[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas].

OBJECTIVE: To investigate the incidence of congenital adrenal hyperplasia (CAH) in Shanghai areas by a neonatal screening program. METHODS: Heel prick blood samples were collected from 50 600 newborns in 50 maternal and child health care hospitals and maternity hospitals 72 hours after their birth and adsorbed onto standard filter paper for determining 17-hydroxyprogesterone (17-OHP) by enzyme linked-immunosorbent assay (ELISA). RESULTS: Level of 17-OHP was significantly increased in eight cases of the 50 600 newborns, three cases of whom with established CAH with hyponatremia, hyperkalemia and hypertestosteronemia duo to 21-hydroxylase deficiency, and other five cases with high level 17-OHP due to preterm delivery. CONCLUSIONS: Determining 17-OHP level on dried blood spotted filter paper is a reliable and practical approach for CAH mass screening in neonates. The incidence of CAH in Shanghai areas was 5.93 per 100 000 newborns (3/50 600).