ObjectiveUsing chromosome microarray analysis (CMA) to analyze the relationship between embryo damage and chromosomal abnormalities, and to explore the genetic factors leading to embryo damage.

Method431 patients who visited Maternal and Children’s Health Hospital of Linyi due to embryo damage from January 2018 to December 2023 and underwent CMA on the suspended tissues were selected as the research subjects. The CMA results were analyzed based on relevant databases. Dividing pregnant women into an older group (≥ 35 years old) and a younger group (<35 years old) based on their age, comparing the differences in chromosome abnormality rates between the two groups, and perform statistical and comprehensive analysis on the test results.

Result430 out of 431 miscarriage villous samples were successfully detected, including 289 cases of chromosomal abnormalities (67.21%), including 144 cases of chromosome trisomy, 45 cases of haplotype, 35 cases of triploid, 19 cases of complex trisomy, 11 cases of chimerism, 6 cases of near triploid, 1 case of tetrasomy, and 28 cases of copy number variation (CNV). Chromosomal trisomy is mainly composed of trisomy 16 and trisomy 22, while chromosomal haplotypes only occur with X and 21 monomers.Among the 28 samples with chromosomal structural abnormalities, 16 samples have two or more CNVs simultaneously, resulting in a total of 45 CNVs. Among them, 35 were pathogenic variants, 4 were potentially pathogenic variants, and 6 were clinically unknown CNVs. The incidence of chromosomal abnormalities in the younger and older age groups was 62.11% and 75.17%, respectively, and there was a significant difference between the two groups, which was statistically significant ( P=0.009 2).

ConclusionsChromosomal abnormalities are genetic factors that cause of embryo damage, chromosome number abnormalities are the main genetic cause, and CNV is also an important cause of embryo damage. Age is significantly correlated with chromosomal abnormalities in embryo damage.