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

This is the authors' abstract. We don't add key points for this paper.

Background: Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for detecting chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal diagnosis through Affymetrix CytoScan 750K 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). CMA successfully identified three cases of UPD stemming from imprinted genes. Conclusion: The combination of karyotyping and CMA can provide a more accurate prenatal genetic diagnosis. CMA proves effective in identifying ROH and in averting the birth of children afflicted with imprinting diseases.