier in gestation, further shortening the treatment time for unaffected female fetuses who will not develop genital ambiguity. Preimplantation genetic testing permits transfer only of an unaffected female or male fetus. Analysis of maternal cell-free DNA based on quantitative differences in the amount of allele parental DNA permits affected pregnancies to be differentiated from unaffected pregnancies.