Genetic factors and age analysis of spontaneous abortion based on copy number variation sequencing

LI Bojie; XIE Meihua; TAN Wenwu

Abstract：Objective:Chromosome abnormalities of spontaneous abortion products were detected by copy number variation sequencing(CNV-Seq)to explore the relationship between gestational age and the occurrence of chromo-somal abnormalities in embryos,and to provide reference for the clinical value of CNV-Seq technology in elderly pa-tients.Methods:The relevant data of 173 patients with spontaneous abortion who were successfully tested by CNV-Seq in yueyang central hospital from June 2020 to March 2025 were collected,and the results of spontaneous abortion products and patient age were analyzed.Results:The age distribution of patients were from 21 to 43 years old,the aver-age age was(30.69±4.59)years old,the proportion of elderly group(≥35 years old)reached 23.12％(n=40),the de-tection rate of pathogenic/possibly pathogenic copy number variations in the elderly group was 65.00％(26/40)among them,which was much higher than that of younger group(＜35 years old)with only 45.11％(60/133)(P＜0.05).X chromosome monosomy and chromosomal microdeletions/microduplications are predominantly distributed in the youn-ger age groups,and chromosome aneuploidy were more common in the elderly group.Conclusion:Gestational age signif-icantly affected the detection rate of chromosomal abnormalities in spontaneous abortion products,CNV-Seq is neces-sary for identifying the causes of spontaneous abortion,especially in elderly patients.