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1227139 tn?1462338230
MTHFR and Down syndrome (and it's relationship)
I need to share this information because it seems to be relevant and very important to me and might be for others here in this group.  Since I was recently genetically diagnosed as having MTHFR, I learned that this genetic mutation has a relationship to having a child with Down syndrome as some of you may already know I have.

For those who do not know what MTHFR is, it's long scientific name is: Methylenetetrahydrofolate reductase, and it is a genetic variant or mutation that happens in the 1st chromosome.  It is said to be rare, but is known to occur to about 30% (from 15-45%) of the population - which is seemingly not so rare....  The reason why this is important to me and might be to some of you other moms is because it is said that if you have this mutation, you likely will suffer miscarriages and it increases the possibility of having a child with Down syndrome or other chromosomal abnormalities and Neural Tube defects such as Spina Bifida.

After having Hunter, and then 3 subsequent miscarriages trying to have a second child, I was tested for this mutation, by my request.  (There are 24 known variants but two that are most common.)  I have spoken to a few moms who do have children with Ds and it was surprising to me that they too had MTHFR.  Independent to this genetic mutation, there are plenty of studies that suggest a lack of Folic Acid or having high homocysteine levels can contribute to having a child with Ds, so it wasn't a stretch to read and believe that this genetic mutation (which inhibits the absorption of Folic Acid) had been linked to Ds.  Now, there is a lot of controversy regarding and surrounding this genetic mutation simply because it doesn't appear to affect everyone in the same way or be able to be reliably treated to prevent it.  So, because of that, many doctors have varying schools of thought on the mutation, it's relevancy to miscarriage, Ds and treatments.  The one correlating factor that seems to be proven is that the genetic mutation itself does actually inhibit Folic Acid absorption and high levels of Homocysteine.   There are several studies out there that share opinions on both sides and even some sides that seem very far out there.

IF you search (google) MTHFR you will find a lot of info out there regarding it, but if you search MTHFR & Down syndrome you will see what I mean.  It's become a curious thing for me and so I thought it was important to post this and ask.  There are other forums out there on different websites that actually have a group for MTHFR and you might be surprised to know that a few moms on there have babies with Ds (that would say so).

I found the most interesting article written by a doctor that confirms the relationship between MTHFR (the variant I have and Down sydnrome) here:  http://www.healthline.com/blogs/pregnancy_childbirth/2007/05/down-syndrome-and-folate-metabolism.html

Tell me what you all think about this?  And if it helps you to decide if you will proceed with prenatal testing knowing this if you choose to become pregnant.
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