CAH Newborn Screening in India: Challenges and Opportunities

Area of Science:

• Pediatric Endocrinology
• Genetics
• Public Health

Background:

• Congenital adrenal hyperplasia (CAH) is a common, treatable genetic disorder with severe consequences if undiagnosed.
• Untreated CAH can lead to life-threatening adrenal crisis, ambiguous genitalia, and growth abnormalities.
• Newborn screening is an effective strategy for early detection and management of CAH.

Purpose of the Study:

• To review the current status of newborn screening for CAH in India.
• To identify challenges hindering universal newborn screening for CAH in India.
• To highlight the potential benefits and opportunities of implementing newborn screening for CAH in a large Indian birth cohort.

Main Methods:

• Literature review on newborn screening programs for CAH.
• Analysis of challenges in implementing universal newborn screening in India.
• Discussion of opportunities for improved infant outcomes and gender assignment.

Main Results:

• Newborn screening for CAH is not universally implemented in India.
• Key challenges include lack of universal screening infrastructure and limited healthcare resources.
• Opportunities include reducing CAH-related morbidity and enabling early, accurate gender assignment for affected females.

Conclusions:

• Universal newborn screening for CAH in India is essential for early diagnosis and management.
• Addressing resource limitations and establishing screening protocols are critical next steps.
• Implementing screening will significantly improve health outcomes and reduce long-term complications for affected infants.