孕早中期性染色体非整倍体胎儿的临床特征和产前诊断分析  

Clinical characteristics and prenatal diagnosis of fetuses with sex chromosomal aneuploidies detected by non-invasive prenatal testing during early and midterm pregnancies

作　　者：罗小金[1] 郭岩芸 魏凤香[1] 胡亮[1] 裴元元[1] 丛潇怡 刘效伊 陈婧 李高驰[1] 陈汉彪 郭莉 陈争 Luo Xiaojin;Guo Yanyun;Wei Fengxiang;Hu Liang;Pei Yuanyuan;Cong Xiaoyi;Liu Xiaoyi;Chen Jing;Li Gaochi;Chen Hanbiao;Guo Li;Chen Zheng(Longgang District Maternity and Child Health Care Hospital,Shenzhen,Guangdong 518172,China;Longgang District People’s Hospital,Shenzhen,Guangdong 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院,518172 [2]深圳市龙岗区人民医院,518172

出　　处：《中华医学遗传学杂志》2021年第4期321-324,共4页Chinese Journal of Medical Genetics

基　　金：广东省医学科学技术研究基金(A2017359);深圳市科技计划项目(JCYJ20180305125647151);深圳市龙岗出生缺陷预防重点实验室项目(LGKCZSYS2018000010)。

摘　　要：目的通过分析产前性染色体非整倍体(sex chromosome aneuploidy,SCA)胎儿的产前诊断指征、核型结果、超声表现、妊娠选择以及跟踪随访,探讨SCA的产前临床特征及影响其妊娠选择的相关因素。方法对2015年1月至2020年2月在本院进行无创产前筛查(non-invasive prenatal testing,NIPT)的孕早中期孕妇并经产前诊断确诊的225例SCA患者进行回顾性分析。结果225例SCA中,37例45,X、74例47,XXY、50例47,XXX、56例47,XYY和8例嵌合体;33例(24例45,X、3例47,XXY、1例47,XXX、2例47,XYY和3例嵌合体)产前诊断前或后检出胎儿超声异常;121例(53.8%)选择了终止妊娠(31例45,X、61例47,XXY、14例47,XXX、12例47,XYY和3例嵌合体),104例(46.2%)选择继续妊娠的病例中3例(2例45,X和1例47,XXX)因超声异常选择终止妊娠、2例(1例45,X和1例47,XXY)孕期自发流产。结论NIPT能有效筛检出SCA病例,SCA病例主要来自产前诊断指征为低风险孕妇。45,X相较于其他类型SCA病例在产检前或后表现超声异常特征。妊娠45,X和47,XXY相较于47,XXX和47,XYY孕妇更倾向于选择终止妊娠。SCA的类型和超声结果是影响孕妇妊娠选择的主要因素。Objective To analyze the indication,karyotyping result,ultrasound finding,pregnancy decision and follow-up of fetuses with sex chromosome aneuploidies(SCA)detected by non-invasive prenatal testing(NIPT)during early and midterm pregnancies.Methods The results of 225 singleton pregnancies with fetal SCA detected by NIPT were reviewed and analyzed.Results The 225 cases included 45,X(n=37),47,XXY(n=74),47,XXX(n=50),47,XYY(n=56)and mosaicisms(n=8),among which 121(53.8%)have opted to terminate the pregnancy,including 45,X(n=31),47,XXY(n=61),47,XXX(n=14),47,XYY(n=12)and 3 mosaicisms.The remainder 104(46.2%)elected to continue with the pregnancy,among which three have opted to terminate due to abnormalities detected by ultrasonography,and two had spontaneous abortions.Conclusion NIPT as a first-tier screening method can effectively detect fetal trisomies 21,13 and 18 as well as SCA.The types of fetal SCA and presence of ultrasound abnormalities are critical factors for the termination of pregnancy.

关 键 词：性染色体非整倍体 产前诊断 核型分析 超声发现 妊娠选择 

分 类 号：R714.5[医药卫生—妇产科学]