Introduction: The 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is located on chromosome 1 at 1p36.3. MTHFR enzyme catalyzes the conversion of 5,10-methylene tetrahydrofolate into 5-methyltetrahydrofolate, which is the major circulating form of folate. Its deficiency results in insufficient methylation of crucial metabolites and direct toxicity of homocysteine, the two factors which have been suggested as possible mediators of teratogenesis. Objective: To find out the cause for neural tube defect and multiple congenital anomalies in the case under scrutiny. Materials & Methods: An anomalous female fetus of 37 weeks gestation, post demise, was procured from Department of Obstetrics & Gynaecology, Vydehi Institute of Medical Sciences & Research Centre. A written consent was taken from the parents. Mother had previous history of spontaneous abortion during 1st trimester. Blood samples of parents were taken for cytogenetic analysis, and to check for possible MTHFR gene mutations. The baby was then subjected to radiological investigations, CT & MRI, following which, it was dissected in the department of Anatomy after fixation in 10% formalin. Observations & Results: MTHFR gene mutation was detected, and this accounts for all the findings observed in the various investigatory modalities. Conclusion: To obtain high methylene tetrahydrofolate levels for an adequate homocysteine metabolism, individuals with a decreased MTHFR activity need a higher dietary intake of folate during the periconceptional period.
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