NT超声联合血清学检测筛查孕早期胎儿染色体异常的应用  

Application of NT Ultrasound Combined with Serology in Screening Fetal Chromosomal Abnormalities in Early Pregnancy

作　　者：范绮贤 钟雪仪 冼光宇 FAN Qi-xian;ZHONG Xue-yi;XIAN Guang-yu(The First People's Hospital of Zhaoqing,Guangdong Zhaoqing 526000)

机构地区：[1]肇庆市第一人民医院,广东肇庆526000

出　　处：《深圳中西医结合杂志》2021年第18期79-82,共4页Shenzhen Journal of Integrated Traditional Chinese and Western Medicine

摘　　要：目的:探讨胎儿颈后透明层厚度(NT)超声联合血清学指标检测在孕早期胎儿染色体异常筛查中的应用价值。方法:对2018年1月至2020年6月于肇庆市第一人民医院进行产检的2125例单胎孕妇进行回顾性分析,孕妇均接受NT超声检查与血清学指标检测[游离β-人绒毛膜促性腺激素(fβ-HCG)、妊娠相关蛋白-A(PAPPA)],以随访结果为金标准,对其筛查结果进行回顾性分析。结果:孕妇的引产或妊娠结局显示,2125例胎儿中,染色体异常11例,胎儿染色体异常发生率为0.52%;其中18三体综合征2例,21三体综合征6例,13三体综合征1例,45X染色体异常1例,染色体片段异常1例;其中NT超声显示胎儿染色体异常9例,血清学指标检测显示胎儿染色体异常6例,联合检查显示胎儿染色体异常11例。联合检查的灵敏度、阳性预测值均高于两种检查方法单用,差异具有统计学意义(P<0.05)。结论:NT超声检查联合血清学检测在孕早期胎儿染色体异常的筛查中具有较高的诊断效能,利于优生优育。Objective To explore the application value of ultrasound combined with serological index detection in the screening of fetal chromosomal abnormalities in the first trimester of fetal chromosomal abnormalities.Methods A retrospective analysis of 2125 singleton pregnant women who underwent maternity check-ups at the First People's Hospital of Zhaoqing from January 2018 to June 2020.All pregnant women underwent NT ultrasound examination and serological test(freeβ-human chorionic membrane).Gonadotropin(fβ-HCG),pregnancy-associated protein-A(PAPPA),with follow-up results as the gold standard,and retrospective analysis of the screening results.Results The pregnancy outcome or induction of pregnant women showed that among the 2125 fetuses,11 had chromosomal abnormalities,and the incidence of fetal chromosomal abnormalities was 0.52%.Among them,there were 2 cases of trisomy 18,6 cases of trisomy 21,and trisomy 13 There were 1 case,1 case of 45X chromosome abnormality,and 1 case of chromosome fragment abnormality.Among them,NT ultrasound showed 9 cases of fetal chromosome abnormality,serological index test showed 6 cases of fetal chromosome abnormality,and combined examination showed 11 cases of fetal chromosome abnormality.The sensitivity and positive predictive value of the combined inspection were higher than the two inspection methods alone,and the difference was statistically significant(P<0.05).Conclusion NT ultrasonography combined with serological index detection has high diagnostic efficiency in the screening of fetal chromosomal abnormalities in the first trimester,which is beneficial to prenatal and postnatal care.

关 键 词：染色体异常 胎儿颈后透明层厚度 超声检查 血清学指标 孕早期 产前筛查 

分 类 号：R596.1[医药卫生—内科学]