一线无创筛查53634例单胎性染色体非整倍体胎儿的产前诊断和妊娠选择  

Clinical Phenotypes and pregnancy decisions of sex chromosomal aneuploidies by NIPT from 53,634 unselected singleton pregnancies

作　　者：魏凤香[1] 罗小金[1] 胡亮[1] 温丽娟[1] 刘金星 刘效依 陈婧 杨洁霞 尹爱华 陈争 WEI Feng-xiang;LUO Xiao-jin;HU Liang;WEN Li-juan;LIU Jin-xing;LIU Xiao-yi;CHEN Jing;YANG Jie-xia;YIN Ai-hua;CHEN Zheng(Longgang District maternity&Child Heath care Hospital of Shenzhen City,Shenzhen 518172,China)

机构地区：[1]深圳市龙岗区妇幼保健院,深圳市龙岗出生缺陷预防重点实验室,518100

出　　处：《妇产与遗传（电子版）》2020年第1期19-25,共7页Obstetrics-Gynecology and Genetics (Electronic Edition)

基　　金：广东省医学科学技术研究基金项目(A2017359)。

摘　　要：目的探讨无创产前检测(non-invasive prenatal testing,NIPT)作为一线产前筛查方案在筛查性染色体非整倍体(sex chromosome aneuploidy,SCA)胎儿的临床应用价值,并评估SCA胎儿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2020年2月依托政府公共卫生项目,为生育保险在深圳市龙岗区妇幼保健院建档的53634例单胎孕早中期孕妇提供免费NIPT检测,对产前诊断确诊为SCA的病例的妊娠指征、核型结果、超声表现、妊娠选择以及跟踪随访进行回顾性分析。结果53634例单胎中筛查出136例(0.25%,136/53634)SCA胎儿,妊娠指征分布为低风险妊娠58例(42.6%)、高龄孕妇41例(30.1%)、唐筛高风险9例(6.6%)、唐筛临界风险16例(11.8%)、超声异常(含NT增高)12例(8.8%)。136例SCA分别为22例45,X、45例47,XXY、29例47,XXX、33例47,XYY和7例嵌合体。136例SCA中21例(14例45,X、3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。136例SCA中72例(52.9%)选择了终止妊娠(19例45,X、35例47,XXY、7例47,XXX、8例47,XYY和3例嵌合体),64例(47.1%)选择继续妊娠的SCA病例跟踪随访发现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,46例已生育表型正常儿、8例失访和5例仍在正常妊娠中。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来说,在有效地全面筛查21、18和13三体的同时筛检出大量以往漏筛的SCA病例,SCA病例主要来自妊娠指征为低风险孕妇。45,X相较于其他类型SCA病例在孕期更易检出超声异常特征。染色体核型为45,X和47,XXY的孕妇相较于47,XXX和47,XYY的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的妊娠选择主要依据SCA的类型、超声结果、孕妇年龄等因素综合考虑。Objective To explore the clinical value of non-invasive prenatal testing(NIPT)as a first-tier screening method for sex chromosome aneuploidy(SCA),evaluate the relevant factors of prenatal decision-making with SCA fetal.Methods 53,634 single-pregnancy women in the first and second trimester who filed in the in Prenatal Diagnosis Center of Longgang district Maternity and Child healthcare hospital due to government public health project and maternity insurance were provided free NIPT screening from January 2016 to February 2020.The distribution of indications,karyotyping results,ultrasound findings,pregnancy decisions and follow up of cases diagnosed as SCA by prenatal diagnosis were reviewed and analyzed.Results There were 136 cases of SCA among 53,634 cases(0.25%,136/53634).The distribution of indications included low-risk pregnancy(58,42.6%),advanced maternal age(41,30.1%),high risk of Down’s screening(9,6.6%),intermediate risk of down screening(16,11.8%),ultrasound findings included increased nuchal translucency(12,8.8%).The karyotypes of 136 SCA were 22 cases of 45,X,45 case of 47,XXY,29 case of 47,XXX,33 case of 47,XYY and 7 cases of mosaic,and 21 cases(14 case of 45,X,3 case of 47,XXY,1 case of 47,XXX,1 case of 47,XYY and 2 case of mosaic)were detected ultrasound abnormalities before or after prenatal diagnosis.Among 136 cases,72 cases(52.9%)were chose to termination(19 cases were 45,X,35 cases were 47,XXY,7 cases were 47,XXX and 8 cases were 47,XYY and 3 cases were mosaic,respectively),64 cases(47.1%)were elected to continue pregnancy.The 64 cases which elected to continue pregnancy were follow-up and founded among which 3 cases(2 cases were 45,X and 1 case was 47,XXX)chose to termination because of ultrasound abnormalities,2 cases(1 was 45,X and 1 was 47,XXY)suffered spontaneous abortion,46 cases gave birth to normal phenotype children,8cases lost followup and 5 cases still in pregnancy.Conclusions NIPT as a first-tier screening method can effectively screen trisomy 21,13,18 as well as SCA.SCA cases mainl

关 键 词：性染色体非整倍体 产前诊断 妊娠选择 

分 类 号：R714.5[医药卫生—妇产科学] R394[医药卫生—临床医学]