Epidemiological characterization of clubfoot: a population-based study of a surveillance program in Colombia.

Clubfoot is a common musculoskeletal congenital abnormality, with a prevalence of 5-20 cases per 10 000 live births in low to middle-income countries. If left untreated, clubfoot causes severe consequences for the child: gait disturbances, reduced quality of life, and limited work opportunities. Our objective was to characterize clubfoot and determine its prevalence and associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. 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 clubfoot, while controls consisted of infants without congenital abnormalities, matched in terms of birth date and hospital. Prevalence was calculated considering a 95% confidence interval using Poisson distribution, and risk factors were assessed through adjusted odds ratios obtained by logistic regression model. Of 558 255 births, 861 cases of clubfoot were identified, 48.20% were postural clubfoot, and 15 cases were syndromic clubfoot. In Bogota, prevalence rate was 15.1 per 10 000 live births, whereas in Cali it was 17.29 per 10 000 live births. Family history of clubfoot within first-degree relatives was identified as a risk factor for clubfoot. Investigating risk factors for clubfoot holds significant importance in terms of preventing and reducing morbidity within this population. Helping to drive government and healthcare initiatives aimed at providing timely and effective treatment.

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

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.

Congenital hypothyroidism in Bogotá, Colombia: a current description (2015-2021).

OBJECTIVES: Congenital hypothyroidism (CH) is a decrease in thyroid hormone function in newborns, being one of the leading causes of neurological deficits and long-term metabolic complications. This study aims to determine the prevalence and characteristics of CH cases in Bogotá, Colombia, between 2015 and 2021, as notified through the mandatory report to the Public Health Surveillance System (PHSS). METHODS: A retrospective cross-sectional study was conducted. All live births (LB) with a weight ≥500 g, diagnosed with CH with or without goiter (ICD-10 codes E030 and E031, respectively) in Bogotá during 2015-2021 were analyzed. RESULTS: For a total of 201 cases, the prevalence rate was 3.29 cases per 10,000 LB. 92.54 % were classified as isolated cases of CH, 4.48 % syndromic, and 2.98 % polymalformated. A total of 16.92 % was small for gestational age. The mean gestational age was 37.38 weeks (SD 2.76), 26.87 % were preterm births. Among the mothers, 8.96 % suffered from pregnancy-related or chronic diseases, the most common being hypertensive disorders of pregnancy and pre-existant hypothyroidism (without clarity concerning etiology). A total of 66.67 % of cases did not receive treatment after diagnosis. Treatment was established by an average age of 27 days after birth (SD 36.02) and 17 days after case notification to the PHSS (SD 36.13). CONCLUSIONS: Observed prevalence is similar to the rate reported by health authorities in Colombia but inferior to reports from high-income countries, highlighting the importance of improvements in the Colombian LB's screening program. Time to diagnosis and treatment was observed to be prolonged, suggesting that new pathways are required for timely CH treatment.