Introduction: Birth defects usually occur during organogenesis (between 3rd and 8th week of gestation). They may result in complete or partial absence of an anatomical part or alteration of its normal configurations. Mostly, these are caused by environmental or genetic factors acting independently or in concert. Major structural anomalies occur in 2% to 3% of live born infants. An additional 2% to 3% are recognized in children by age 5 years, for a total of 4% to 6%. Objectives: To determine various risk factors responsible for such malformations and evaluate if increasing maternal age is an independent risk factor for major congenital anomalies diagnosed at the time of second trimester anatomic survey, in the absence of aneuploidy. Subjects and methods: The study design was a cross sectional, descriptive study conducted at Paeds wards of Services Hospital Lahore and Children Hospital Lahore. Infants admitted with congenital malformations were included in this research. Infants admitted with traumatic injuries or any other abnormalities which were not congenital in origin were excluded from the research. Results: A total of 390 mothers of the patients were interviewed for the study. 46.9% babies were male, 51.1 were female and 3.0% babies with ambiguous sex in whom sex was not yet established. The most frequent anomaly was Hirsch sprung Disease which was found 10% in subjects.26.6% patients presented with cardiovascular defects 23.3% patients presented with gastrointestinal defects, 9.7% patients presented with musculoskeletal, and 20% patients presented with central nervous system defects. Only 3.5% patients presented with respiratory system defects while 10.5% patients presented with and urogenital defects. Conclusion: The conclusion of study is that the increasing mother’s age is not associated with increased incidence of congenital malformations. The impact of a higher mother’s age on other chromosomal anomalies was not found to be so strong.
