不同检测方法筛查高危孕妇胎儿染色体非整倍体结果对比及妊娠结局分析

Comparison of chromosomal aneuploidy results and pregnancy outcome analysis in high-risk pregnant women by different detection methods

目的探讨对高危孕妇行超声颈部半透明层厚度(NT)、血清学筛查与无创产前基因检测(NIPT)联合筛查胎儿染色体非整倍体结果对比以及妊娠结局的应用价值。方法选取我院2015年12月至2016年2月收治的高危孕妇240例,对其行超声NT、血清学筛查与NIPT联合筛查。结果对240例高危孕妇进行超声NT筛查,其中4例胎儿显示为畸形;NIPT筛查结果提示异常17例(18-三体高风险7例,21-三体高风险10例),妊娠结局:8例引产,9例胚胎停止发育,终止妊娠。结论在高危孕妇胎儿染色体非整倍体检查中行超声NT、血清学筛查与NTPT筛查,有效地降低高危产妇进行侵入性产前诊断的数量,改变了高危孕妇妊娠人为终止的结局,降低了胎儿流产的危险。

Objective To investigate the effects of cervical translucent layer thickness （NT）, serological screening and noninvasive prenatal genetic testing （NIPT） on the screening of fetal chromosomal aneuploidy in high-risk pregnant women as well as the application of pregnancy outcome. Method Selected 240 cases of high-risk pregnant women admitted to our hospital from December 2015 to February 2016. Ultrasonography, NT, serological screening and NIPT was performed. Result Ultrasound screening of NT in 240 cases of high-risk pregnant women showed 4 cases of fetal deformities. The results of NIPT showed 17 cases abnormal. The pregnant outcome were 8 cases of abortion, 9 cases of termination of pregnancy. Conclusion In high-risk pregnant women with fetal chromosomal aneuploidy in NT, ultrasound examination serological screening and NTPT screening, effectively reduce the risk of maternal prenatal diagnosis of invasive number, changed the artificial termination of pregnancy outcomes in high-risk pregnant women, reduced the risk of miscarriage.