Abstract:
Congenital malformations (CMF) are structural or functional defects of the human
body that arise during development. These malformations can be detected during
antenatal examination, at birth or at times can also be discovered in early childhood. The
occurrence of congenital malformations in developing countries is close to that seen in
developed countries, however, it has a severe impact in middle and low income countries.
Every year, around three million children under the age of five die as a result of birth
abnormalities worldwide, around 3.2 million live-born infants are physically or
intellectually challenged for life, and approximately 270,000 newborns die during the first
twenty-eight days of life due to congenital abnormalities. The objectives of this research
were to determine the association of congenital malformations with maternal risk factors
in different ethnicities and to determine the association of craniofacial congenital
malformations with anomalies of other systems. At the Jinnah Postgraduate Medical
Centre (JPMC) and Tanveer Ultrasound Clinic in Karachi, this observational, case control research was carried out. A total of one hundred and twenty pregnant women
between the age of 18 - 45 years were included in the study, of them, 60 (the case group)
had fetuses with structural abnormalities and 60 (the control group) had fetuses with
normal structural development. The Participants were categorised into five groups based
on their ethnicity (Balochi, Pashtun, Punjabi, Sindhi and Urdu speaking). An informed
and understood consent was obtained and a detailed history followed by a thorough
obstetric ultrasound was performed by a consultant radiologist to evaluate the type of
congenital malformations. All the findings were noted in the subject evaluation form. Age
of the mother, level of education, social status, body mass index, systolic and diastolic
blood pressure, parity, multiple pregnancies, consanguinity, diabetes mellitus,
hypertension, thyroid diseases, cardiac diseases, epilepsy, asthma, psychiatric diseases,
kidney diseases, family and past history of congenital anomaly, exposure to rubella,
maternal use of folic acid supplement/antenatal supplements and use of medicine (other
than antenatal supplements) considered as risk factors were evaluated. Anomalies of the
central nervous system (CNS) were most often identified. 26.7% (32), followed by
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genitourinary anomalies 17.5 % (21) miscellaneous anomalies 9.2% (11),
craniofacial anomalies 6.7% (8), musculoskeletal anomalies 5% (6), anomalies of GIT
2.5% (3), anomalies of abdominal wall 1.7% (2) and, finally, cardiovascular defects 0.8%
(1). Maternal age (25 – 29 years) (OR = 3.043, 95% CI = 1.010 – 9.163), education
(secondary level) (OR = 11.500, 95% CI = 2.345 – 56.393), family income (OR = 3.348,
95% CI = 1.122 – 9.994), use of medications (other than antenatal supplements) (2nd
trimester) (OR= 6.696, 95% CI = 2.069 – 21.671), history of consanguinity (OR = 3.429,
95% CI =1.582 – 7.433) and family history of birth defects (OR = 5.535, 95% CI = 1.736
– 17.646) were significantly associated with an increased risk of congenital
malformations. Our study further showed a significant association between congenital
malformations of central nervous system and Urdu speaking mothers (p = 0.016)
compared to Balochi, Pashtun, Punjabi, and Sindhi, however the results cannot be
generalized to the population as a whole due to the small sample size and time constraints.
There was also a significant association between craniofacial congenital anomalies and
the central nervous system (p = 0.000), the musculoskeletal system (p = 0.004), and
miscellaneous congenital abnormalities (p = 0.030)
