125例产前性染色体非整倍体胎儿的临床特征和妊娠选择  

Clinical Phenotypes and prenatal decision of 125 cases Sex chromosomal aneuploidies

作　　者：罗小金[1] 丛潇怡 刘效伊 陈婧 胡亮[1] 李高驰[1] 裴元元[1] 冉健[1] 温丽娟[1] 魏凤香[1,2] LUO Xiaojin;CONG Xiaoyi;LIU Xiaoyi;CHEN Jing;HU Liang;LI Gaochi;PEI Yuanyuan;RAN Jian;WEN Lijuan;WEI Fengxiang(Longgang District Maternity&Child Heathcare Hospital of Shenzhen City,Shenzhen 518172,China)

机构地区：[1]广东省深圳市龙岗区妇幼保健院产前诊断中心,广东深圳518172 [2]遵义医科大学基础医学院病原生物学教研室,贵州遵义563006

出　　处：《实用医学杂志》2020年第15期2083-2087,共5页The Journal of Practical Medicine

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

摘　　要：目的分析产前性染色体非整倍体(sex chromosome aneuploidy,SCA)胎儿的产前指征、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 2016年1月至2019年12月因政府公共卫生项目加生育保险为在我院建档的孕早中期孕妇免费提供NIPT检测,筛查结果为SCA高风险者行产前诊断确诊为SCA的125病例进行回顾性分析。结果 125例SCA分别为21例45,X、41例47,XXY、27例47,XXX、30例47,XYY和6例嵌合体。125例SCA中18例(12例45,X、2例47,XXY、1例47,XXX、1例47,XYY和2例嵌合体)产前诊断前或后检出超声异常。125例SCA中66例(52.8%)选择了终止妊娠(17例45,X、32例47,XXY、8例47,XXX、7例47,XYY和2例嵌合体),59例(47.2%)选择继续妊娠的SCA病例中,跟踪随访发现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,41例已生育表型正常儿。结论 NIPT作为一线产前筛查方案相较于当前普遍作为二线方案更能筛检出大量以往漏筛的SCA病例,SCA病例主要来自产前指征为低风险孕妇。45,X相较于其他类型SCA病例在产检前或后更易检出超声异常特征。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。因不同类型的SCA其临床表型差异化比较大,SCA的妊娠选择主要由SCA的类型、超声结果、孕妇年龄等因素决定。Objective To analyze the distribution of indications,karyotyping results,ultrasound findings,pregnancy decisions and follow up of chromosome aneuploidy(SCA),and explore the relevant factors of prenatal decision-making with SCA fetal.Methods All SCA cases were reviewed and analyzed in Prenatal Diagnosis Center of Longgang District Maternity and Child Healthcare Hospital from January 2016 to December2019.Results There were 21 cases of 45,X,41 cases of 47,XXY,27 cases of 47,XXX,30 cases of 47,XYY,and six cases of mosaic among the 125 cases of SCA.66 out of 125 cases(52.8%) chose to terminate the pregnancy,which included 17 cases of 45,X,32 cases of 47,XX Y,8 cases of 47,XXX,7 cases of 47,XYY and two cases of mosaic,respectively).59 out of 125 cases chose to continue pregnancy,and further follow-up showed that 3 of them(2 cases 45,X and 1 case 47,XXX) chose to terminate the pregnancy due to abnormal ultrasound,2 of them(1 case 45,X and 1 case 47,XXY) had spontaneous abortion during pregnancy,and 41 cases had normal fertility.Conclusions NIPT as a first-tier screening method can effectively screen trisomy 21,13,18 as well as SCA.A significant correlation was found between the termination of SCA-affected pregnancy and the presence of fetal ultrasound abnormalities,type of SCA,maternal age,and presence of infertility.

关 键 词：无创产前筛查 产前诊断 核型分析 性染色体非整倍体 妊娠选择 

分 类 号：R714.55[医药卫生—妇产科学]