用于单亲二体产前诊断的染色体微阵列分析：一项回顾性研究。
Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study.
作者信息
Xu Chenxia, Li Miaoyuan, Gu Tiancai, Xie Fenghua, Zhang Yanfang, Wang Degang, Peng Jianming
机构信息
Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, Guangdong, China.
Department of Urology, The People's Hospital of Zhongshan, Zhongshan, Guangdong, China.
出版信息
Mol Cytogenet. 2024 Jan 30;17(1):3. doi: 10.1186/s13039-023-00668-8.
BACKGROUND
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.
RESULTS
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.
CONCLUSION
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.
背景
染色体微阵列分析（CMA）是产前诊断中检测染色体单亲二体性（UPD）的一项重要工具。本回顾性研究对通过Affymetrix CytoScan 750K阵列分析进行侵入性产前诊断的胎儿进行了检查。我们评估了2007例接受羊膜穿刺术病例的染色体G带核型分析数据和CMA结果。
结果
纯合性区域（ROH）≥10 Mb的检出率为1.8%（33/2007），其中11号染色体受累最为频繁（17.1%，6/33）。有3例UPD根据印记基因表达预测出异常表型。
结论
通过CMA进行UPD检测的整合为产前基因诊断提供了一种更精确的方法。CMA在识别ROH和预防受印记疾病影响儿童的出生方面被证明是有效的。
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