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[Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]
Xuefan Gu1, Jiande Zhou, Jun Ye
1Research Center Xin Hua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatrics Research, Shanghai 200092, China.
Insights
Congenital adrenal hyperplasia (CAH) screening in Shanghai found an incidence of 5.93 per 100,000 newborns. This study highlights the effectiveness of neonatal screening for CAH.
Area of Science:
- Neonatal screening
- Endocrinology
- Genetics
Context:
- Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands.
- Neonatal screening programs are crucial for early detection and management of CAH.
- Shanghai implemented a neonatal screening program to assess CAH incidence.
Purpose:
- To determine the incidence of congenital adrenal hyperplasia (CAH) in Shanghai.
- To evaluate the efficacy of neonatal screening for CAH using 17-hydroxyprogesterone (17-OHP) levels.
Summary:
- A neonatal screening program in Shanghai analyzed 50,600 newborns for CAH.
- Elevated 17-hydroxyprogesterone (17-OHP) levels were detected in eight infants; three were confirmed cases of CAH due to 21-hydroxylase deficiency.
- Five cases showed elevated 17-OHP due to preterm birth, demonstrating the need for careful interpretation.
Impact:
- The study established the incidence of CAH in Shanghai at 5.93 per 100,000 newborns.
- It confirmed that measuring 17-OHP on dried blood spots is a reliable method for mass CAH screening in neonates.
- Early detection through screening can lead to timely intervention and improved outcomes for affected infants.
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).