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.

Highlights

  • Following the Thalidomide tragedy in the 1960s, the prevalence of limb reduction defects (LRDs) became one of the key indicators of teratogenic effects of exogenous factors in humans [1,2]

  • Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of isolated LRDs in some Polish regions is significantly higher in comparison to that reported in the EUROCAT registry [14,15,16,17] and other registers, such as the Alberta Congenital Anomalies Surveillance System (ACASS) [18]

  • The objectives of this paper are two-fold: first, we aim to study the characteristics of LRD cases and detect specific maternal factors associated with isolated LRDs

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Summary

Introduction

Following the Thalidomide tragedy in the 1960s, the prevalence of limb reduction defects (LRDs) became one of the key indicators of teratogenic effects of exogenous factors in humans [1,2]. Several risk factors associated with LRDs have been identified. Young maternal age (under 25 years old) has been recognized as one of the factors influencing LRD [3,4]. Certain illnesses, injuries, and exposures to certain medications and chemical substances in the first trimester have been recognized as potential risk factors [3,4,5,6,7,8,9,10,11,12]. There is no effective way to prevent these types of defects

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