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Aim: To assess the efficacy of nationwide programme of prophylaxis of neural tube defects in the Lower Silesia region., Material and Methods: A questionnaire study was conducted among all mothers of infants admitted between 2001 and 2010 to the Department of Pediatric Surgery and Urology in Wroclaw Medical Academy. The data regarding pregnancy and delivery, newborn's medical condition, family history, parental health, profession and education, and finally folic acid supplementation by mothers were analysed., Results: Among 1278 newborn infants, in 148 children (11.6%) central nervous system (CNS) defects were diagnosed. Among 894 mothers (69.9%) who took part in the study, 159 of them (17.8%) confirmed taking folic acid before becoming pregnant. The rate of supplementation with folic acid showed a rising trend in the study period and increased from 7.1% in 2001 to 35.8% in 2010. Folic acid was taken more frequently by the women living in urban areas (24.2%) than by those living in rural regions (9.2%). With regard to the educational level, the highest rate of supplementation with folic acid was noted among the women with high education (37.8%). Forty-eight percent of mothers were informed about prevention of neural tube defects by their physician, while in 32% of them the family or media were the source of information. Mothers of 255 infants confirmed that they knew about prevention of congenital defects by vitamin intake, but they had not taken folic acid before pregnancy., Conclusion: 1. Realization of the programme of prevention of neural tube defects in Lower Silesia region is highly unsatisfactory. 2. The actions undertaken on the national and local level and aimed to popularize the knowledge about prevention of CNS defects among women are assessed to be ineffective in the Lower Silesia region and need urgent verification.

Objective: The aim of the study was to analyze the incidence of neural tube defects in Lublin Province between 1990 and 2000 after application of primary prevention with folic acid., Material and Methods: A total of 293,039 newborns were analyzed., Results: Neural tube defects were diagnosed in 53 newborns., Conclusion: Reduction of frequency of meningocele was shown after application of primary prevention with folic acid in 1998. Meningoceles were most frequent in 1992 (1.32/1000) and in 1998 frequency of these defects was reduced and in 2000 was down to 0.62/1000 births.

Neural Tube Defects (NTD) Primary Prevention Programme has been developed in Poland since 1997. The Programme directed by Professor Z. J. Brzezinski is based on an information and education campaign directed at health professionals, women in childbearing age and high school students. The Central Programme Office has been directing the development and implementation of the Programme through a network of provincial programmes. In the present paper the main principles of NTD primary prevention were presented as well as some principles of Programme building and evaluation. Due to the relatively short period of Programme implementation, it is too early to perform the full evaluation. However, some examples were presented including process evaluation and testing the main tools (questionnaires, school programme project). It was assumed that the effectiveness of NTD Primary Prevention Programme in Poland will be assessed by: 1) changes in women's knowledge, attitude and behaviour concerning folic acid supplementation, 2) changes in NTD mortality and morbidity rates, 3) changes in the amount of sold tablets containing 0.4 mg of folic acid. For each of these indicators some international results and Polish baseline results were discussed.

The present paper illustrates the authors 25-year experience in step by step approach to the definition of environmental and genetic background of neural tube defects. Based on the birth defects registry, a complete ascertainment of all deliveries was performed in Southern Poland during two period: 1970-1972, and 1979-1981. The birth prevalence of neural tube defects (NTD), as well as other CNS malformations was determined. The empiric recurrence risk was calculated as 3.2% +/- 1.6. Based on this figure, the relative risk (RR = 37.6 p < 0.001) and heritability (h2 = 74.7 +/- 6.7) were estimated. Our own modification of Morton's complex segregation analysis was applied. Three Mendelian (dominant, additive and recessive) and one multifactorial model were tested. The results did not provide a clear cut discrimination between different models; however the lowest 2 value was obtained for additive inheritance with 61% of penetrance and the frequency of sporadic cases equaled 55%. A search for genetic markers did not support the hypothesis that HLA-A,B,C loci are equivalents of T/t like locus in mice. The results of the study on transcobalamine levels in amniotic fluid may suggests that different transcobalamine metabolism reflects phenotypic expression of genetic susceptibility to NTD development. Current research and future perspectives on genetic and environmental background of NTD are also presented.

Central neural system congenital malformations in the form of neural tube defects (ntd) belong to the most common diseases leading to very serious childrens' disability and mortality. As it has been calculated, the number of children affected with ntd, delivered in Poland every year is in the range of 800-1150. Children with encephalocele participate in this number in app. 50%. As it has been found, morbidity and mortality caused by the ntd remain high and stable in Poland for the last 20 years. In the view of very limited possibilities of the treatment offered by health services, prophylactic measures remain the best methods for limitation of the problem. The primary prevention of ntd was discovered in late seventies. It has been found that folic acid added to the diet of women in the reproductive age reduced number of children born with ntd by 70%. Authors present the Programme of Primary Prevention of ntd in Poland. This Programme has been incorporated in the National Programme of Health for the Nation 1996-2005.

Incidence of neural tube defects in Poland in the 90's was 2.68 in 1000 births. The value of incidence has not been changed within last twenty years. Mortality caused by neural tube defects in Poland is much higher than in many other European countries and the United States. High rates of incidence of neural tube defects in Poland is probably caused by low utilisation of methods of secondary prevention in a group of low-risk pregnant women. Since methods of primary prevention of neural-tube defects are available; primary prevention with folic acid, should be immediately implemented in Poland.

Neural tube defects (ntd) remain unresolved therapeutic problems, even for contemporary health services. Prophylactic measures are the best methods for limitation of the problem. In many countries, the number of children born with ntd has been reduced significantly, even in 4-5 folds. Authors found that the situation in Poland remains stable since last 20 years. Epidemiological evaluation of the ntd morbidity in Poland is very difficult. There is no National Register of Inherited Defects. Authors observed and analysed mortality and hospitalisation due to ntd in Poland, in early ninetees, and compared these data with information originated from Regional (Wielkopolska) Inherited Defects Register. It was found that ntd mortality and hospitalisation in Wielkopolska was similar to average in Poland. It has been estimated that the rate of children born with ntd in Poland, in 1995 was 2.68 per 1000 live and stillbriths (in 1972-1974 was 2.04). Especially high rates of ntd's have been found in north-eastern part of Country. Incidence of ntd's was higher in rural, than in urban population of the Country.