title: [Diagnosis and prevention of neural tube defects--where are we? (Data based on the registry of congenital anomalies in the Pleven region)].
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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).
authors.forename: K
authors.initials: K
authors.lastname: Kovacheva
authors.forename: M
authors.initials: M
authors.lastname: Simeonova
authors.forename: A
authors.initials: A
authors.lastname: Valkova
authors.forename: V
authors.initials: V
authors.lastname: Atanasova
authors.forename: M
authors.initials: M
authors.lastname: Yonov
authors.forename: S
authors.initials: S
authors.lastname: Stoikon
authors.forename: I
authors.initials: I
authors.lastname: Barzashki
authors.forename: R
authors.initials: R
authors.lastname: Rosmanova
mesh_terms: D002031:Bulgaria / Q000453:epidemiology; D005060:Europe / Q000453:epidemiology; D005260:Female; D005492:Folic Acid / Q000627:therapeutic use; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D009436:Neural Tube Defects / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics / Q000517:prevention & control; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D015995:Prevalence
chemical_list: D005492:Folic Acid