Genetic epidemiology of hereditary and congenital anomalies in the population of Mandi Bahauddin

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. CA are caused by a mutation in a gene, chromosomal aberrations, environmental factors, micronutrient deficiencies and multifactorial effects. CA causes significant mortality and morbidity among children both in developing and developed countries. Data on the prevalence-pattern of CA from the rural populations of Pakistan is largely missing. In this context, the main objective of this study was to investigate the genetic epidemiology and phenotypic pattern of CA in the population of Mandi Bahauddin. During this cross-sectional epidemiological study, a total of 201 independent cases with CA were recruited from door to-door surveys. All the anomalies were clinically diagnosed by physicians and specialized doctors and were classified into four major categories. In this cohort, the prevalence of the birth defects was in the following order: sensorineural defects (58%), neurological disorders (20%), neuromuscular anomalies (16%), and visual impairments (6%). Intellectual disability was the most common neurological disorder while cerebral palsy was most common neuromusculat anomaly. The representation of affected males (64%) was high as compared to affected females (36%). The sporadic cases 60% (n=121) were abundant in comparison with familial cases 40% (n=80). Majority of subjects were rural dwellers (54%) and belonged to lower middle class (42%). This study indicated a higher proportion of CA in young age group (56%). Parental consanguinity was found in 63% of the cases and familial cases had 40 % consanguineous marriages. Out of 80 familial cases,for 46%(n=37) subjects, affected persons were affected present in 2 generations and 64% (n=51) families had two family members affected.There was preponderance of subjects with first parity (40%).The current study provides useful information about the prevalence pattern of CA in Mandi Bhauddin and may bridge the gap in current knowledge about the causes and consequences of CA which may help relevant government authorities about the inception of management plans and health care centers for infants with CA.