Анализ CNVs при анэмбрионии и неразвивающейся беременности

Despite the high frequency of early pregnancy losses in human embryo development, copy number variations (CNVs), as one of the possible causes of miscarriage, are insufficiently explored. The present study is aimed to search for copy number variations (CNVs) in euploid anembryonic pregnancies and missed abortions. The 29 samples of extraembryonic tissues from anembryonic pregnancies and 18 samples of extraembryonic mesoderm from missed abortions were analysed using array comparative genomic hybridization (CGH) on high-resolution microarrays. Copy number variations were detected in both experimental groups but their total number in anembryonic pregnancies (299 CNVs) were significantly higher than in the group of missed abortions (132 CNVs). Several CNVs were selectively verified using real-time PCR. The predominance of microdeletions in anembryonic pregnancies is noteworthy. Nineteen (54.3%) potentially pathogenic microdeletions and 16 (45.7%) microduplications were found in anembryonic pregnancies while there were only microduplications in the group of observed missed abortions.