产前超声诊断胎儿中枢神经系统畸形特征及基因型分析  

Analysis of the prenatal ultrasound diagnostic characteristics and the genotypic analysis of fetus with central nervous system malformations

作　　者：胡李琪 袁洪亮 HU Liqi;YUAN Hongliang(Tongcheng People's Hospital of Xianning City,Hubei Province,437000;Union Hospital Affiliated to Tongji Medical College,Huazhong University of Science and Technology,Wuhan)

机构地区：[1]湖北省通城县人民医院,437000 [2]华中科技大学同济医学院附属协和医院

出　　处：《中国计划生育学杂志》2023年第8期1991-1994,1999,共5页Chinese Journal of Family Planning

摘　　要：目的:探究胎儿中枢神经系统(CNS)畸形的产前超声诊断和基因型分析的特点。方法:2019年1月-2022年8月本院产前诊断中心被确诊的胎儿CNS发育异常的妊娠妇女93例,收集其产前超声与胎儿染色体核型分析结果,分析不同妊娠期及不同畸形类型产前超声和异常染色体核型特点。结果:妊娠早期及中期超声检查均可较好地筛查胎儿CNS畸形,敏感性和特异性(90.3%、97.8%)(96.8%、100.0%)较高;但妊娠早期主要检出神经管缺陷,而妊娠中期基本可筛查出所有CNS畸形。胎儿CNS畸形可存在异常染色体核型,以13和18号染色体三体为主。结论:产前二维、三维、经阴道超声及染色体核型检查在筛查胎儿CNS畸形方面有较高临床价值,特别是在妊娠中期,能更好地为临床产前诊断及遗传咨询提供参考。Objective:To study the characteristics of Prenatal ultrasound diagnostic characteristics and the genotypic a-nalysis of fetus with central nervous system(CNS)malformations diagnosis.Methods:93 pregnant women diagnosed.with abnormal fetal CNS development confirmed by the Prenatal diagnosis center of the hospital from January 2019 to August 2022 were included in this study.The results of prenatal ultrasound examination of the fetus and the fetal kary-otype analysis were ollected,and the characteristics of the prenatal ultrasound and the chromosomal karyotype of the fetus with different gestational weeks and with different malformation types were analyzed.Results:Ultrasound exami-nation for the fetus can be used to better screen the fetal CNS malformation,with the sensitivity of 90.3%and the spe-cificity of 97.8%during the first trimester of pregnancy,and with the sensitivity of 96.8%and the speificity of 100.0%during the second trimester of pregnancy.However,the fetal neural tube defects were the mainly findings dur-ing the first trimester of pregnancy,and all the fetal CNS malformations could be found during the second trimester of pregnancy.The fetuses with CNS malformations might had abnormal chromosome karyotypes,mainly with trisomy 13 and 18.Conclusion:Prenatal examinations by two-dimensional,three dimensional,transvaginal ultrasound,and chro-mosomal karyotype analysis for the fetuses have high clinical values in fetal CNS malformations screening,especially during the second trimester of pregnancy,and which can provide references for the clinical prenatal diagnosis and ge netic counseling.

关 键 词：中枢神经系统畸形 产前筛查 不同孕期 超声检查 染色体核型 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]