无创产前检测用于胎儿染色体微缺失/微重复的研究进展

Clinical research progress of non-invasive prenatal detection for fetal chromosome microdeletion/microrepetition

据相关统计,不明原因的智力低下、多发畸形及发育迟缓中约有12%是由染色体微缺失/微重复所致。国内外多个机构升级了无创产前检测(non-invasive prenatal testing,NIPT)的检测服务范围,加入了染色体拷贝数变异(copy number variation,CNV)即NIPT-Plus。本文将对NIPT-Plus产前检测技术近年来在临床中的应用做相关介绍,并展望NIPT-Plus的应用前景。

According to relevant statistics,about 12%of hypoevolutismus,mental retardation and multiple malformations are due to chromosome microdeletion/microduplication.Multiple institutions at home and abroad have upgraded the scope of non-invasive prenatal testing(non-invasive prenatal testing,NIPT)services for fetal aneuploidy assessment,added to the chromosome copy number variant(copy number variation),or NIPT-Plus.This article will introduce the application of NIPT-Plus prenatal detection technology in clinic in recent years,and look forward to the application prospect of NIPT-Plus.