绒毛取样未培养法用于胎儿染色体核型分析:438例回顾性分析  

Uncultured chorionic villus samples for fetal chromosome karyotype analysis:a retrospective analysis of 438 cases

作　　者：常颖[1,2] 赵晓敏 李姗姗[2] 李雯 申永梅 张蕾 陈叙[1,2] Chang Ying;Zhao Xiaomin;Li Shanshan;Li Wen;Shen Yongmei;Zhang Lei;Chen Xu(Prenatal Diagnosis Center,Tianjin Center Hospital of Gynecology and Obstetrics,Tianjin 300100,China;Tianjin Key Laboratory of Human Development and Reproductive Regulation,Tianjin 300100,China)

机构地区：[1]天津市中心妇产科医院产前诊断中心,300100 [2]天津市人类发育与生殖调控重点实验室,300100

出　　处：《中华围产医学杂志》2021年第5期382-386,共5页Chinese Journal of Perinatal Medicine

基　　金：天津市重大疾病防治科技重大专项(18ZXDBSY00230)。

摘　　要：目的分析未培养法检测绒毛染色体核型时染色体嵌合的检出情况。方法回顾性分析2016年1月至2019年1月在天津市中心妇产科医院产前诊断中心行绒毛取样,用未培养法进行胎儿染色体核型分析的单胎孕妇的临床资料。对检出染色体嵌合者,通过羊膜腔穿刺进行补充分析。分析这些孕妇的产前诊断指征、妊娠结局,以及染色体嵌合的检出及后续诊断和结局。对数据资料采用描述性统计分析。结果(1)共纳入438例孕妇,颈项透明层增厚(56.6%,248/438)是主要的产前诊断指征。(2)438例中,336例(76.7%)足月分娩,其中327例无母婴合并症;28例(6.4%)早产。1例(0.2%)穿刺1周内发生胎膜早破,8例(1.8%)穿刺1周后至孕28周发生流产或胎死宫内。这9例中的4例为染色体异常,5例染色体核型正常。65例(14.8%)选择性终止妊娠。(3)共发现12例(2.7%)染色体嵌合病例,均经羊膜腔穿刺核型分析验证,其中4例为局限性胎盘嵌合,6例绒毛染色体核型与羊水核型均为染色体核型异常,1例为真正胎儿嵌合,1例为假阳性。3例妊娠至足月分娩,1例早产分娩,8例引产(21-三体及超声发现结构异常各3例,以及胎儿生长受限和孕妇自行选择引产各1例)。结论未培养法绒毛染色体核型分析存在一定的嵌合比例。应结合羊膜腔穿刺进一步明确诊断,并进行详细、系统的超声评估。Objective To understand the possible detected mosaicism chromosome karyotyping using uncultured chorionic villus samples.Methods This study retrospectively analyzed the clinical data of singleton pregnant women who underwent fetal chromosome karyotyping of uncultured chorionic villus samples at the Prenatal Diagnosis Center of Tianjin Central Hospital of Gynecology and Obstetrics from January 2016 to January 2019.Prenatal diagnosis indicators,fetal karyotypes,the incidence of chromosomal mosaicism and subsequent diagnosis,and perinatal outcomes were analyzed.Amniocentesis was performed when chromosomal mosaicism was identified.Descriptive statistical analysis was used for data analysis.Results(1)A total of 438 pregnant women with available follow-up data were enrolled.Increased nuchal translucency(56.6%,248/438)was the major indication for prenatal diagnosis.The karyotype analysis indicated that 79.5%(348/438)were normal,and 2.7%(12/428)were mosaicism.(2)Of the 438 cases,336 cases(76.7%)were delivered at term,of which 327 cases were uncomplicated.There was one case of premature rupture of membranes within one week after amniocentesis and eight cases of abortion/fetal death between one week after the amniocentesis and 28 weeks of gestation.Of these nine cases,four had chromosomal abnormalities,and five had normal karyotypes.Termination of pregnancy was selected in 65 cases(14.8%)and 28 cases(6.4%)delivered before term.(3)Among the 12(2.7%)cases of chromosomal mosaicism verified by fetal karyotyping through amniocentesis,four were confined placental mosaicism;six were abnormal chromosomal karyotypes in chorionic villous and amniotic fluid;one was true fetal mosaicism;one was a false positive.Among the 12 cases,three continued to term,one was preterm delivered,and eight selected labor induction,including three cases each of trisomy-21 and ultrasonographic structure abnormalities,and one case each of fetal growth restriction and labor induction based on patient preference.Conclusions Karyotype analysis of uncultured

关 键 词：绒毛膜绒毛取样 核型分析 镶嵌现象 胎盘 胎儿 回顾性研究 

分 类 号：R714.5[医药卫生—妇产科学]