BACKGROUND: Homocysteine is a sulfur-containing, nonproteinogenic amino acid biosynthesized from methionine that takes a key place between the folate and activated methyl cycles. This amino acid is involved in cysteine biosynthetic pathway (transsulfuration), remethylation in methionine synthesis, transmethylation of DNA, proteins and lipids, biosynthesis of small hormonal and neuronal signaling molecules. Hyperhomocysteinemia has been associated with both folate and cobalamine deficiencies, and also with pregnancy complications (pre-eclampsia, spontaneus abortion, intrauterine growth restriction, birth defects), mental disorders, psoriasis and some tumors. Hyperhomocysteinemia is associated with the occurrence of congenital defects including failure of neural tube closure, conotruncal anomalies in the heart, and orofacial clefts. Congenital anomalies have become more important causes of infant morbidity and mortality since the prevalence rates of infectious diseases and nutritional problems during the childhood have decreased over the last decades.

OBJECTIVE: To measure the concentration of plasma total homocysteine in pregnant women of birth defects child. We aimed to estimate association between increased plasma homocysteine level and different kinds of congenital anomalies.

METHODS: Blood samples were collected into tubes containing heparin, immediately chilled in the ice and centrifuged. Samples prepared at the day of analyses. Total homocysteine was determined by high-performance liquid chromatography (HPLC) with fluorescence detection in both pregnant women of birth defects child (n = 102) and pregnant women with unaffected offspring (n = 52).

RESULTS: Plasma homocysteine was significantly higher in pregnant women with affected offspring compared with control group (p < 0.05). It was revealed in the cases of hydrocephalus, neural tube defects, Down’s syndrome, nuchal cystic hygroma and diaphragmal hernia. We found that homocysteine plasma concentration was higher in the cases of skeletal dysplasia, teratomas, kidney and lung polycystosis compared to control group but it was not significant. We failed to confirm role of homocysteine in genesis congenital heart defects and orofacial clefts.

CONCLUSION: Our data confirm role of homocysteine in genesis of some birth defects. Several hypotheses can be proposed to explain biological mechanisms through which elevated homocysteine level could cause birth defects. Homocysteine itself is embryo-toxic during the process of embryogenesis. Decreased levels of methionine due to a disturbed remethylation of homocysteine to methionine will result in decreased levels of S-adenosylmethionine and disturb embryogenesis by an inadequate gene methylation. We consider that it is necessary use estimation of plasma homocysteine in prenatal diagnostic.

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