羊水细胞胎儿性染色体异常387例分析  

Genetic analysis of 387 cases of fetal sex chromosome abnormalities detected from amniotic fluid samples

作　　者：张亚南[1] 胡蓉[1] 方芳 贾政军[1] 彭莹 庞佳伦 胡建成[1] 杨舒亭 王华[1] Zhang Yanan;Hu Rong;Fang Fang;Jia Zhengjun;Peng Ying;Pang Jialun;Hu Jiancheng;Yang Shuting;Wang Hua(Department of Medical Genetics,Maternal and Child Health Hospital of Hunan Province(National Health Commission Key Laboratory of Birth Defect for Research and Prevention),Changsha 410008,China)

机构地区：[1]湖南省妇幼保健院医学遗传科,国家卫生健康委出生缺陷研究与预防重点实验室,长沙410008

出　　处：《中华围产医学杂志》2022年第7期545-549,共5页Chinese Journal of Perinatal Medicine

基　　金：湖南省卫生健康委员会科研课题(202105032220);湖南省自然科学基金面上项目(2020JJ4387)。

摘　　要：目的分析产前诊断羊水细胞中胎儿性染色体异常的构成情况。方法回顾2017年1月到2020年12月在湖南省妇幼保健院行孕中期羊膜腔穿刺术的12164例孕妇的临床资料,对其中确诊为性染色体异常胎儿的染色体核型和染色体微阵列分析等遗传学检测结果进行描述性统计分析。结果(1)在12164例孕妇中,检出387例(3.2%)胎儿性染色体异常,包括351例染色体核型异常和36例性染色体微缺失/微重复。(2)以无创产前检测性染色体高风险为指征的性染色体异常占比最高(74.2%,287/387),之后依次为其他超声异常(8.5%,33/387)、唐氏综合征筛查高风险(7.0%,27/387)、高龄(4.7%,18/387)、不良孕产史(3.3%,13/387)和颈项透明层增厚或颈部淋巴水囊瘤(2.3%,9/387)。(3)351例染色体核型异常包括数目异常(257例,73.2%)、嵌合体(66例,18.8%)和结构异常(28例,8.0%)。染色体数目异常以47,XXY[46.7%(120/257)]最多,嵌合体以45,X/46,XX[48.5%(32/66)]最多,结构异常以X染色体缺失[39.3%(11/28)]最多。36例性染色体微缺失/微重复中,15例(41.7%)为致病性,7例(19.4%)为良性,14例(38.9%)临床意义未明。15例致病性拷贝数变异的片段大小[M(min~max)]为1.68 Mb(0.37~9.20 Mb),其中14例为X染色体微缺失/微重复。9例微缺失中的7例为Xp22.31区域缺失。结论羊水性染色体异常主要为性染色体数目异常,另有部分为嵌合体和染色体结构异常。Objective To analyze fetal sex chromosome abnormalities in prenatal diagnosis based on amniotic fluid cell culture.Methods Clinical data of 12164 pregnant women who underwent amniocentesis in Maternal and Child Health Hospital of Hunan Province from January 2017 to December 2020 were retrospectively analyzed.For those diagnosed with fetal sex chromosome abnormalities,the results of karyotyping and chromosome microarray analysis(CMA)were analyzed and described.Results(1)Among the 12164 cases,fetal sex chromosome abnormalities were detected in 387 cases(3.2%),including 351 cases with abnormal sex chromosome karyotype and 36 with sex chromosome microdeletion/microduplication.(2)High-risk patients indicated by non-invasive prenatal test(NIPT)had the highest proportion of sex chromosomes abnormalities(74.2%,287/387),followed by those with other ultrasound abnormalities(8.5%,33/387),high risk of Down syndrome screening(7.0%,27/387),advanced maternal age(4.7%,18/387),history of adverse pregnant or delivery(3.3%,13/387),and nuchal translucency thickening or cervical lymphatic hygroma(2.3%,9/387).(3)Detected chromosome karyotype abnormalities included numerical abnormalities[73.2%(257/351)],mosaicism[18.8(66/351)],and structural abnormalities[8.0%(28/351)],among which,47,XXY[46.7%(120/257)],45,X/46,XX[48.5%(32/66)],and X chromosome deletion[39.3%(11/28)]were the most common,respectively.Among 36 sex chromosome microdeletions/microduplications cases,15(41.7%)were with pathogenic copy number variation(CNV),including 14 cases of X chromosome microdeletion/microduplication;7(19.4%)with benign CNV,and 14(38.9%)with CNV of unknown clinical significance.The fragment size[M(min-max)]of the 15 pathogenic CNV was 1.68 Mb(0.37-9.20 Mb).Of the nine cases with microdeletions,seven were found with deletion in the Xp22.31 region.Conclusions Numerical abnormalities are the most common fetal sex chromosome abnormalities detected from amniotic fluid samples.Others included mosaicism and chromosome structure abnormalities.

关 键 词：性染色体畸变 产前诊断 嵌合体 DNA拷贝数变异 

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