Surveillance of Congenital Malformations and Their Possible Risk Factors

Abstract

Objective: To determine the frequency, distribution, and patterns of congenital malformation (CMF) among babies born in a teaching hospital in Punjab, while also investigating factors contributing to their occurrence.

Methodology: This prospective study was conducted at Tertiary care Hospital Nishtar 2, Multan from January 2023 to December 2023. CMF was operationally defined as structural abnormalities detected either at birth or within the first week of life, with major anomalies necessitating surgical or medical intervention due to serious structural, cosmetic, or functional impairment. The diagnosis of CMF relied on prenatal ultrasound or clinical assessment by experienced neonatologists.

Results: Folic acid intake and consanguinity was the most common in congenital malformations as 30.9% and 26.5%, respectively. Out of 68 malformations, 45.6% were CNS anomalies followed by hydrocephalus 19.1% infants. Musculoskeletal anomalies were found in 17.6% patients, followed by talipeseqinovarus 7.4% infants. Gastrointestinal anomalies were found in 19.1% infants, followed by fetal ascites 7.4% infants. Renal anomalies were found in 17.6% infants, followed by multicystic/dysplastic kidneys 10.3% infants.

Conclusion: The study highlights consanguineous marriages and insufficient folic acid intake as primary risk factors, advocating for increased awareness on folic acid intake during conception and early pregnancy, avoidance of cousin marriages, and universal antenatal care to aid in prevention, timely diagnosis, and management of congenital anomalies.

Keywords: Congenital malformation, Risk factors, Surveillance, Genetic disorder, Prevalence