ABSTRACT

Aim

Exact etiology of multifactorial anencephaly is still unclear. For a better understanding of the etiology, we sought to determine serum levels of folate and vitamin B12 as well as genetic variations including Factor V Leiden, Factor II g.20210G>A, MTHFR c.667C>T and MTHFR c.1298A>C in pregnant Turkish women with fetal anencephaly, and healthy pregnant women to point out significant differences.

Material-Methods

We compared the concentration of serum folate, vitamin B12 and genotype related with Factor V Leiden (FVL), Factor II (FII) G20210A, MTHFR C667T and MTHFR A1298C variations in 10 pregnant mothers with fetal anencephaly, and 32 mothers with healthy pregnancies. Gene polymorphisms were genotyped using Real-Time PCR.

Results

We found a significant difference in serum folate concentrations and MTHFR A1298C genotypes between groups. However, serum B12 vitamin concentrations and Factor V Leiden, Factor II G20210A, and MTHFR C667T genotypes were not significantly different in mothers with fetal anencephaly, compared to controls.

Conclusion

Low maternal folate level is a known factor in the development of anencephaly and neural tube defects. Studies indicating an association with MTHFR gene polymorphisms are also present. We have determined that the lack of folic acid plays an important role in the etiology of anencephaly, however other factors are not significant. We believe that more research is needed as the etiology of anencephaly is still not fully understood.