Progress of newborn screening in China

Area of Science:

• Public Health
• Genetics
• Medical Technology

Background:

• Newborn screening (NBS) is crucial for mitigating birth defect risks.
• China's NBS program, initiated in the early 1980s, operates under national health administration leadership.
• Screening centers in public hospitals manage publicity, screening, diagnosis, treatment, and follow-up.

Purpose of the Study:

• To provide a comprehensive overview of the evolution of NBS in China.
• To detail policy changes, institutional development, screening technologies, and quality control measures.
• To highlight the impact of technological and ethical advancements on NBS.

Main Methods:

• Review of historical data on NBS policies and implementation in China.
• Analysis of the evolution of screening technologies from biochemical markers to genetic testing.
• Examination of the Quality Management System for Newborn Screening System Network (QMS-NBS) for quality control.

Main Results:

• As of 2022, NBS is implemented across 31 provinces for key conditions like phenylketonuria and congenital hypothyroidism.
• Screening rates for glucose-6-phosphate dehydrogenase and congenital adrenal cortical hyperplasia exceed 89% in participating provinces.
• Screening techniques have advanced from bacterial inhibition to genetic testing, with metabolomics and genomics integration being explored.

Conclusions:

• Progress in China's NBS is driven by technological standardization and robust policy, regulatory, and ethical frameworks.
• The QMS-NBS ensures transparent, measurable, and high-quality screening services nationwide.
• Continued advancements in screening technology and management are vital for effective birth defect control.