Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.
非综合征型唇腭裂（NSOC）是我国常见的出生缺陷。近年来，随着我国生育政策相继调整两次，与高龄生育伴发的出生缺陷防控形势日益严峻。开展NSOC风险预测将为健全出生缺陷防控链条提供重要证据。近年来，全基因组关联研究和二代测序等发现了多个与NSOC有关的遗传位点，为开展预测提供了有益信息。本文综述了NSOC风险预测，特别是利用遗传信息开展风险预测的常用方法，以期在研究设计、变量筛选、构建策略及评价方法等方面，为进一步开发和完善NSOC等复杂出生缺陷的风险预测模型提供参考。.