ABSTRACT
Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of limb reduction defects (LRDs) in some Polish regions is significantly higher in comparison to that reported in the European Surveillance of Congenital Anomalies (EUROCAT) registry, but specific risk factors are still unknown. The objectives of this study were two-fold: to detect risk factors linked to isolated LRDs among Polish natives and to search for geospatial clusters of isolated LRDs to identify high-risk areas across the country. Among the 2,939,001 births accounted for in the PRCM, we determined that there were 852 children with distinct LRDs. Our data demonstrate that lower birth weight, prematurity, and maternal smoking history are strongly associated with isolated LRDs. Furthermore, our investigation pointed to various additional risk factors for isolated LRDs, including paternal education, gestational hypertension, upper respiratory tract infections, and exposure to anti-inflammatory drugs in the first trimester of pregnancy. We did not recognize statistically significant spatial or spatiotemporal clusters over the area of Poland using Kulldorff's scan. Our study strengthens the hypothesis that maternal factors have an integral role in the etiology of isolated LRDs.
ABSTRACT
The goal of this analysis is to identify risk factors for infantile hemangiomas (IH) to better delineate hemangioma predisposition. We analyzed live birth children with isolated cutaneous hemangioma that were reported to the Polish Registry of Congenital Malformations from across Poland between the years 1998 and 2016. Lower birthweight and gestational age were the most significant risk factors associated with IH. We also observed a trend for a higher risk of IH with a lower level of maternal and paternal education. Moreover, mothers with IH have a higher probability of having a child with IH compared to fathers. However, this association is only present when the child is female. Similarly, a higher risk of hemangioma in a female child is found among mothers having relatives of the first degree with IH, compared to fathers with a similar pedigree. Our results suggest the role of exogenous factors in the etiology of IH. The analysis of familial cases suggests a multifactorial model of inheritance. The study indicates that female gender is an important risk factor for the expression of familial IH. Potential interaction of genetic risk factors with exposure to female sex hormones may play a role in the development of IH.
