[Expert consensus on the diagnosis, exclusion, and follow-up for newborns with positive genetic screening results by next-generation sequencing (2026 Edition)].

Summary

This Chinese expert consensus addresses the diagnosis, exclusion and follow-up of newborns with positive results from next-generation sequencing-based genetic screening. It was developed by a screening group of the Chinese Preventive Medicine Association through multiple rounds of expert discussion. It sets out principles for confirming, excluding or suspecting diagnoses, using example conditions across systems including metabolic, haematological, immunodeficiency, neuromuscular, renal, hearing and eye disorders. The aim is to standardise screening practice, improve early diagnosis and optimise follow-up and management.

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