Frequency and spectrum of karyotype abnormalities of embryos/fetuses from missed pregnancies with the involvement of sex chromosomes

The objective: to evaluate the spectrum of cytogenetic aberrations with involving of sex chromosomes in embryos/fetuses depending on the age of pregnant women and the term of missed pregnancies losses. Materials and methods. It was analyzed the results of karyotyping of biological samples from women who had embryos/fetuses with abnormalities of sex chromosomes. A chorionic biopsy was performed for further diagnosis of chromosomal abnormalities in chorionic villi. A total of 74 abortions from 2017-2024 were examined retrospectively. The average age of the pregnant women was 29.6±0.62 years. Statistical analysis of the experimental data was carried out using the methods of variation statistics.Results. It was determined that the most frequent among sex chromosome abnormalities in the samples from missed pregnancies was monosomy of chromosome X, which accounted in 90.5% samples. In 61.4% of women, who had embryos with monosomy X, including mosaic variants of karyotypes, the abnormalities were detected during the first pregnancy. In 74.1% of women who had embryos with monosomy X and had several pregnancies, recurrent pregnancy losses were found. In the group of women who had embryos/fetuses with sex chromosome aberrations, missed pregnancy was found more often in the term of less than 12 weeks, compared to more than 12 weeks (93.2%:6.8%). Mosaic karyotypes involving monosomy X were found in 4.1% of embryos. In 5.4% of cases, abnormalities related to the Y chromosome, including a mosaic karyotype of 47,XXY[14]/48,XXYY[15], were detected.Conclusions. Genetic testing of the biological material of embryos/fetuses with abnormalities of sex chromosomes, which are compatible with life and lead to the birth of children with Turner and Klainfelter syndromes, require a comprehensive analysis of the products of conception based on genetic etiology and clinical information. Clinical consultation based on etiologic analysis is critical to reducing anxiety and distress in pregnant women.