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Risk factors associated with birth defects at a tertiary care center in Pakistan

Mohammad Zeeshan Raza1, Asfandyar Sheikh12*, Syed Salman Ahmed1, Sajid Ali1 and Syed Mumtaz Ali Naqvi1

Author Affiliations

1 Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan

2 Baba-e-Urdu Road, Karachi, 74500, Pakistan

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Italian Journal of Pediatrics 2012, 38:68  doi:10.1186/1824-7288-38-68

Published: 7 December 2012



Birth defects are defined as those conditions that are substantially determined before or during birth and which are recognizable in early life. They are an important cause of morbidity and mortality in infants. The main objective of the study was to determine the association of certain risk factors with birth defects occurring in pediatric patients seeking care in Civil Hospital, Karachi.


This was a prospective, cross-sectional study conducted at Department of Pediatrics: Units I, II and III of Civil Hospital Karachi, which is a tertiary care hospital located in the city center. These units provide care to pediatric patients from all over the country, with majority belonging to a low socioeconomic background. All infants with at least one birth defect were approached and their mothers interviewed. Demographics of both the mother and the infant were noted. Questions regarding possible exposure to risk factors were asked. Infants who were not accompanied by their mothers were excluded from the study.


A total of 587 out of 669 infants completed the study successfully. Of these, defects related to urogenital system (19.9%) were the commonest, followed by those related to eye (16.9%), musculoskeletal system (12.9%), body wall defects (12.3%), oral cavity (12.1%), central nervous system (10.9%), gastrointestinal tract (3.2%), cardiovascular system (2.7%) and those related to ear, nose and throat (1.2%).


669(4.1%) out of a total of 16,394 pediatric patients visiting the hospital during our study were identified as having at least one birth defect. The commonest ones were those related to the eye and the urogenital system. The main factors that influence the occurrence can be grouped into maternal, socioeconomic, nutritional and educational.