Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2024-01-30 DOI:10.1186/s13039-023-00668-8

Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang, Jianming Peng

引用次数: 0

Abstract

Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750 K array analysis. We evaluated both chromosome G-banding karyotyping data and CMA results from 2007 cases subjected to amniocentesis. The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abnormal phenotype based on imprinted gene expression. The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprinting diseases.

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用于单亲裂殖症产前诊断的染色体微阵列分析：一项回顾性研究

染色体微阵列分析（CMA）是产前诊断中检测染色体单亲断裂（UPD）的重要工具。这项回顾性研究通过 Affymetrix CytoScan 750 K 阵列分析，对接受侵入性产前诊断的胎儿进行了研究。我们评估了 2007 例羊膜腔穿刺病例的染色体 G 带核型数据和 CMA 结果。同源性区域（ROH）≥ 10 Mb 的检出率为 1.8%（33/2007），其中以 11 号染色体最为常见（17.1%，6/33）。根据印记基因的表达，UPD 预测异常表型的病例有 3 例。CMA结合UPD检测为产前基因诊断提供了一种更精确的方法。事实证明，CMA 能有效识别 ROH 并防止受印记疾病影响的患儿出生。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.