Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing
Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing
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DOI：
10.1002/pd.4782
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发表时间：
2016-04-01
影响因子：
3
通讯作者：
Hu, Yali
中科院分区：
文献类型：
--
作者：
Zhu, Xiangyu;Li, Jie;Hu, Yali
目的应用染色体微阵列分析（CMA）技术检测先天性心脏病（CHD）胎儿染色体异常的类型和频率，并验证新一代测序技术作为CHD诊断方法的可行性。结果115例先天性心脏病胎儿中21例（18.3%）存在致病性染色体异常。在73例胎儿中的6例（8.2%）中，CMA确定了2例DiGeorge综合征，1例1q21.1微缺失，1例16p11.2微缺失和Angelman/Prader Willi综合征，以及1例22q11.21微重复综合征。在42例CHD和其他结构异常的胎儿中，12例（28.6%），CMA鉴定出8例完全或部分三体（19.0%），5例与DiGeorge、Wolf-Hirschhorn、Miller-Dieker、Cri du Chat和睑裂狭小、上睑下垂和内眦赘皮综合征相关的CNV（11.9%），以及4例其他罕见致病性CNV（9.5%）。总的来说，CMA和CNV-Seq检测所有21个致病性染色体异常与CHD.ConclusionCMA和CNV-Seq是一个100%的诊断一致性之间是可靠的，准确的产前技术，用于识别致病性胎儿染色体异常与心脏缺陷。(c)2016约翰威利父子有限公司
ObjectiveTo determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method.MethodChromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq).ResultOverall, 21 of 115 CHD fetuses (18.3%) referred for CMA had a pathogenic chromosomal anomaly. In six of 73 fetuses (8.2%) with an isolated CHD, CMA identified two cases of DiGeorge syndrome, and one case each of 1q21.1 microdeletion, 16p11.2 microdeletion and Angelman/Prader Willi syndromes, and 22q11.21 microduplication syndrome. In 12 of 42 fetuses (28.6%) with CHD and additional structural abnormalities, CMA identified eight whole or partial trisomies (19.0%), five CNVs (11.9%) associated with DiGeorge, Wolf-Hirschhorn, Miller-Dieker, Cri du Chat and Blepharophimosis, Ptosis, and Epicanthus Inversus syndromes and four other rare pathogenic CNVs (9.5%). Overall, there was a 100% diagnostic concordance between CMA and CNV-Seq for detecting all 21 pathogenic chromosomal abnormalities associated with CHD.ConclusionCMA and CNV-Seq are reliable and accurate prenatal techniques for identifying pathogenic fetal chromosomal abnormalities associated with cardiac defects. (c) 2016 John Wiley & Sons, Ltd.