Investigation of congenital major/minor anomaly frequency and affecting factors in newborns born at Dokuz Eylül University Faculty of Medicine or referred to our neonatal policlinic

Aim: The aim of this study is to determine the incidence and the distribution of congenital anomalies and re-identify the affecting factors in children who were born at Dokuz Eylül University Faculty of Medicine or referred to our neonatal polyclinic, to contribute to the literature in our country. Methods: The study included patients aged 0-28 days who were born alive or who applied to the neonatal polyclinic at Dokuz Eylül University Medical Faculty between 1 October 2016 and 31 March 2017. For each newborn, pre-prepared data collection forms were filled in and information about birth, medical history of the mother and baby, use of assisted reproductive technologies, folic acid and drug use in pregnancy, teratogen exposure, family history and physical examination findings of the baby were recorded. The accuracy of the information was checked via the hospital information system, the results of imaging or other consultations made up to September 2017 and the anomalies detected up to same date were recorded further. All patients with multiple minor anomalies or any major anomalies were directed to the policlinic of Pediatric Genetics Department. Results: Data forms of 486 patients was evaluated in this study. There were 224 girls (46.1%) and 262 males (53.9%). Of all, 207 (%42,6) cases delivered of spontaneous vaginal route and 279 (%57,4) of caesarean section were detected. Preterm birth rate was 22.4% (109 cases). Six percent of the cases were from multiple pregnancies. Of all, 17,8% were hospitalized in an neonatal intensive care unit and 14% in a newborn clinic. The mortality rate was 1.9% in the study period. Major malformations involving a single organ or system were found in 29 of 486 patients (6%), multiple major malformations in 5 (1%), and one or more minor anomalies in 125 (25.7%). When all malformations were considered, it was observed that the number of patients with a congenital anomaly increased to 141 (29%). It was determined that there was an increase over the years since the incidence of major anomalies was 1.6% and the frequency of all anomalies was 3.9% in live births in 1994 according to another study in our university hospital. In our study, cardiovascular anomalies (36,8%) were the most frequent major anomalies, the skeleton system (15,8%) was in the second and genitourinary system abnormalities (13,2%) were in the third place. When minor anomalies were added, genitourinary system anomalies (28.2%) were the most common, central nervous system anomalies (17.3%) were the second most frequent, and head and neck region anomalies (11.2%) were the third. Anomalies were detected before birth in 23 patients (44.2%) among whose anomalies where diagnosable prenatally. Factors significantly increasing the incidence of congenital anomalies were maternal urinary tract infections, amniotic fluid volume changes, assisted reproductive technologies, consanguinity (second degree cousins and closer relatives marriage), positive family history of anomalious person within parents and siblings, maternal education level and working status. A relationship between gender, mode of delivery, prematurity, birth weight, multiple pregnancy, maternal age, gravida, parity, abortus, termination and stillbirth numbers, pregestational or gestational diabetes mellitus, maternal diseases, gestational use of medicines, pregnancy follow-up frequency, use of folic acid, alcohol, cigarettes or exposure to radiation, level of education or working status of the father and the congenital anomalies has not been shown within our study. In the presence of two or more minor anomalies, the frequency of major anomalies significantly increased (OR = 6.31, 95% CI: 2.74-14.48). Conclusion: We investigated the frequency of congenital anomalies and affecting factors in a six-month period at the Dokuz Eylül University Medical Faculty Hospital, and observed that the frequency of anomalies may have increased and the distribution varied over the years comparing with previous researches. For this reason, we consider that it is necessary to initiate a surveillance programme immediately for the congenital anomalies throughout the country. In the light of the risk factors we have found, the reduction in the number of consanguineous marriages and the increase in the level of education of women should result in a great decrease in congenital anomaly frequency. There is a need for randomized controlled trails with larger populations, investigating the pathogenesis and assosiation between congenital anomalies and both maternal urinary tract infections and assisted reproductive technologies.