Nutritional deficiency and MTHFR gene polymorphism in obstetrics

Abstract

: This study was carried out to determine the association of folic acid deficiency, vitamin B12 deficiency, hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with obstetrical events linked to folic acid deficiency like neural tube defects (NTD); unexplained abruption placentae (AP), recurrent pregnancy loss (RPL) and preterm labour(PTL).: In the present study 87 pregnant females with past or present history of either neural tube defect (NTD), abruptio placentae, recurrent pregnancy loss (RPL) or preterm labour and 100 pregnant females without any such history were enrolled. Serum levels of folic acid, vitamin B12 and homocysteine in these females were estimated using chemiluminescence and Polyacrylamide gel electrophoresis (PAGE) was used to detect MTHFR gene polymorphism.: No significant association was observed between serum folic acid levels and NTD (p = 0.495), RPL (p = 0.832) or preterm labour (p = 0.724). However, folic acid deficiency had significant association with the occurrence of abruptio placenta (p = 0.001). Serum vit B12 deficiency was found to be a significant risk factor only in patients with RPL. Increased homocysteine revealed significant association with RPL (p= 0.024), abruption placentae (p=0.002) and preterm labour (0.015). No polymorphism in MTHFR gene could be revealed in the above pregnancy complications.: In the present study, deficiency of folic acid was uncommon probably due to its routine supplementation throughout the first trimester. However, preconceptional folic acid supplementation still needs to be emphasized to build up adequate folic acid levels required during embryogenesis. The relationship between vit B12 and RPL needs studies on larger number to establish the association before supplementation is suggested. MTHFR677 gene polymorphism may have remained undetected due to small sample size.