[Expert consensus on the diagnosis, exclusion, and follow-up for newborns with positive genetic screening results by...

With the application of high-throughput sequencing technology in neonatal genetic disease screening, the scope of screened diseases has significantly expanded. However, after recall and further examination of positive screening results, physicians may encounter difficulties in the diagnosis, treatment, and follow-up. To tackle these, the Screening Group of Neonatal Genetic Metabolic Disease, Special Committee for Birth Defects Prevention and Control, Chinese Preventive Medicine Association has organized experts from relevant fields. By referencing domestic and international expert consensuses and research findings on disease diagnosis and treatment, a consensus has been formulated through multiple rounds of discussions. It has summarized the principles for confirming, excluding, and suspecting diagnoses in neonates with positive genetic screening results, with typical genetic diseases across different systems used as examples. These include genetic metabolic disorders, hematological genetic diseases, immunodeficiency disorders, neuromuscular genetic diseases, hereditary kidney diseases, hereditary hearing loss, and hereditary eye diseases. The aim is to provide standardized and practical guidance for neonatal genetic screening, promote standardized and efficient screening practices, improve early diagnosis rates for genetic diseases, further optimize follow-up and management strategies, and improve the prognosis of patients.