Chromosomal Microarray Analysis for Prenatal Diagnosis of Uniparental Disomy: a Retrospective Study

Overview

Journal Mol Cytogenet

Publisher Biomed Central

Specialty Biochemistry

Date 2024 Jan 30

PMID 38291465

Authors

Chenxia Xu

Miaoyuan Li

Tiancai Gu

Fenghua Xie

Yanfang Zhang

Degang Wang

Jianming Peng

Affiliations

Soon will be listed here.

Abstract

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.

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