Turner综合征孕妇的产前指征与染色体核型及妊娠结局分析  

Analysis of Prenatal Indications,Chromosome Karyotype and Pregnancy outcome in Pregnant Women with Invasive Prenatal Diagnosis of Turner Syndrome

作　　者：娄欢 杨小风 郭婷婷 李怡梅 武明莉 刘芳 LOU Huan;YANG Xiao-feng;GUO Ting-ting;LI Yi-mei;WU Ming-li;LIU Fang(Department of Obstetrics and Gynecology,Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,Henan Province,China)

机构地区：[1]郑州大学附属郑州中心医院妇产科,河南郑州450000

出　　处：《中国CT和MRI杂志》2024年第11期118-120,共3页Chinese Journal of CT and MRI

摘　　要：目的分析介入性产前诊断Turner综合征(TS)孕妇的产前指征、染色体核型及妊娠结局,总结特征,为TS诊疗提供参考。方法收集2014年1月至2023年1月期间在我院围产保健并实施介入性产前诊断的孕妇资料进行回顾性分析,统计介入性产前诊断的诊断指征、染色体核型异常检出情况及TS检出情况,随访至分娩,统计TS病例妊娠结局。结果纳入实施介入性产前诊断孕妇1876例,染色体核型异常检出率为5.81%,TS检出率为1.33%(25例),TS病例表型以X单体最为典型,其他染色体核型异常主要为21三体综合征、18三体综合征、13三体综合征。染色体核型异常的介入性产前诊断指征以超声异常最为常见,其次分别为血清学筛查高风险、NIPT性染色体异常高风险、高龄孕妇和其他。TS病例中与非TS病例的各介入性产前诊断指征分布比较,差异无统计学意义(P>0.05)。TS病例超声异常指征中,X单体的NT增厚、淋巴水囊瘤占比高于非X单体,差异有统计学意义(P<0.05)。23例TS病例产妇随访至分娩,活产率为8.70%(2/23),X单体活产率与非X单体比较差异无统计学意义(P>0.05)。结论超声异常是染色核型异常最常见的介入性产前诊断指征。TS病例中X单体是最常见的染色体核型异常,其超声异常类型以NT增厚、淋巴水囊瘤最为常见,活产率较低。Objective To analyze the prenatal indications,karyotype and pregnancy outcome of pregnant women with invasive prenatal diagnosis of Turner syndrome(TS),to summarize the characteristics and provide reference for TS diagnosis and treatment.Methods The data of pregnant women who received interventional prenatal diagnosis in hospital from January 2014 to January 2023 were analyzed retrospectively.The diagnostic indications of interventional prenatal diagnosis,chromosome karyotype abnormality detection and TS detection were analyzed.Follow-up was performed until delivery,and pregnancy outcomes of TS cases were counted.Results In 1876 pregnant women with invasive prenatal diagnosis,and the detection rate of abnormal staining was 5.81%,and the detection rate of TS was 1.33%(25 cases).The phenotype of TS cases was most typical of X monomer,and other chromosome abnormalities were mainly trisomy 21 syndrome,trisomy 18 syndrome and trisomy 13 syndrome.The most common indications of interventional prenatal diagnosis of chromosomal abnormalities were ultrasound abnormalities,followed by high risk of serological screening,high risk of NIPT sex chromosome abnormalities,older pregnant women and others.There was no significant difference in the distribution of indications of interventional prenatal diagnosis between TS cases and non-TS cases(P>0.05).Among the ultrasonic abnormal indications of TS cases,the proportion of NT thickening and lymphatic hydrocystoma in X monomer was higher than that in non-X monomer,and the difference was statistically significant(P<0.05).The live birth rate of 23 patients with TS was 8.70%(2/23).There was no significant difference in the live birth rate between X monomer and non-X monomer(P>0.05).Conclusion Ultrasonic abnormality is the most common interventional prenatal diagnostic indication of abnormal staining.In TS cases,X monomer was the most common chromosomal abnormality,and the most common ultrasonic abnormality types were NT thickening and lymphatic hydrocystoma,with a low live birth rate.

关 键 词：TURNER综合征 介入性产前诊断 染色体畸变 

分 类 号：R729[医药卫生—儿科]