Neural tube defects belong to the most serious birth defects. Comparing to the past – thanks to the possibilities of modern neurosurgery – the number of surviving children significantly increases – although frequent morbidity and variable degree of permanent deficiency (sensomotoric, autonomous or mental) are present in majority of patients. Authors discuss present knowledge about etiopathogenesis of these multifactorial birth defects (genetic factors – polymorfisms of genes regulating folat and homocystein metabolism, transcription factors and signalling proteins, as well as environmental factors) with the emphasis on existing possibilities of prevention – sufficient daily intake of folat in all women in childbearing age and elimination of risk moments.

        Key words: neural tube defects, etiopathogenesis, gene polymorphisms, MTHFR, folat, homocystein, prevention