Maychuk V. Substantiation of a differentiated approach to primary prevention of spinal dizraphia in children

The aim of the study was to substantiate the differentiated approach to primary prevention of spinal dizraphia in children. This was investigated by forming risk groups on the basis of risk factors, clinical, biochemical and molecular genetic markers of folate cycle violation. The reduction in the incidence of children born with congenital malformations of the CNS of nearly 2 times during a 14-year period. But a reduction in the frequency of children born with severe spinal disraphia has not been achieved. Risk factors that increase chances for having child with NTD for women of childbearing age are: burdened obstetrical history -to 3.4 times; family history of stroke, heart attack, varicose disease, thrombosis - to 3.04 times, cancer pathology of the gastrointestinal tract and / or reproductive system - to 2.9 times; family history of congenital malformations - to 3.9 times; congenital malformations in other children in this family - to 4.36 times. The heterozygous mutated subjects in both A1298C and C677T polymorphisms of MTHFR gene have 10.8 fold risk of having a child with NTD (CI 7,1-16,5). It is advisable to motivate women from high risk groups to consult a specialist in medical genetics and / or family planning for further investigation. The individual risk should be considered and the appropriate prophylactic dose of folic acid determined according to homocysteine level and MTHFR polymorphisms assessment.