146例非免疫性水肿胎儿的产前染色体分析  

Application of chromosomal analysis for 146 cases of fetuses with non-immune fetal hydrops

作　　者：侯磊[1] 王小新[1] 李介岩[1] 刘丽恒[1] 张为远[1] 王欣[1] Hou Lei;Wang Xiaoxin;Li Jieyan(Department of Obstetrics,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing 100026)

机构地区：[1]首都医科大学附属北京妇产医院产科,北京100026

出　　处：《现代妇产科进展》2021年第5期346-349,共4页Progress in Obstetrics and Gynecology

摘　　要：目的:分析非免疫性水肿胎儿的产前诊断结果,明确其染色体异常的类型。方法:选取146例非免疫性水肿胎儿,通过经腹绒毛取样、羊膜腔穿刺、脐静脉穿刺及流产后取胎儿组织送检的方法进行胎儿染色体核型及低覆盖度大规模平行测序技术(CNV-seq)的分析。结果:146例胎儿的染色体异常发生率为48.6%(71/146),其中性染色体异常29例,21-三体19例,18三体13例,13-三体3例,其他染色体异常1例,致病性拷贝数变异6例。染色体异常检出率随着孕周的增加而降低,<14孕周、14~27孕周、≥28孕周孕妇的染色体异常检出率分别为68.4%(39/57)、40.8%(31/76)和7.7%(1/13)。水肿胎儿最常合并的超声结构异常依次为NT/NF增厚、颈部水囊瘤及心脏异常,其染色体异常检出率分别为59.5%、59.2%及51.9%。结论:染色体异常是胎儿水肿的常见病因,特别是早中孕期出现水肿的胎儿,检出率较高。对于水肿胎儿的产前诊断,除了常规的核型以外,需重视拷贝数变异的检测。Objective:To explore the chromosomal analysis for fetuses with hydrops.Methods:146 pregnancies diagnosed as non-immune fetal hydrops were collected,which underwent prenatal diagnosis,including chorionic villi(CV),amniotic fluid,cordocentesis or fetal tissue after stillbirth,the indication of the procedures and results were evaluated by fetal karyotype and CNV sequencing.Result:48.6%(71/146)of chromosome abnormities were diagnosed with fetal hydrops,including 29 with X chromosome aneuploidy,19 with trisomy 21,13 with trisomy 18,3 with trisomy 13,one with other chromosome aneuploidy and 6 with pathogenic copy number variants(CNVs)respectively.There were more chromosome abnormities diagnosed in the fetus of the first trimester than those of the second and third trimester(<14 weeks 68.4%,14~27 weeks 40.8%,≥28 weeks 7.7%).The most common ultrasound decfection combined with hydrops were thick NT/NF,lymphatic hygroma and heart defection,the incidence of chromosome abnormities were 59.5%、59.2%and 51.9%respectively.Conclusion:The incidence of chromosomal abnormalities in fetus hydrops is high and prenatal diagnosis is recommended for the patients.Fetal chromosome analysis through CNVs should be offered in all cases of non-immune fetal hydrops.

关 键 词：水肿 产前诊断 拷贝数变异 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]