Determinants of cleft lip and palate in Pakistan: A multicenter case-control study
Abstract
Objective: Cleft lip and/or palate (CL/P) is a common congenital orofacial anomaly influenced by genetic, environmental, and socio-demographic factors. Pakistan is among the countries with a relatively high incidence of CL/P. This study aimed to evaluate the biodemographic and maternal determinants associated with CL/P in a multi-ethnic Pakistani population. Methodology: A multicenter case–control study was conducted between 2021 and 2024 in Islamabad/Rawalpindi and the Potohar region of Pakistan, including 303 cases with CL/P and 427 controls recruited from Holy Family Hospital, Rawalpindi, and through random population-based sampling. Demographic, socio-economic, and maternal–obstetric information was collected using structured questionnaires. Bivariate analyses and multivariable logistic regression were performed to identify potential risk factors. Odds ratios (OR) with 95% confidence intervals (CIs) were calculated. Results: Most participants originated from Punjab province and rural areas. Significant socio-demographic predictors included province of origin, caste, and father’s occupation. Among maternal and obstetric factors, folic acid supplementation (OR = 0.39, 95% CI: 0.25–0.62) and vitamin use during pregnancy (OR = 0.24, 95% CI: 0.16–0.37) showed protective effects. In contrast, maternal depression during pregnancy (OR = 9.35, 95% CI: 3.47–25.23), delivery at home (OR = 2.86, 95% CI: 2.06–3.98), paternal age >35 years (OR = 1.87, 95% CI: 1.21–2.87), and parental consanguinity (OR = 1.56, 95% CI: 1.15–2.11) were significantly associated with increased odds of CL/P. Conclusion: This study highlights potential socio-demographic and maternal correlates of CL/P in Pakistan. The observed associations underscore the importance of antenatal care, folic acid supplementation, and awareness regarding potential risks associated with consanguineous marriages. However, further population-based and prospective studies are needed to establish causal relationships.