Пренатальная диагностика врожденной дисфункции коры надпочечников

Abstract

Enlarged nuchal translucency and nasal bone hypoplasia are considered as markers of chromosomal abnormalities and fetal malformations, although enlarged nuchal translucency can be detected in a healthy fetus and completely disappear by 14–15 weeks’ gestation and can also be observed when the karyotype is normal (in antenatal fetal death, congenital heart disease, miscarriage, preterm birth). The study of markers of chromosomal abnormalities is of practical interest in terms of accumulating information and gaining experience in using them for prenatal diagnosis. A case of accurate sex determination in the fetus with salt-wasting form of congenital adrenal hyperplasia and virilization of the external genitalia (Prader grade IV) at birth is presented. Highly effective prenatal screening including amniocentesis and karyotyping (46XX) at 13 weeks’ gestation ensured that pediatricians were prepared for timely prescription of gluco- and mineralocorticoid replacement therapy. This enabled to prevent the development of acute adrenal crisis and choose adequate management tactics, thereby providing normal puberty and potential fertility. Key words: congenital adrenal hyperplasia, prenatal screening, enlarged nuchal translucency