Phenotypic and genetic attributes of congenital and hereditary anomalies ascertained at a tertiary care hospital, Rawalpindi

Abstract

Congenital anomalies (CA) also known as birth defects are functional, structural, and metabolic defects that occur during the period of organogenesis and observed at birth or later in life. Birth defects are caused by mutation in a gene, chromosomal aberrations, environmental factors, micronutrient deficiencies and multifactorial effects. CA cause significant mortality and morbidity among children both in developing and developed countries. The main objective of this study was to investigate the prevalence pattern of hereditary and congenital anomalies in the multiethnic population of Rawalpindi, and the elucidation of their phenotypic and genetic attributes and associated disorders. During this epidemiological study, a total of 517 independent cases with CA were recruited from Holy Family Hospital, which is the main tertiary care hospital in Rawalpindi. All the anomalies were diagnosed by expert physicians and pediatricians and were classified into eight major categories. In this cohort, the prevalence of the birth defects was in the following order: neurological disorders (39.1%), neuromuscular disorders (21.1%), limb defects (13.5%), musculoskeletal defects (7.4%), blood disorders (4.3%), orofacial defects (3.9%), metabolic disorders (3.7%), cardiovascular defects (2.1%). The ratio of affected males (56%) was high as compared to affected females (44%). The sporadic cases (n=375, 73%) were abundant in comparison with familial cases (n=142, 27%). There were more syndromic cases (63%) than isolated cases (37%). Parental consanguinity was found in 70% of the cases. The current study provides useful information about the prevalence pattern of birth defects and will be helpful in making policies for the prevention of CA. As most of the CA were of preventable nature, certain health care measures should be taken to reduce the prevalence of such anomalies. Immunization, vaccination, antenatal care, proper medications and improved nutrition can minimize the number of these anomalies.