Neonatal genetic screening in Changsha: a multicenter study and preliminary findings

Area of Science:

• Genomics
• Public Health
• Neonatal Medicine

Background:

• Newborn screening (NBS) identifies infants with severe genetic disorders.
• Next-generation sequencing (NGS) offers rapid, large-scale genetic analysis for improved NBS.
• Genomic sequencing enhances sensitivity and specificity in neonatal genetic screening.

Purpose of the Study:

• To explore the incidence and mutation spectrum of genetic disorders in Chinese neonates.
• To propose an optimized neonatal genetic screening model.
• To leverage NGS for enhanced disease detection in NBS programs.

Main Methods:

• Screened 2019 neonatal samples using a panel of 135 pathogenic genes for 75 genetic disorders.
• Conducted a multicenter collaboration in Changsha.
• Utilized next-generation sequencing technology.

Main Results:

• Achieved a positive detection rate of 0.74% for genetic disorders.
• Observed a carrier rate of 31.50% within the screened population.
• Characterized the mutation spectrum of common genetic disorders in neonates.

Conclusions:

• The study provides valuable data for refining neonatal genetic screening protocols in China.
• NGS-based screening demonstrates potential for improving NBS effectiveness.
• Findings support the integration of advanced genomic technologies into public health initiatives.