76例性染色体非整倍体胎儿的产前诊断指征及妊娠结局分析  

Analysis of the prenatal diagnosis indications and pregnancy outcomes of 76 fetuses with sex chromosome aneuploidy

作　　者：杨会欣 魏淑彦 文晓燕 YANG Huixin;WEI Shuyan;WEN Xiaoyan(Shijiazhuang Maternal and Child Health Care Hospital,Shijiazhuang,Hebei Province,050000)

机构地区：[1]河北省石家庄市妇幼保健院,050000

出　　处：《中国计划生育学杂志》2024年第7期1698-1702,1706,共6页Chinese Journal of Family Planning

基　　金：河北省医学科学研究课题计划(20221656)。

摘　　要：目的:分析性染色体非整倍体(SCA)核型分布、妊娠结局及出生后表型。方法:选取2011年7月-2022年4月于石家庄市妇幼保健院行羊水穿刺的孕妇11 063例,产前诊断指征为高龄、血清学筛查胎儿染色体异常高风险、胎儿游离DNA无创产前筛查(NIPT)高风险、产前B超检查异常、不良孕产史,分析其羊水染色体核型及产前诊断指征,随访SCA胎儿妊娠结局及出生后表型。结果:共检出SCA胎儿76例,检出率为0.7%。其中47,XXY占21.0%;47,XXX占14.5%;47,XYY占9.2%;45,X占7.9%;48,XXYY占1.3%;嵌合体占46.0%。76例SCA胎儿中,2例失访,17例(22.4%)继续妊娠;57例(75.0%)终止妊娠,包括16例47,XXY;5例47,XXX;5例47,XYY;6例45,X;1例48,XXYY及24例嵌合体,终止妊娠率分别为100%、45.5%、71.4%、100%、100%和68.6%。最常见的产前诊断指征是血清学筛查高风险(31.6%)和NIPT高风险(29.0%)。17例SCA胎儿生后随访发现,1例47,XXX患儿随访至4岁4个月,存在语言及智力发育迟缓伴癫痫发作;1例47,XYY患儿随访至1岁2个月,存在隐匿性阴茎;其余15例SCA患儿体格发育、语言发育、认知、生理结构及行为均未见异常。结论:SCA胎儿检出率为0.7%,常见的产前诊断指征为中孕期血清学筛查及NIPT高风险,血清学筛查和NIPT联合羊水染色体核型分析有助于SCA胎儿的检出;47,XXY和45,X终止妊娠率较高;47,XXX和SCA嵌合体胎儿,大部分出生后表型正常。Objective:To analyze the karyotype distribution,pregnancy outcomes,and postnatal phenotype of fetuses with sex chromosome aneuploidy(SCA).Methods:A total of 11063 pregnant women who underwent amniocentesis for prenatal diagnosis in the hospital from July 2011 to April 2022 were enrolled in this study.The prenatal diagnostic indications of these women included the advanced age,the high risk of the fetal chromosomal abnormalities through serological screening,the high risk of the fetal free DNA by non-invasive prenatal testing(NIPT),the abnormal results of the prenatal ultrasound examination and the history of adverse pregnancy and childbirth.The chromosome karyotype of the fetal cells in amniotic fluid and the prenatal diagnostic indications of the women were analyzed,then the pregnancy outcomes and the postnatal phenotype of the fetuses with SCA were followed up.Results:A total of 76 fetuses with SCA were found,with a detection rate of 0.7%.Among the SCA,47,XXY accounted for 21.0%,47,XXX accounted for 14.5%,47,XYY accounted for 9.2%,45,X accounted for 7.9%,48,XXYY accounted for 1.3% and chimerism accounted for 46.0.%.Among 76 women had the fetuses with SCA,2 cases were lost to follow-up,and 17(22.4%) cases continued to conceive.There were 57(75.0%) women with the terminated pregnancy,including 16 cases with the fetal 47,XXY,5 cases with the fetal 47,XXX,5 cases with the fetal 47,XYY,6 cases with the fetal 45,X,1 case with the fetal 48,XXYY and 24 cases with the fetal chimerism,and the terminated pregnancy rates of which were100%,45.5%,71.4%,100%,100%,and 68.6%,respectively.The most common indications of the prenatal diagnosis for the high-risk fetuses were the abnormal results of serological screening(31.6%) and NIPT of fetal free DNA(29.0%).The follow-up of 17 fetuses with SCA after birth were conducted,1 infant with 47,XXX was followed up to4 years and 4 months old and its delayed language and intellectual development accompanied by epileptic seizures was found.1 infant with 47,XYY was followed up to 1 year and

关 键 词：产前诊断 核型分析 非整倍体 性染色体畸变 妊娠结局 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]