Clinical Value of Ultrasound Fetal Neck Transparent Layer Index in Early Screening of 21-Trisomy Syndrome

摘要

This study used a retrospective analysis method to select 1061 pregnant women from March 2012 to December 2018 to our hospital for obstetrics, and 11-11 weeks+6 days of ultrasound screening for NT values, according to inclusion criteria and exclusion. There were 60 patients who met the criteria of the experimental group and 313 who met the criteria of the control group. All of them were subjected to fetal villus puncture in early pregnancy or amniocentesis in middle pregnancy. The specimens were divided into two parts, one was cultured through cells and the chromosomes were prepared. Analysis and send a copy to a collaborative laboratory for highthroughput sequencing of chromosomes. The aim was to investigate the association between simple cervical thickening (NT) thickening and karyotype and chromosomal microdeletion/microreplication in 11-13 weeks + 6 days of gestation. The results of this study show that NT thickening is associated with karyotypic abnormalities, especially with 21-trisomy syndrome: when karyotype is normal, NT thickening is associated with chromosome microdeletions/microduplication; only a single NT increase when thick, the meaning of CNVs detection is not significant.