Chromosomal abnormalities of 564 miscarriages

Chromosomal abnormalities are important causes of miscarriages. To delinate the chromosomal abnormalities in miscarriages, 564 miscarriages were collected and analyzed using single nucleotide polymorphism (SNP) array. 336 (59.6%) miscarriages were with abnormal copy number variations (CNVs), including 325 (57.6%) miscarriages with pathogenic CNVs and 11 (2%) miscarriages with variations of unknown significance (VOUS). The remaining 228 (40.4%) miscarriages had no clinically relevant chromosomal variants. 542 chorionic villus samples, five amniotic fluid samples and 17 skin tissues from aborted embryos were obtained. Chromosomal abnormalities, including homozygosity, triploidy, trisomy and chromosomal deletions/duplications in 564 miscarriages were detected by SNP array. Chromosome Analysis Suite (ChAS) was used to analyze the SNP arrays. CEL files for 191 samples were lost.