Abstract:
Objectives: The objectives were to assess the nature and the frequency of congenital malformations among infants and children who were admitted to Benghazi pediatric hospital and to
study the associated maternal and neonatal risk factors.
Patients and methods: A cross-sectional study design was used for this study. It included infants and children aged (0-16 yrs.) who were admitted to Benghazi Children Hospital and who
were following the genetic clinic, during the period of March 2016 to March 2017. These cases
had dysmorphic features and multiple congenital malformations. A record sheet was used to
collect the required data from cases.
Results: The total number of patients was 81 children, 51.85% were females, 48.15% were
males and infants represented 62%. Cases with a history of consanguineous marriage represented 28.40%. Equal proportions of mothers (1.23%) had a history of diabetes, epilepsy and
cardiomyopathy. Nearly a quarter of cases, (24.69%) were low birth weight. Prevalence of
congenital malformations (CMs) according to organs were; CVS (50.62%), musculoskeletal
(44.44%), eye (24.7%), limb defect (17.3%), GIT (14.8%), ear (14.8%), CNS (11.11%), urogenital (external & internal)(11%), cleft lip & palate (9.9%) and Trisomy 21 syndrome (48.1%).
Trisomy 21 syndrome have a high frequency of CHD compared to other syndromes; 67.9% had
CHD, P=.01. Most cases (90%) died within the first year of life, p=.002. Twenty-six percent of
the studied population died during the study period.
Conclusion: Most children with CMs and chromosomal abnormalities died within the first
year of life. There is a limitation of screening tools, which could lead to imprecise genetic counseling. CM is a significant cause of morbidity and admission. The highest prevalence of CMs
was CVS. Trisomy 21 syndrome was the most prevalent chromosomal abnormalities; these
cases were at more risk to have CHD compared to other syndromes. There is a shortage of
medical services, which applied as segmental services.
