Abstract: 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.