Neonates are a high⁃risk population for genetic diseases. Although the morbidity of genetic diseases is low, their vast variety and often nonspecific clinical manifestations make early diagnosis and treatment challenging, placing significant psychological and economic burdens on families and society. In recent years, the advancement of next⁃generation sequencing has greatly facilitated the screening and diagnosis of genetic diseases in neonates, leading to substantial progress. This paper reviews the application of next⁃generation sequencing in the screening and diagnosis of neonatal genetic diseases, aiming at providing reference for its clinical implementation.  

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