Objective：To explore the clinical value of prenatal ultrasound in suggesting thickening of the nuchal translucency（NT） in fetuses and to compare it with the results of genetic prenatal diagnosis. Methods：The results of ultrasound and genetic prenatal diagnosis of 106 fetuses with thickening of the NT were compared and analyzed（all fetuses were subjected to chromosomal microarray analysis，with whole - exome sequencing in four cases and SMN1 gene testing in one case），and pregnancy outcomes were followed. Results：A total of 44 cases（41.51%）of genetic abnormalities and 2 cases of copy number variants of unknown clinical significance were identified. These genetic abnormalities included 39 cases of chromosomal abnormalities（34 cases of aneuploidy abnormalities and 5 cases of pathogenic copy number variants）and 5 cases of genetic abnormalities（all pathogenic or suspected pathogenic variants）. The incidence of genetic abnormalities increased significantly with increasing thickness of the NT. In addition，38（86.36%）of 44 fetuses with genetic abnormalities were combined with other ultrasound abnormalities，with the highest percentage of nasal bone dysplasia. Conclusion：When thickened NT is detected in fetuses，chromosomal abnormalities，especially aneuploidy，should be considered first. The thickened NT is also associated with copy number variations and certain monogenic inherited diseases. For fetuses with thickened NT and negative chromosome microarray analysis，comprehensive consideration including ultrasound and family history may warrant the whole-exome sequencing.