method for differential diagnostics of congenital defects of the fetal neurotubule

摘要

A method for differential diagnostics of congenital defects of the fetal neurotubule wherein the level of folic acid in blood serum and red corpuscles is investigated, genetic analysis of folate cycle genes - methylenetetrahydrofolatereductase (MTHFR), methylenetetrahydrofolatedehydrogenase (MTHFD1), methionine-synthase-reductase (MTRR), cystathione-synthetase (CBS) genes is carried out and at revealing of deficiency blood folates- folic acid level in serum whey up to 5.9 ng/l and in red corpuscles up to 9.9 ng/ml, and also at the presence of gene polymorphism of folate cycle the folate-depending mechanism of development of congenital defect of the fetal neurotubule is stated, and in the case of normal level of blood folates and intact ability of folate cycle genes the independence of disorders of development of the central nervous system of the fetus from the folate metabolism is diagnosed.