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Iswarya Fertility Centre & Women's Hospital
General

MTHFR Mutation and Fertility

MTHFR C677T and A1298C polymorphisms reduce folate metabolism efficiency. Associated with elevated homocysteine, recurrent pregnancy loss, and neural tube defect risk.

Overview

Overview

MTHFR C677T and A1298C polymorphisms reduce folate metabolism efficiency. Associated with elevated homocysteine, recurrent pregnancy loss, and neural tube defect risk.

Symptoms

Recurrent miscarriage
Neural tube defects in offspring
Elevated homocysteine
Recurrent implantation failure

Causes

1
Autosomal genetic polymorphism
2
Interacts with folate intake and other thrombophilic factors

How It's Diagnosed

MTHFR gene mutation testing
Serum homocysteine
Folate and B12 levels

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