Genetic determinants of missed miscarriage in assisted reproductive technology programs

Objective. To study the frequency and pattern of chromosomal abnormalities (CAs) in missed miscarriage (MM) following assisted reproductive technology (ART) programs. Materials and methods. This study presents a retrospective analysis of 233 MM cases following ART. Cytogenetic testing of 188 chorionic villus samples (conventional karyotyping, quantitative fluorescent polymerase chain reaction, microarray-based comparative genomic hybridization and next-generation sequencing) was performed. Results. CAs were detected in 41.5% of cases. The most frequent were trisomy 16 (28.2%), 22 (18.0%) and 2 (9.0%), sex chromosome aneuploidies (trisomy X – 6.4%, monosomy X – 5.1%). Polyploidy was less frequent (9%), more common in patients under 35 years of age. Trisomy was predominant in women over 35 years of age. Preimplantation genetic testing for aneuploidies was performed in only 7.7% of patients with MM. Conclusion. CAs are the leading cause of MM after ART. Preimplantation genetic testing should be widely implemented. Maternal age is a key risk factor. The method of conception does not affect the frequency of chromosomal abnormalities.