超声软指标在胎儿染色体异常的应用价值

The Application Value of Ultrasound Soft Markers in Fetal Chromosome Abnormality

摘要: 目的：探讨孕早中期超声软指标胎儿颈项透明层NT、颈后皮肤褶皱NF筛查高风险与胎儿非整倍体染色体异常的相关性及应用价值。方法：回顾性分析2022年1月至2022年10月榆林市第一医院21-三体综合征高风险孕妇，其中有孕妇孕早期NT值阳性和孕中期NF值阳性，联合无创产前检测技术检测结果T21高风险，进一步行羊膜腔穿刺取羊水细胞染色体核型分析为21-三体综合征。结论：孕早中期超声软指标胎儿颈项透明层NT、颈后皮肤褶皱NF检测联合无创产前检测可以提高胎儿非整倍体异常筛查的阳性率。

Abstract: Objective: To investigate the correlation and application value of ultrasound soft indicators in the first and second trimester of fetal nuchal translucency NT and nuchal fold NF screening with fetal aneuploidy. Methods: Retrospective analysis was performed on pregnant women at high risk of trisomy 21 syndrome in the First Hospital of Yulin City from January 2022 to October 2022. Among them, there were positive NT value and positive NF value in the early pregnancy and high risk of T21 in combination with non-invasive prenatal testing technology. Further amniocentesis was performed to obtain chromosome karyotype analysis of amniotic fluid cells for trisomy 21 syn-drome. Conclusion: The detection of nuchal translucency NT and nuchal fold NF combined with non-invasive prenatal testing can improve the positive rate of fetal aneuploidy screening.