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January 08, 2019 4 min read

Close-Up of Different Vitamins

Along with January marking a New Year, it’s alsoNational Birth Defect Prevention Month. For moms trying to conceive or expecting mothers, sometimes birth defects can be hereditary, and there’s very little that can be done. What we can control is how much we educate ourselves in learning ways to circumvent complications during birth and potentially prevent birth defects.

Baby Held by Mother

What Causes Birth Defects?

On average one in 33 babies is born with a birth defect, which means that every 4.5 minutes a baby is born with a birth defect, totaling 120,000 babies annually. During the first three months in pregnancy is when birth defects tend to form. Unless the birth defect is something like fetal alcohol syndrome, where it’s directly caused by alcohol consumption, there isn’t a clear one.

According to theCenter For Disease Control (CDC), the specific cause of a birth defect can be ambiguous:

“For most birth defects, we think they are caused by a complex mix of factors. These factors include our genes (information inherited from our parents), our behaviors, and things in the environment. But, we don’t fully understand how these factors might work together to cause birth defects.”

Being an older mother, typically over the age of 34, tends to carry a higher risk factor because women are born with all of the eggs she’s meant to have. So, as a woman ages her eggs decrease in number as well as in quality. Eggs in older women tend to have more chromosome abnormalities.


Better health is usually a New Year plan, though it should also be considered in birth defect prevention. Taking prenatal vitamins is important, especially ones that contain folic acid. Studies show that folic acid, a B vitamin, helps to prevent brain and spinal related birth defects. But there’s something all moms should know, that some women and men aren’t able to absorb folic acid.

MTHFR Gene Mutation

If you haven’t already heard of this mutation, it’s common and can cause issues in terms of folic acid absorption. There are two different MTHFR variants of this mutation,CS7TT and A1298C. Around 30 to 40 percent of Americans have MTHFR - CS7TT variant of the mutation and 20 percent have the A1298C variant of the mutation.MTHFR is short for methylenetetrahydrofolate reductase, it’s an enzyme that helps to break down amino acids and converts folic acid so that it can be used by the body. Folic acid is then broken down into folate.

Once the MTHFR mutation prevents the breakdown, the body lacks folate, which is responsible for detoxifying toxins plus preventing birth defects. Here’s an extensivelist of how the MTHFR mutation can negatively impact the body. The biggest thing if a woman trying to get pregnant has the MTHFR mutation, her body will be unable to process folic acid. This can cause miscarriages and if the baby is born there’s a higher risk of autism, down syndrome, and cleft lip if mom has the MTHFR mutation. Plus,studies show a depletion of folate can cause neural tube and a congenital heart defect.

Folate vs. Folic Acid

Folic acid is actually a synthetic form of B9, which is often added to processed foods like flour and cereals. On the other hand, folate is a natural form of B9. The active form of B9 is called L-methylfolate. It’s considered a metabolically active form of folic acid and best for women with the MTHFR mutation that can’t absorb folic acid properly. L-methylfolate is a more pure and natural form of B9, which is highly recommended for women trying to conceive.

Screening and Consulting with Your Health Care Professional

Expecting mothers or women trying to conceive have very little control over unexplained birth defects especially if it doesn’t run in the family. Mom and Dad can be screened to determine if they’re genetic carriers for any chromosome abnormalities or birth defects. As medical professionals state, if the screening comes back negative, then any sort of birth defect thereafter is likely random.

The one thing all mothers do have control over is what she puts into her body to impact the fetus. Taking prenatal vitamins in conjunction with additional folic acid is highly recommended by health professionals. Women trying to conceive who have the MTHFR mutation should especially take additional folate (L-methylfolate). All expecting moms or women trying to conceive should consult with their doctor to determine if folate or the standard folic acid is right for you.

Babies with Birth Defects

With technological advances, most birth defects are able to be detected while baby is still inside the womb. Sometimes medical preventative measures can be taken during the gestational period and other times medical help and surgeries can come after birth. The range of birth defects can be mild to severe but children who are born with birth defects can otherwise live very healthy, successful and fulfilling lives.


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