Comparative analysis of standard karyotyping and chromosomal microarray analysis of products of conception obtained with miscarriage

There are various methods for the analysis of chromosomal rearrangements in embryos aborted in miscarriage. Chromosomal microarray analysis is one of the modern diagnostic methods. Studies to determine the diagnostic yield of CMA in comparison to standard karyotyping are of significant scientific and practical interest. Aim. The aim of the present study is to compare the results of CMA and karyotyping of products of conception from women with miscarriage. Materials and methods. A comparative analysis of the two diagnostic methods is based on the study of abortive material from 885 women. In 1st group, 632 women whose products of conception were analysed by CMA were included. The 2nd group comprised 253 women, whose material was directed to a cytogenetic study. Results and discussion. There were no significant differences between study groups in the proportions of samples with a normal and pathological chromosome set. However, the structure of chromosomal abnormalities spectrum in the study groups was different. In both groups, autosomal trisomies were found most frequently - 33.5% in the 1st group and 28.5% in the 2nd group among all the samples. Structural anomalies were significantly more frequent when using CMA - 4.4% of all effective studies in group 1, and only 0.8% (2 cases) in group 2. A higher frequency of polyploidy was revealed during cytogenetic examination. In the 1st group, triploidy was found in 35.8% cases, and tetraploidy in 0.5%. In the 2nd group, triploidy was detected in 10.0%, and tetraploidy - in 5.2% of cases. Conclusions. Traditional karyotyping and CMA have specific relative advantages and disadvantages. The number of chromosomal abnormalities detected using these methods is approximately the same, but the spectum of these anomalies is different. CMA reveals structural rearrangements more often, while karyotyping reveals more cases of multiple anomalies and polyploidy. Identification of structural anomalies has greater clinical significance since it may indicate an unbalanced translocation that is hereditary. The impossibility of detecting balanced translocations with CMA is a limitation of the method that is not as much clinically relevant since it is extremely rare in this type of material.

ХМА, кариотип, невынашивание беременности, хромосомные аномалии, синдром Дауна, CMA, karyotype, miscarriage, chromosomal abnormalities, Down syndrome

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