Investigations of Visible Congenital Anomalies at Birth and Associated Factors in Southwestern Ethiopia

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Addis Abeba University


Background: Prenatal development can be considered as normal or abnormal. Abnormal development occurs because of interference of normal development from genetic disorders, environmental factors or the combination of genetic and environmental factors during the critical period of embryogenesis with which the neonate is born with a disorder that is described as congenital anomalies. Congenital anomaly is a series of structural, functional and metabolic abnormalities present at birth because of several causative agents during critical period of intrauterine life. Congenital anomalies highly contribute to abnormal intrauterine development that leads to prenatal disturbance and postnatal morphological defects that may persist throughout life. According to World Health Statistics, about 260,000 neonatal deaths worldwide are caused by congenital anomalies. The frequency of congenital anomalies in developing countries including Ethiopia is underestimated because of the deficiencies in diagnostic capabilities and lack of reliability of medical records and health statistics. Instead, the available recorded diagnoses in vital health statistics relay on obvious illnesses, rather than on preexisting congenital anomaly present at birth contributing to infant mortality and morbidity leading to the significant community problem. Therefore, it is vital to evaluate types, prevalence, incidence and predisposing risk factors which may provide a baseline for public health plan, suggesting protective strategies against congenital anomalies and establish genetic counseling if the defects are of genetic origin and provide input for further investigation. Objective: To assess the prevalence, incidence, types, and patterns of congenital anomalies or disorder at birth and associated risk factors among newborns in southwestern Ethiopia Methods and materials: The study was conducted in southwestern Ethiopia. This research used quantitative study methods and genetic analysis. The quantitative methods included institution based retrospective cross-sectional, descriptive cross-sectional and case-control study. The study was conducted from 2011 to 2015 during which 45,951 deliveries were attended for the retrospective document review study. All records of births that occurred in the selected hospitals during the study period were identified from medical records. Descriptive cross sectional study was also conducted in those six selected hospitals from 2016 to 2018, during which 35,080 deliveries were attained. A prospective registration of all delivers of any gestational age during the study period was conducted to determine the incidence of congenital anomalies. Newborns either still or life birth was evaluated for the presence of any congenital anomalies. Data was collected using structured and standard checklist. Case-Control study was conducted on newborns and their mothers within the period of 2016 to 2018 in those selected hospitals. Data were collected after evaluation of the neonate for the presence of congenital anomalies using the standard pretested checklist. The data was analyzed using SPSS version 25.0. P <0.05 was set to be statistically significant. Chromosomal abnormities were also detected in their sub telomeres region using multiple ligation probe dependent amplifications method with help of probe mix. Results The prevalence of the birth defects at birth was found to be 5.5 per 1000 births. Of a total of 35,080 neonates delivered during the study period, 0.72% of them had congenital anomalies. The overall incidence of congenital anomalies in southwestern Ethiopia was 71.6 per 10,000 births. Risk factors such as unidentified use of medications or drugs in the first three months of pregnancy (AOR = 3.435; 95% CI: 2.286 – 5.160), exposure to pesticide (AOR = 3.926; 95% CI: 1.659 – 9.289), passive smoking (AOR = 4.104; 95% CI: 2.277 – 7.397), surface water as sources of drinking (AOR = 2.073; 95% CI: 1.385 – 3.100) were significantly associated with the occurrence of congenital anomalies. Similarly, risk factors such as passive smoking (AOR = 4.171; 95% CI: 2.272 – 7.681), exposure to pesticide (AOR = 3.823; 95% CI: 1.606 – 9.106), and maternal diabetes mellitus (AOR = 16.381; 95% CI: 1.614 – 166.241) were significantly associated with the occurrence of neural tube defects. Multiple ligation dependent probe amplification analysis confirmed the presence of deletion in the chromosome bands of 3q29, 8q24.3, 9q34.4, 15q11.2, 15q26.3, 18p11.32, 19q13.43, Xq28 and duplications of 3p26.3 and 6p25.3 in sample population tested for chromosomal abnormalities Conclusions Nearly equal proportions of birth defects occurred among male and female newborns. The most frequent congenital anomaly was neural tube defects followed by musculoskeletal defects. From frequency distribution of associated factors, mothers who had neonates with congenital anomalies were exposed to passive smoking, pesticides, unidentified usage of medicines during the first three months. Poor folic acid supplementation was more frequent among the neonates delivered with congenital anomalies. Risk factors such as passive smoking, exposure to pesticides, chemicals and use of surface water as a source of drinking during early pregnancy had a significant association with the occurrences of congenital anomalies. As the congenital anomalies were found to be the main causes of infant mortality and morbidity, there is a need for an urgent intervention to control the cases and there is a need to continuously provide health information for the community on how to prevent and control predisposing risk factors. Chromosomal abnormalities were evident in sub-telemeric regions of some sample population.



Birth, Prenatal development