Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.

  title={Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies.},
  author={Jorge Marquet and Bernadette Chadefaux and Jean Paul Bonnefont and Jean Marie Saudubray and Jacqueline Zittoun},
  journal={Prenatal diagnosis},
  volume={14 1},
Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was found to be heterozygous as confirmed by the enzymatic activity assay performed several times after birth. In the father, MTHFR activity was normal in lymphocytes and decreased in fibroblasts, whereas in the asymptomatic mother, the activity was not detectable in fibroblasts and was very low in lymphocytes… CONTINUE READING