101例胎儿性染色体非整倍体异常核型分布特征及妊娠结局分析  

Abnormal Karyotypes Distribution Characteristics and Pregnancy Outcomes of Fetal Sex Chromosome Aneuploidy in 101 Cases

作　　者：伍欣[1] 覃婷[1] 龙喜贵[1] 张红燕 苏林虹 张秀群 WU Xin;QIN Ting;LONG Xigui;ZHANG Hongyan;SU Linhong;ZHANG Xiuqun(Medical Genetics and Prenatal Diagnosis Center,Guangxi Zhuang Autonomous Region People’s Hospital,Nanning 530001,China)

机构地区：[1]广西壮族自治区人民医院医学遗传与产前诊断中心,南宁530001

出　　处：《现代检验医学杂志》2024年第4期40-44,62,共6页Journal of Modern Laboratory Medicine

基　　金：广西自然科学基金项目(2021GXNSFAA075027)。

摘　　要：目的分析101例胎儿性染色体非整倍体(sex chromosome aneuploidy,SCA)异常核型分布特征及妊娠结局。方法回顾性收集2016年1月~2021年12月7821例于广西壮族自治区人民医院成功进行产前核型诊断孕妇的临床资料,均行细胞培养染色体核型分析与拷贝数变异测序(copy number variation sequencing,CNV-seq)检测,对检出的101例SCA异常胎儿病历进行分析。结果SCA共检出101例,检出率为1.29%。其中克氏综合征占比33.66%,超雌综合征占比17.82%,超雄综合征占比12.87%,特纳综合征占比10.89%,其他非整倍体异常(包括:48,XXXY 1例,69,XXY[80%]/68,XXY,-22[20%]1例)占比1.98%,嵌合体占比22.77%。101例SCA产前指征结果为:年龄≥35周岁占比53.47%(54/101),血清生化指标筛查高/临界风险占比4.95%(5/101),胎儿超声检测异常占比17.82%(18/101),无创产前基因检测(non-invasive prenatal testing,NIPT)异常占比51.49%(52/101),不良孕产史占比12.87%(13/101),其他原因(孕妇脑瘫1例、双方珠蛋白生成障碍性贫血4例)5例行产前诊断,占比4.95%(5/101),部分病例并发多项产前诊断指征。23例诊断为性染色体嵌合体的胎儿,其中有22例通过核型与CNV-seq双向验证,11例孕妇选择终止妊娠,其余选择继续妊娠。结论产前核型诊断联合血清学检测、孕期超声等不同产前筛查手段,有利于提高SCA检出率。而CNV-seq可对性染色体嵌合体孕妇的遗传咨询提供更多临床依据。Objective To analyze the distribution characteristics of abnormal karyotypes of fetal sex chromosome aneuploidy(SCA)and pregnancy outcomes in 101 fetal cases.Methods A retrospective study was conducted among 7821 pregnant women who underwent successfully prenatal karyotyping diagnosis at Guangxi Zhuang Autonomous Region People’s Hospital from January 2016 to December 2021.All women received amniotic fluid cell culture karyotype analysis and copy number variation sequencing(CNV-seq)detection and 101 cases of SCA detected were analyzed.Results A total of 101 cases were detected by SCA,with a detection rate of 1.29%.Among them,Klinefelter syndrome accounted for 33.66%,superestrogenism syndrome accounted for 17.82%,superandrogenic syndrome accounted for 12.87%,turner syndrome accounted for 10.89%,other aneuploidy abnormalities[including 48,XXXY:1 case;69,XXY(80%)/68,XXY,-22(20%):1 case]accounted for 1.98%,and chimerism accounted for 22.77%.The prenatal indications for 101 cases of SCA were as follows:age≥35 years,high/critical risk of serum biochemical screening,fetal ultrasound abnormalities,abnormalities in non-invasive prenatal testing(NIPT),history of adverse pregnancy and childbirth and other reasons(1 case of cerebral palsy in pregnant women and 4 cases of bilateral thalassemia)accounted for 53.47%(54/101),4.95%(5/101),17.82%(18/101),51.49%(52/101),12.87%(13/101),4.95%(5/101),respectively.Partial cases had multiple prenatal diagnostic indications.Meanwhile,23 fetuses diagnosed with sex chromosome chimerism,of which 22 cases were validated by karyotype and CNV seq,11 pregnant women chose to terminate their pregnancy,with the rest chose to continue pregnancy.Conclusion The combination of prenatal karyotype diagnosis,serological testing,prenatal ultrasound and other prenatal screening methods can help improve the detection rate of SCA,while CNV-seq can provide more clinical evidence for genetic counseling of pregnant women with sex chromosome chimerism.

关 键 词：性染色体非整倍体 异常核型 妊娠结局 拷贝数变异测序 

分 类 号：R446.7[医药卫生—诊断学]