A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-02-11 DOI:10.1002/bdr2.2312

Esteban Portilla-Rojas, Lina Ramírez, Camilo Moreno, Juliana Lores, Karen Sarmiento, Ignacio Zarante

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Abstract

Background

Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020.

Methods

A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval.

Results

Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives.

Conclusion

These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.

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2002 至 2020 年哥伦比亚波哥大和卡利多指畸形风险因素的病例对照研究

背景多指畸形是一种先天性畸形，其特征是一个或多个肢体上有额外的手指。在哥伦比亚，多指畸形占 2021 年肌肉骨骼先天畸形的 17%，发病率为每 10,000 名活产婴儿中有 6.03 例。本研究旨在确定 2002 年至 2020 年哥伦比亚波哥大和卡利地区多指畸形的发病率，并识别相关风险因素。方法采用回顾性病例对照研究设计，分析先天性缺陷和孤儿疾病预防和跟踪计划监控系统提供的出生缺陷报告数据。病例包括患有多指畸形的活产或死产婴儿，而对照组则包括无先天性异常的婴儿，出生日期和医院均匹配。计算多指畸形的患病率，并通过逻辑回归模型得出的几率比（考虑 95% 的置信区间）评估风险因素。结果在纳入研究的 558 255 名新生儿中，发现了 848 例多指畸形，患病率为每万名活产婴儿 15.19 例。多指畸形的相关风险因素包括新生儿性别为男性、孕前糖尿病以及一级亲属中有畸形家族史。结论这些发现凸显了监测系统的重要性，该系统旨在描述先天性畸形人群的特征，为分析风险因素提供更好的选择，有助于改善预防、诊断、通知和对患者的最佳治疗。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.