Ievtushok B. Clinical, Genetic and Epidemiologic Characteristics of Neural Tube Defects (on the Model of Rivne region)

Research object: neural tube defects in Rivne Region during 2000-2014. Research aim: to determine clinical-genetic and epidemiologic traits of NTDs in Rivne Region for substantiating and developing approaches to NTDs prevention by detecting risk factors for their occurrence. Research methods: epidemiologic, clinical-genealogic, radiometric, electrochemiluminescence, molecular-genetic, interview, statistics. Epidemiologic and clinical-genetic features were determined followed by suggesting justified activities aimed at improving prevention and diagnosis of NTDs. The rates of NTDs in Rivne Region were noted to persistently remain among the highest in Europe. The NTD rates in Polissia were found to be significantly higher compared to non-Polissia areas. Moreover, high NTD rates in Polissia were observed on the background of higher (compared to non-Polissia) levels of incorporated Cs-137 among pregnant women. The noted risk factors for NTD occurrence include fourth and higher pregnancy number, previously having 4 or more deliveries, and spontaneous abortions. A poor awareness of folic acid role in prevention of NTDs was noted among reproductive age women in Rivne Region and ways to improve the awareness were suggested. The findings support usefulness of providing in-depth preconception consultations for women gestating their fourth or higher pregnancy or having a history of spontaneous abortions, as well as following appropriate nutrition rules, namely radio-protective. The study showed the need to look for associated anomalies (particularly midline defects) at pre- and post-natal diagnosis of every NTD case to improve the quality of medical-genetic consultation and assessment of recurrence risks. The study demonstrated the necessity to reinforce public sanitary-educational actions focused on preconception health and outlined the ways to achieve their improvement. The research findings and subsequent practical recommendations have been implemented in medical facilities, namely medical-genetic centers, and are used in pedagogic activities of the Medical and Laboratory Genetics Chair of the P.L. Shupyk National Medical Academy of Postgraduate Education.