染色体微阵列分析在727例流产组织中的应用研究OA

Objective To clarify the genetic etiology of spontaneous abortion(SA),evaluate the diagnostic value of chromosomal microar-ray analysis(CMA)in identifying the causes of SA,and reveal the types and distribution patterns of chromosomal abnormalities in abor-tion tissues,thereby providing a scientific basis for genetic counseling and reproductive risk assessment.Methods A total of 727 abortion tissue samples from women with spontaneous abortion(excluding cases with pregnancy-related infections or harmful substance expo-sure)were collected at Beijing JIAEN Hospital from January 2017 to December 2024.Genome-wide microarray analysis was performed using the Affymetrix CytoScan 750K array following the manufacturer's standard protocols.All detected copy number variations were clas-sified based on ACMG/ClinGen guidelines,with pathogenicity assessed through comprehensive database queries.The types,frequencies,and distribution characteristics of chromosomal abnormalities were statistically analyzed.Results The overall abnormality rate was 62.04%(451/727),with chromosomal numerical abnormalities accounting for the vast majority(88.91%,401/451).Trisomy 16 and 22 were the most common,followed by monosomy X.Other abnormalities included polyploidy(41 triploid and 4 tetraploid cases),microdele-tions/microduplications,and complete hydatidiform moles(whole-genome uniparental disomy,UPD).Conclusion CMA enables precise detection of chromosomal abnormalities in abortion tissues.Compared with traditional karyotyping,CMA demonstrates superior resolution and success rates due to its independence from cell culture,particularly in identifying microdeletions/microduplications,UPD,and com-plex structural variations.