Cytogenetic findings of couples with reproductive failure – retrospective analysis from Bulgarian Population

Introduction Reproductive failure (RF) includes a variety of problems such as infertility, recurrent miscarriages, stillbirths, the birth children with multiple defects, and/or mental retardation. Chromosomal aberrations in one partners (in 2-8%) are considered to be causes reduced fertility couples reproductive age. Aim The aim this study was evaluate effect chromosomal abnormalities families Bulgarian population. Materials and Methods A total 1733 patients unexplained RF, who visited Laboratory Medical Genetics–Varna, Bulgaria, between January 2004 December 2019, were investigated by conventional cytogenetic analysis GTG differential banding technique. Approximately 10 metaphases karyotyped for each patient on resolution 400-550 bands. Results found 110/1733 infertile (6.35%), percentage women (4.33%) statistically significant (p <0.0001), higher than that men (2.02%). Most combined history (40.9%, 45/110). Regarding type abnormality, structural (63.7%) almost twice many numerical (33.6%). very low (2.72%). us included only sex chromosomes, 91.9% they presented mosaic variant. Of these, 88.2% affected females <0.0001). complete form chromosome aneuploidy 3 individuals, all males. aberrations, 88.6% full form, which most common translocation (82.3%). Conclusion RF is socially problem, relative share disorders worldwide, well constantly growing. results our contribute detection 6.35% Bulgaria present undeniable benefit conducting couples.