背景:多指是一种先天性异常,其特征是在一个或多个四肢上存在额外的手指。在哥伦比亚,2021年,多指畸形占肌肉骨骼先天性畸形的17%,患病率为每10,000例活产6.03。这项研究的目的是确定多指的患病率,并确定相关的危险因素在波哥大和卡利,哥伦比亚,从2002年到2020年。
方法:采用回顾性病例对照研究设计,分析先天缺陷和孤儿疾病预防和随访计划监测系统提供的出生缺陷报告数据。病例包括多指的活产或死产,而对照组由没有先天性异常的婴儿组成,在出生日期和医院方面相匹配。计算多指患病率,并通过逻辑回归模型获得的比值比评估危险因素,考虑95%的置信区间。
结果:在纳入研究的558,255名新生儿中,发现848例多指畸形,导致每10,000例活产中15.19例的患病率。与多指畸形相关的危险因素包括男性新生儿性别,孕前糖尿病,一级亲属有畸形家族史。
结论:这些发现强调了监测系统的重要性,旨在表征先天性异常人群,为分析风险因素提供更好的选择,帮助改善预防,诊断,通知,以及患者的最佳治疗。
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.
CONCLUSIONS: 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.