Abstract:
ob<x>jective To explore the correlation between fetal soft ultrasound markers and chromosomal copy number variations (CNVs), thus providing experimental evidence for the choosing of prenatal diagnosis for fetus with fetal soft ultrasound markers. Methods A retrospective analysis was performed on 580 singleton pregnant women with ultrasound examination showed soft indicators of fetal ultrasound not accompanied with obvious ultrasonic structural abnormalities who received medical treatment in Xuzhou Maternal and Child Health Hospital from December 2019 to December 2021.??Chromosomal Microarray Analysis of Amniotic Fluid Extraction (CMA) ?.??According to the number of soft indexes, the pregnant women were divided into single ultrasonic soft indexes group (486 cases) and two or more ultrasonic soft indexes group (94 cases).??Single ultrasonic soft indexes were divided into 10 subgroups according to different types, and the incidence of CNVs in each group and among each subgroup was compared. ?Results The overall incidence of chromosomal CNVs in 580 samples was 13.4% (78/580). The incidence of chromosomal CNVs in the group with two or more soft ultrasound indexes was 31.9% (30/94), which was significantly higher than that in the group with single soft ultrasound marker (9.9%, 48/486).?The difference was statistically significant (P<0.001). ?The higher chromosome CNVs detection rate in single soft ultrasound index group was: nasal bone deletion/incomplete ossification 17.3% (18/104), cervical transparent la<x>yer (NT) thickening/posterior cervical skin folds (NF) 14.2% (15/106). Conclusion In prenatal counseling, CMA is recommended for invasive prenatal diagnosis in pregnancy women with two or more soft ultrasound marker and single soft ultrasound marker, such as nasal bone loss/incomplete ossification and NT/NF thickening.