胎儿颈项透明层增厚的产前诊断研究进展

Research progress on prenatal diagnosis of thickening of nuchal translucency in fetuses

颈项透明层(NT)测量是妊娠11-13^(+6)周胎儿超声检查的常规项目,NT异常增厚是胎儿遗传学异常、结构异常及其他病理状况的重要超声标记物之一。既往针对NT增厚胎儿的遗传学检查主要为细胞水平的染色体核型分析技术及分子水平的拷贝数变异检测。近年来,全外显子组测序技术的快速发展将NT增厚的遗传学病因研究深入到基因层面,给NT增厚胎儿的产前诊断带来了新的选择。本文就胎儿NT增厚的产前诊断研究进展予以综述,以期为出生缺陷的产前防控提供参考依据。

The measurement of nuchal translucency(NT)is a routine program in fetal ultrasound examination at 11 to 13^(+6) weeks of gestation,and abnormal NT thickening is one of the important ultrasonic markers for fetal genetic abnormalities,structural abnormalities and other pathological conditions.Previous genetic tests for NT thickening fetuses mainly include chromosome karyotype analysis at cellular level and copy number variation detection at molecular level.In recent years,with the rapid development of whole exome sequencing technology,the genetic etiology of NT thickening has been deeply studied at the gene level,which brings a new choice for prenatal diagnosis of NT thickening fetuses.This article reviewed the research progress of prenatal diagnosis of fetal NT thickening in order to provide reference for prenatal prevention and control of birth defects.