Correlation of Hyperhomocystenemia and Neural Tube Defect: A Hospital Based Pilot Study

Hyperhomocystenemia has been found a clearcut association and significant factor for various adult vascular abnormalities. (1) But very little known in Indian studies about it effects on the anatomical development of embryonic resulting into neural tube defect. Various conflicting reports have been reported. It has been reported in some western literature that Hyperhomocystenemia is prevalent in 1:70 in general population. (2) But in our country there is no systematic epidemiological study hence there is no significant data available. Considering the high incidence of birth defects in new born and huge number of pregnant women will expose their to be born children to the consequence of elevated level of homocysteine. Considering he above facts we have conducted a pilot study in our hospital to find out the impact of high homocysteine level on the anatomical development of embryonic tissues resulting into neural tube defect. Alterations in maternal folate and homocysteine metabolism are associated with neural tube defects (NTDs). But the role that specific micronutrients and metabolites play in the causal pathway leading to NTDs is not fully understood.

Our hospital where approximately 25 delivaries take in a day. We measured in a hospital -based sample of women who had NTD-affected pregnancies (n = 4) and a control group of women who had a pregnancy unaffected by a birth defect (n = 16). Plasma concentrations of folate, Vitamin B12, homocysteine, were compared between cases and controls after adjusting for lifestyle and sociodemographic factors. The level of folate, Vitamin B12, homocysteine by Abbot AxSYM immunochemistry analyser by fluorescent polarization technique. Fasting blood samples were collected into EDTA-Vacutainer tubes and immediately chilled on ice before centrifuging at 4000 × g for 10 minutes at 4°C to obtain blood plasma. Plasma aliquots were transferred into cryostat tubes and stored until quantification. Plasma folic acid and vitamin B12 concentrations were measured using immunoassay kit from Abbot. The methods to measure the other biomarkers and metabolites in the folate/homocysteine/glutathione pathway in our study have been described in various Indian and international Journals.