期刊文献+

染色体微阵列分析在单纯不良孕产史孕妇产前诊断中的应用 被引量:10

Chromosomal microarray analysis in prenatal diagnosis of women with isolated adverse pregnancy history
原文传递
导出
摘要 目的通过分析因单纯不良孕产史行产前诊断的孕妇染色体微阵列分析(chromosomal microarray analysis,CMA)异常检出情况,探讨CMA在单纯不良孕产史孕妇中应用的注意事项。方法2014年6月至2020年7月共有5563例孕妇在南京大学医学院附属鼓楼医院行CMA产前诊断,其中单纯因"不良孕产史"进行产前诊断的病例169例,纳入回顾性分析。根据先证者遗传学异常的类型和遗传来源及CMA预期检出情况,分为高风险组(19例,包括先证者为父母来源的病理性拷贝数变异11例,先证者为父母来源的染色体异常8例)、低风险组(113例,包括先证者全外显子测序和/或CMA未发现异常6例,先证者为明确的单基因病31例,新发致病性拷贝数变异47例,新发染色体异常29例)和风险不明组(先证者均未行遗传学检测,40例),总结各组的异常检出情况。采用描述性统计分析。结果169例孕妇(胎儿172例)中包括2例双胎妊娠孕妇和1例孕妇2次单胎妊娠。CMA共检出异常胎儿9例,占5.2%(9/172)。高风险组19例,检出异常8例,均与亲本遗传学异常相关;低风险组113例,仅检出1例22q11.22q11.23微重复,为arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3,属新发变异。风险不明组40例无异常检出。结论明确"不良孕产史"的病因,是合理应用CMA进行产前诊断的关键。单基因病、原因不明或先证者未发现CMA异常的情况并非CMA产前诊断的适应证。 Objective To investigate the abnormal results of chromosomal microarray analysis(CMA)in the subsequent pregnancy of women with adverse pregnancy history,and explore the applicability of CMA in women with different genetic etiology.Methods Out of 5563 pregnant women who received CMA test in Nanjing Drum Tower Hospital during June 2014 and July 2020,169 cases that underwent prenatal diagnosis due to isolated adverse pregnancy history were retrospectively collected in this study.All the participants were divided into three groups based on the etiology type of probands,genetic origin and expected CMA outcome:high-risk group(n=19,including 11 cases with inherited pathogenic copy number variations and eight cases with inherited chromosomal abnormalities),low-risk group(n=113,including six cases with negative whole exome sequencing and/or CMA findings,31 cases with confirmed monogenic disease,47 cases with de novo pathogenic copy number variations and 29 cases with de novo chromosomal abnormalities),and unknown risk group(n=40,none of the cases underwent genetic testing).Descriptive statistical analysis was used to summarize the abnormal detection of each group.Results There were 169 mothers with 172 fetuses finally enrolled,including two twins and one woman with two singleton pregnancies.A total of nine cases of abnormal fetuses were detected by CMA,accounting for 5.2%(9/172).Among them,eight were in the high-risk group,which were all caused by parental abnormalities,and one case in the low-risk group was detected with a de novo 22q11.22q11.23 microduplication,which was arr[GRCh37]22q11.22q11.23(22,997,928-25,002,659)×3.No abnormality was detected in the 40 patients of unknown risk group.Conclusions Clarifying the etiology of isolated adverse pregnancy history is crucial to the rational application of CMA.Monogenic disease,unknown cause or negative finding of CMA in probands may not be an indication for prenatal diagnosis of CMA.
作者 朱湘玉 刘威 顾雷雷 朱雨捷 曹培暄 吴星 杨滢 胡娅莉 李洁 Zhu Xiangyu;Liu Wei;Gu Leilei;Zhu Yujie;Cao Peixuan;Wu Xing;Yang Ying;Hu Yali;Li Jie(Department of Obstetrics and Gynecology,Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)
出处 《中华围产医学杂志》 CAS CSCD 北大核心 2021年第6期423-426,共4页 Chinese Journal of Perinatal Medicine
基金 江苏省青年医学人才项目(QNRC2016030) 江苏省妇幼健康重点学科(FXK201747)。
关键词 染色体畸变 微阵列分析 产前诊断 孕妇 Chromosome aberrations Microarray analysis Prenatal diagnosis Pregnant women
  • 相关文献

参考文献1

共引文献40

同被引文献89

引证文献10

二级引证文献13

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部