Clinical and genetic attributes of congenital anomalies ascertained at a tertiary care hospital in Rawalpindi, Pakistan

Objective: Congenital anomalies (CA) or birth defects cause substantial healthcare burden in developing countries. There are few studies from Pakistan on the prevalence-pattern of CA. The purpose of this study was to determine the prevalence-pattern and genetic attributes of CA at a tertiary care facility in Rawalpindi, Pakistan.Methods: In a cross-sectional study design, patients with CA were ascertained from Pediatric and Neonatal Section of Holy Family Hospital, Rawalpindi from March-2022 to June-2022. International Classification of Diseases (ICD-10) and Online Mendelian Inheritance in Man (OMIM) databases were utilized for uniformity in classification. The pattern of CA as well as familial/sporadic nature, syndromic/isolated presentations, and prenatal consanguinity were estimated. Descriptive summaries were generated.Results: A total of 517 independent cases with certain types of CA were recruited. There were eight major and 70 minor categories. Among the major categories, neurological disorders (39.1%) were predominating followed by neuromuscular disorders (21.1%), limb defects (13.5%), musculoskeletal defects (7.4%), blood disorders (4.3%), orofacial defects (3.9%), metabolic disorders (3.7%), and Others (7.1%). The sporadic cases were in majority (72.5%) compared to familial cases (27.5%). Further, 63% patients had syndromic presentations and there were 37% cases with isolated appearances. A total of 70% cases had parental consanguinity.Conclusion: The majority of anomalies were of preventable nature and certain healthcare measures including antinatal care and counseling can be adopted to minimize their burden. Additionally, there is an urgent need to raise awareness of the negative consequences of consanguineous marriages, which constitute a significant risk factor in cases with inherited CA.