Objective This study aims to investigate the distribution of chromosomal abnormalities in miscarried chorionic villi or embryonic tissues using chromosomal microarray analysis(CMA),and to explore its correlation with gesta-tional age and maternal age,thereby assessing the application value of CMA in the genetic diagnosis of spontaneous miscar-riages.Methods The study collected samples from 891 women who experienced miscarriages treated at Nantong Maternal and Child Health Care Hospital from February 2021 to November 2023.These samples,involving miscarried chorionic villi or embryonic tissues,were subjected to CMA and quantitative fluorescence polymerase chain reaction(QF-PCR)analysis.Based on CMA results,samples were categorized into four groups:chromosomal numerical abnormalities,pathogenic copy number variations(CNVs),variant of uncertain significance(VOUS),and no apparent abnormalities.The study compared CMA out-comes across different maternal ages and gestational weeks to identify any significant differences.Results Of the 891 miscar-riage samples analyzed,366 cases(41.08％)exhibited chromosomal numerical abnormalities.Additionally,pathogenic CNVs were detected in 54 cases(6.06％),and VOUS in 67 cases(7.52％).In early pregnancy(1-12 weeks),the proportion of chro-mosomal numerical abnormalities was as high as 46.60％,which slightly decreased to 38.35％in the pregnant metaphase(13-27 weeks),and no such abnormalities were observed in late pregnancy(beyond 28 weeks).Aneuploidies,particularly autosomal trisomies or monosomies,were common,with trisomy 16 being notably prevalent.About 75.93％of the pathogenic CNVs involved unbalanced chromosomal anomalies,including deletions and duplications.The data also revealed a positive correlation between increasing maternal age and the risk of genetic abnormalities,with a significant increase in genetic ab-normalities in women over 40 years of age.Conclusion CMA serves as a crucial tool in the genetic diagnosis of fetal miscar-riage,capable of detecting chromosomal numerical anomalies and genomic copy number variations.This provides critical guidance for assessing the risk of subsequent pregnancies.
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