性染色体异常的产前诊断指征及妊娠结局分析

Analysis of prenatal diagnosis indications and pregnancy outcomes of sex chromosome abnormality

目的探讨产前诊断性染色体非整倍体(SCA)异常的指征及其妊娠结局。方法回顾性分析2010年至2017年间广州市妇女儿童医疗中心所有进行介入性产前诊断核型分析的病例,收集母体特征与妊娠结局等资料,分析比较产前诊断指征与性染色体异常的关系、超声异常与妊娠结局的关系等。结果研究期间共21 145例产前诊断病例进行了核型分析,其中20 299例(96.0%)培养成功。共发现1 623例(8.0%)核型异常,其中SCA 242例(1.5%)。45,X是最常见的SCA,共88例(36.3%),其他依次为47,XXY、嵌合体、47,XYY、47,XXX。无创产前筛查异常是最常见的产前诊断指征,共73例(30.2%),其他依次为胎儿淋巴水囊瘤、唐氏筛查高风险、NT增厚等。242例SCA胎儿中,235例(97.1%)随访成功,其中189例(80.4%)选择终止妊娠,46例(19.6%)分娩。47,XYY最容易被家庭接受(50%),45,X接受率最低(1.1%),差异有统计学意义(χ^2=43.2,P<0.05)。合并超声结构异常的SCA胎儿终止妊娠率(100.0%)明显高于超声结构正常的SCA胎儿(77.6%),χ^2=88.3,P<0.05。结论当早中孕期筛查异常时,应考虑到SCA的可能。产前发现SCA异常,应进行专业遗传咨询,决定胎儿去留。

Objective To ascertain main indications of sex chromosome aneuploidies(SCA)for prenatal diagnosis and to investigate pregnancy outcomes of these diseases.Methods The clinical data of the women who received invasive prenatal karyotyping in Guangzhou Women and Children's Medical Center from 2010to 2017were analyzed retrospectively.The information regarding maternal characteristics and pregnancy outcomes were obtained.The relationships between prenatal diagnosis indication and sex chromosome abnormality and between ultrasonographic abnormality and pregnancy outcome were analyzed.Results A total of 21145 pregnant women received karyotyping over the study period,of them 20299(96%)were available.Karyotype abnormalities were found in 1623(8%)cases,of which,SCA was identified in 242cases(1.5%).45,X was the commonest SCA(88cases,36.3%),followed by 47,XXY(58cases,24.0%),sex chromosome mosaicism(56cases,23.1%),47,XYY(22cases,9.1%)and 47,XXX(18cases,7.4%).The most common prenatal diagnosis indication was noninvasive prenatal testing(NIPT)index abnormality(73 cases,30.2%),followed by ultasonographic fetal lymphohydroma(58cases,24%),high risk in Downs screening(53cases,21.9%)and ultrasonographic fetal thickened NT(26cases,10.7%)etc..Of 242cases of SCA,235cases were followed up successfully,of them 189pregnant women(80.4%)selected to terminate their pregnancy and 46(19.6%)pregnant women delivered.Sex chromosome abnormality 47,XYY was most easily accepted by the family,and 45,X had the poorest family acceptance,there was a significant difference(χ^2=43.2,P<0.05).The termination rate of pregnancy in the pregnant women who had a SCA fetus with ultrasonographic structural abnormalities(100.0%)was significantly higher than that in those pregnant women who had a SCA fetus with normal ultrasonographic findings(77.6%)(χ^2=88.3,P<0.05).Conclusion If a pregnant woman has abnormal prenatal screening result in the first or second trimester,the diagnosis of SCA must be taken into consideration.Professional genetic counseling should be carried out to determine termination or ongoing of the pregnancy.