Are your genetics preventing you from growing a baby?

Mary was 35 when she and her partner Tom were ready to start their family. At that time, she fell pregnant easily using IVF. Three years and thousands of nappies later, their little one is settled at nursery, and she and Tom are ready to do it all again.

This time though, they’ve been through two rounds of IVF, which haven’t been successful. Both times they were able to fall pregnant, but Mary miscarried early in both pregnancies – it had been an emotional rollercoaster for the couple.

They were ready for some extra help. So, they came to see naturopathic doctor, Dr Benita Perch who has a speciality in women’s reproductive health.

“When you’re looking at a problem with pregnancy, there are three factors you need to consider when trying to identify the cause,” Dr Benita explains.

“The first is egg and sperm quality. The second is whether the embryo is struggling to implant, and the third is a genetic issue like methylation which affects your ability to maintain the pregnancy. Because Mary was able to get pregnant, but miscarrying early on, we know this is the latter – a genetic issue affecting methylation.”

During pregnancy, the copying of genetic information occurs continuously and DNA is copied billions of times. Methylation and demethylation are the catalysts for the copying of DNA to be carried out effectively.

Why methylation is important

In order for DNA to be copied (a process also known as transcription) it must be unlocked. During methylation, methyl groups attach to DNA, preventing transcription from occurring. When demethylation occurs, those methyl groups are removed, and the DNA can be copied. After transcription occurs, the DNA is methylated again to regulate gene expression.

MTFHR genes control your ability to methylate and can affect your ability to demethylate, leaving some genes ‘locked’ in the demethylation process. Problems with the mother’s MTHFR gene can interfere with the early stages of transcription during a pregnancy.

Mary and Tom are not alone in facing genetic factors which contribute to infertility. Scientists estimate in 50% of infertility cases the cause is genetic. And mutations of the MTHFR are common too. It’s estimated that between 30 – 50% of the global population have some kind of variant. One of the most common variants is the C677T variant, which causes pregnancy issues. Research suggests that more people in the US have one or two copies of the C677T variant than those who don’t.

“In these instances, I turn to GrowBaby, a test which assesses the genes involved in maintaining a healthy pregnancy,” says Benita.

What Mary’s GrowBaby test revealed

GrowBaby is a test that explores the genetic factors that influence a healthy pregnancy, including methylation, detox, inflammation and your genetic ability to regulate stress, among other factors.

May’s results showed that she had variants of the MTHFR, MTFHD1, MTRR and PEMT genes.

As well as playing a key role during the transcription process, the MTHFR gene also governs your ability to absorb B vitamins, including folate (vitamin B9) and B12, both of which are crucial for the normal development of a baby. During pregnancy, folate plays a major role in cell division and the creation of DNA and new tissues. It’s particularly important in ensuring that a baby’s brain, skull and spine develop correctly.

Those with MTHFR mutations can’t absorb folic acid, instead they need folate (and all B vitamins) in their active forms. The prenatal Mary had been taking contained folic acid, rather than active forms like folinic acid or methyl folate. Dietary sources of folate are naturally active, but can be degraded by cooking and alcohol.

Mary’s MTFHD1 variant was contributing to her troubles with folate, as this variant can make it difficult to convert folate from her diet into the active form needed to support DNA synthesis.

Both the MTHFR and MTRR variants can cause excess levels of homocysteine – an amino acid which when elevated can cause cardiovascular and pregnancy issues. The MTRR gene is also responsible for supporting DNA synthesis and repair.

The PEMT gene gives the build instructions for an enzyme which creates phosphatidylcholine (PC). During pregnancy, the requirement of dietary PC increases to 450mg per day as choline is essential for the healthy development of a baby.

“Because of Mary’s MTFHD1 and PEMT variations, she needs more external sources of choline, methylfolate and methylB12 than the ordinary person, as they’re harder for her to synthesise and metabolise naturally,” says Benita.

Other results from her GrowBaby test showed that she had problems with her insulin sensitivity and secretion, which explained why Mary developed gestational diabetes during her first pregnancy. She also had vitamin D receptor issues, which can affect a baby’s development.

To check to what extent her genetic variations were already affecting Mary, Benita tested her red blood cell count, her folate levels, homocysteine and vitamin D. Her results confirmed that she was deficient in folate, vitamin D and had low levels of red blood cells, alongside elevated homocysteine.

Lifestyle changes

While you can’t change your genetics, there are adaptations you can make to your lifestyle to strengthen the genetic hand you were dealt.

Benita recommended Mary start eating eggs every day – a rich source of choline. She also recommended lots of leafy greens for folate, grass-fed lamb and beef for B12, cinnamon for blood sugar balance and getting adequate levels of vitamin D from sunlight.

Benita tested Mary several times throughout her pregnancy, checking her red blood cell count, folate, homocysteine and vitamin D. Benita also tracked her diabetic risk throughout pregnancy, testing insulin levels, glucose and HBA1C.

“Typically, testing is carried out much too late in pregnancy. In circumstances like Mary’s, it’s important to be vigilant, testing before pregnancy, at 12 weeks, 21 weeks and after pregnancy to check her health after she’s given birth,” says Benita.

Testing empowers couples looking to grow their family with the valuable insight they need about the genetic factors contributing to their struggles. This allows them to continue their  journey with more purpose and clarity.
 

References: 

1. M Zorrilla, A N Yatsenko, The genetics of infertility: current status of the field, 2013.
2. The Amoeba Sisters, Epigenetics, 2021.
3. Y Quanhe et al, Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults, 2012.
4. A Jaiswal et al, Choline supplementation in pregnancy: current evidence and implications, 2023.