[The progress, challenges and opportunities of neonatal genome screening]

Neonatal screening is one of the crucial parts of the tertiary prevention strategy to reduce congenital disability. Traditional neonatal screening, mainly focusing on genetic metabolic diseases, has limitations in disease types and requires genetic testing for further validation and accurate typing. Currently, conducting genetic screening based on biochemical metabolite screening has become the trend in neonatal screening. This article synthesizes the current state of neonatal genome screening at home and abroad. Herein, the comprehensive concepts of "SNV Plus" (single nucleotide variation plus) and "CNV Plus" (copy number variation plus) have been proposed to develop a new technology that can detect the gene structure of SNV and CNV simultaneously and improve the level of neonatal genome screening based on characteristics of the pathogenic gene structure.