The frequency and spectrum of birth defects among 486 longlivers from Ivano-Frankivsk region (West Ukraine)

Birth defects (BD) have a significant impact on the health and further development of the child and its adaptation in society. The purpose of this study was to document the epidemiological features of BD in longlivers from Precarpathian region (West Ukraine). Methods : cytogenetic, clinical, genealogical. Results : The medical history of BDs, somatic pathology and karyotyping was observed in 486 longlivers aged 90-102 from Ivano-Frankivsk region (West Ukraine) during 17 years (1998–2014 yy). In the group of 486 longlivers there were 15 (3.1%) patients with BD which in our study were isolated. The following defects have been diagnosed: cleft lip and cleft palate (2 men and 1 female), genital organs (1 man) and musculoskeletal system (2 men and 9 female). So patients lived for so long and it did not really affect the quality of their lives). In the longlivers prevailed cleft lip with or without palate, syndactyly and congenital complete absence of upper limb and significant difference was found (p<0.05) in Eurocat. Stable chromosomal aberrations in any longlivers person is not identified. In a group of 15 longlivers with BDs and in the group of 130 longlivers without BDs, there were no significant differences (p>0.05) in the frequency of chromosomal aberrations. Conclusion Our study also showed that no significantly risk of BDs among longlivers 3.1% and population of Ukraine -2.32% and Eurocat- 2.55%. The spectrum of chromosomal aberrations of the proband with BD and longlivers without BD had no significant difference (p>0.05) among them.