Papas Get Tested, Too!

I want my arsenal to be jam packed and overflowing when I see the next batch of specialists, so I’ve been researching again. I came across an eye opening article posted by Dr. Ben, “Heterozygous A1298C OR Heterozygous C677T MTHFR Mutation and Recurrent Pregnancy Loss? Consider This”. In it, he talks about the importance of having fathers tested for MTHFR mutations as well. This idea occurred to him while questioning why some women with heterozygous mutations and normal homocysteine levels (like me) suffer from recurrent miscarriages, even though they are told that the mutation is common and carries little to no risk. His answer is that since a baby develops from two sets of genes, the father could carry a MTHFR genetic mutation as well, leading to a more harmful form of either heterozygous or homozygous mutation in the baby.  My brain went DING! This goes back to Biology class — Punnett squares, recessive vs. dominant traits, the probability of blue eyes vs. brown eyes. Dr. Ben posted a diagram, for all us visual learners, that breaks it all down:

Dr. Ben, MTHFR.net

In essence, a father who carries the genetic mutation as well increases the chance that the baby can be compound heterozygous, homozygous, or compound homozygous. Any of these combinations can lead to decreased functionality of the gene, chromosomal abnormalities in the fetus, inhibited fetal growth, and/or miscarriage/stillbirth. Check out the article to read more.