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早孕期流产胎儿绒毛组织的遗传学分析

Genetic testing of chorionic villi from abortuses during early pregnancy
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摘要 目的 应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术分析早孕期流产胎儿的染色体异常.方法 选取520份早孕期流产样本,应用SNP-array对胎儿绒毛组织进行全基因组的拷贝数分析.结果 对510份样本(98.1%)样本进行了成功的分析,其中异常结果占57.6%(294/510),未见异常占38.8%(198/510),良性拷贝数变异(copy number variations,CNVs)占2.4%(12/510),临床意义不明性CNV(variants of uncertain significance,VOUS)占1.2%(6/510).异常结果中非整倍体占75.2%(221/294),多倍体占13.9%(41/294),致病性CNV占8.2%(24/294),单亲二倍体占2.7%(8/294).非整倍体中以45,X最常见,其次为16-三体、22-三体,多倍体中以69,XXY最常见.结论 染色体异常是早孕期流产的主要原因,以非整倍体是最常见,高龄孕妇非整倍体的发生率明显升高.SNP-array具有分辨率高、成功率高、准确快速等优点,但对检出的微缺失/微重复的判读和解释为临床遗传咨询带来一定困难. Objective To explore the incidence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray(SNP-array).Methods For 520 abortuses,copy number variations(CNVs)in chorionic villi were analyzed with SNP-array.Results In 510(98.1%)of the samples,the analysis was successful.Among these,57.6%(294/510)samples were found to harbor clinically significant chromosomal abnormalities.38.8%of samples(198/510)had a normal result.2.4%(12/510)harbored benign CNVs,and 1.2%(6/510)harbored variants of uncertain significance(VOUS).Aneuploidy,polyploidy,pathogenic CNVs and uniparental disomy(UPD)had accounted for 75.2%(221/294),13.9%(41/294),8.2%(24/294),and 2.7%(8/294),respectively.45,XO was the most common finding,which was followed by trisomy 16 and trisomy 22.69,XXY was the most common polyploidy.Conclusion Chromosomal abnormalities are the main cause for early miscarriage,among which aneuploidies are most common.The incidence of aneuploidies has significantly increased among women over 35-year-old.SNP-array analysis has the advantage of high success rate,high resolution and great accuracy,but the clinical significance of microdeletions/microduplications found by SNP-array may be difficult to interpret.
作者 杨宇霞 屈素真 王莉 郭依琳 薛淑文 蔡奥捷 崔思颖 孔祥东 Yang Yuxia;Qu Suzhen;Wang Li;Guo Yilin;Xue Shuwen;Cai Aojie;Cui Siying;Kong Xiangdong(Center for Genetics and Prenatal Diagnosis,the First Affiliated Henan 450000.China)
出处 《中华医学遗传学杂志》 CAS CSCD 2019年第6期547-551,共5页 Chinese Journal of Medical Genetics
基金 国家重点研发项目计划(2018YFC1002203).
关键词 单核苷酸多态性芯片 流产物 染色体异常 非整倍体 Microarray Single nucleotide polymorphism Miscarriage Chromosomal abnormality Aneuploidy
作者简介 通信作者:孔祥东,Email:kongxd@263.net
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