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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.

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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

Autosomal genetic polymorphism

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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