唐氏筛查高风险孕妇合并不同产前诊断指征的产前诊断结果分析  

Analysis of prenatal diagnosis results for pregnant women with high-risk Down's syndrome screening combined with different prenatal diagnosis indications

作　　者：梁成鸿 Liang Chenghong(Medical Genetics Center,Zhanjiang Maternal and Child Health Hospital,Zhanjiang,Guangdong 524038,China)

机构地区：[1]湛江市妇幼保健院医学遗传中心,广东湛江524038

出　　处：《齐齐哈尔医学院学报》2024年第19期1857-1860,共4页Journal of Qiqihar Medical University

摘　　要：目的分析唐氏筛查高风险孕妇在合并不同产前诊断指征下,产前诊断结果的分布情况,并探讨不同筛查策略的价值,旨在为临床的产前诊断和遗传咨询提供科学依据和实用参考。方法回顾性分析2020—2023年本院收治的因唐氏筛查高风险进行羊水穿刺的1308例孕妇产前诊断结果。根据不同产前诊断指征将其分为单独唐氏筛查高风险组576例,唐氏筛查高风险合并高龄组175例,唐氏筛查高风险合并不良孕产史组136例,唐氏筛查高风险合并超声异常组114例,唐氏筛查高风险合并无创异常组63例,唐氏筛查高风险合并其他一项指征组8例,唐氏筛查高风险合并两项及以上指征组236例,比较不同产前诊断指征人群的染色体异常检出率。结果1308例唐氏筛查高风险孕妇共检出176例染色体异常,染色体数目异常检出最多,主要是21-三体综合征,共有104例(59.09%),其次是18-三体综合征,有26例(14.77%),结构异常13例(占7.39%),嵌合体异常16例(占9.09%);单独唐氏筛查高风险组异常检出率为3.65%(21/576),唐氏筛查高风险合并超声异常组异常检出率为10.53%(12/114),唐氏筛查高风险合并无创异常组异常检出率为57.14%(36/63),唐氏筛查高风险合并两项及以上指征组异常检出率为38.14%(90/236);唐氏筛查高风险合并超声异常、合并无创异常、合并两项及以上指征的人群均比单独唐氏筛查高风险染色体异常检出率高(P<0.0022)。结论在孕妇产前筛查中,采用综合产前筛查策略,即结合唐氏筛查、超声、无创等多种筛查手段,可以显著提高染色体异常的检出率,特别是针对21-三体综合征和18-三体综合征等常见染色体疾病。Objective To analyze the distribution of prenatal diagnosis results in pregnant women with high-risk Down syndrome screening and to explore the value of different screening strategies,aiming to provide a scientific basis and practical reference for clinical prenatal diagnosis and genetic counseling.Methods A retrospective analysis was conducted on the prenatal diagnosis results of 1,308 pregnant women who underwent amniotic fluid puncture due to high-risk Down syndrome screening at our hospital from 2020 to 2023.They were divided into different groups based on prenatal diagnosis indications:576 cases in the high-risk Down syndrome screening alone group,175 cases in the high-risk Down syndrome screening with advanced maternal age group,136 cases in the high-risk Down syndrome screening with a history of adverse pregnancy group,114 cases in the high-risk Down syndrome screening with ultrasonographic abnormalities group,63 cases in the high-risk Down syndrome screening with non-invasive prenatal testing(NIPT)abnormalities group,8 cases in the high-risk Down syndrome screening with one other indication group,and 236 cases in the high-risk Down syndrome screening with two or more indications group.The detection rates of chromosomal abnormalities in different prenatal diagnosis indication groups were compared.Results Among the 1,308 pregnant women with high-risk Down syndrome screening,176 cases of chromosomal abnormalities were detected.The most common were numerical abnormalities,primarily Down syndrome(Trisomy 21),with 104 cases(59.09%);followed by Edwards syndrome(Trisomy 18)with 26 cases(14.77%);structural abnormalities with 13 cases(7.39%);and mosaicism abnormalities with 16 cases(9.09%).The detection rate of abnormalities in the high-risk Down syndrome screening alone group was 3.65%(21/576),while it was 10.53%(12/114)in the high-risk Down syndrome screening with ultrasonographic abnormalities group,57.14%(36/63)in the high-risk Down syndrome screening with NIPT abnormalities group,and 38.14%(90/236)in the high-

关 键 词：唐氏筛查高风险 产前诊断 产前诊断指征 染色体异常检出率 产前筛查策略 

分 类 号：R596.1[医药卫生—内科学]