[Diagnosis and prevention of neural tube defects--where are we? (Data based on the registry of congenital anomalies in the Pleven region)].

ABSTRACT

AIMS: to present some clinical and epidemiological data, concerning diagnosis and prevention of neural tube defects (NTDs), based on the registry of congenital anomalies (CAs) in the Pleven region; to analyse our data comparing with the data of other registries in Europe. MATERIALS AND METHODS: The source of the data was the regional population-based registry of Cas (in live births, stillbirths and terminations of pregnancy following prenatal diagnosis) using criteria according to EUROCAT recommendations. During the study period 1988-2006, 47 622 births were surveyed in the University hospital, City of Pleven. RESULTS: A total of 107 cases of NTDs were ascertained. About 20% of the cases with isolated NTDs were in terminations of pregnancy following prenatal diagnosis, in 80% of the case the diagnosis was ascertained in liveborn and stillborn fetus. The isolated NTDs were among the most common CAs, with a proportion of 8% of all registered cases and a prevalence of 2 per 1000 births. The genetic counseling revealed familial data (other affected child/pregnancy) in 7% of families with NTDs. Prenatal diagnosis was provided to the subsequent risk pregnancies in the affected families and NTDs were detected in 7% of the pregnancies. CONCLUSION: Neural tube defects are a common type of congenital defects that demonstrated a relatively high prevalence in the Pleven region. The data of the study indicates that there is a need to develop an official government policy regarding prevention of NTDs (pericoceptional folic acid supplementation and antenatal screening of CAs).