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Ronnie Falcao, LM MS, a homebirth midwife in Mountain View, CA

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Learning About Your DNA and Childbearing


Easy Steps to a Safer Pregnancy - View e-book or Download PDF - FREE!
An interactive resource for moms on easy steps they can take to reduce exposure to chemical toxins during pregnancy.

Other excellent resources about avoiding toxins during pregnancy

These are easy to read and understand and are beautifully presented.


Subsections on this page:



Resources




If you have methylation issues or don't know your methylation status, it's particularly important during pregnancy to make sure that you're getting the bioactive forms of supplements.  In addition, it's important to avoid the inactive forms because they can block receptors for many days.  Be warned that many processed foods, including mainstream breads, are supplemented with inactive folic acid, sometimes also called folate.

As a general recommendation for most women, good prenatal vitamins with bioactive forms of B9 (folate) and B12 are available from Thorne (Basic Prenatal). Their Vitamin B6 is provided as pyridoxal 5-phosphate, the bioactive form of B6, instead of the more common Pyridoxine HCl form which sometimes cannot be converted into P-5-P in cases of nutritional inadequacies, certain medications, compromised liver function, and enzyme defects.

I used to recommend the Metagenics (Wellness Essentials® Pregnancy or Fem Prenatal®).  Unfortunately, the Metagenics formulas have inactive Vitamin B6 from pyridoxine HCl, which can contribute to the nausea of pregnancy.

You can get the biologically active forms of B vitamins from Thorne's Methyl-Guard Plus®:
Riboflavin (as Riboflavin 5'-Phosphate Sodium) 90 mg
Vitamin B6 (as Pyridoxal 5'-Phosphate) 45 mg
Folate (as L-5-Methyltetrahydrofolate from L-5-Methyltetrahydrofolic Acid, Glucosamine Salt) 3 mg
Vitamin B12 (as Methylcobalamin) 3 mg

Biologically Active Forms


Levomefolic acid (INN) (also known as 5-MTHF, L-methylfolate and 5-methyltetrahydrofolate and (6S)-5-methyltetrahydrofolate, and (6S)-5-MTHF) is the primary biologically active form of folic acid
Calcium folinate (also called, Folinic acid or called 5-formyltetrahydrofolate) [The bio-inactive C-6 isomer, [6R]-5-formyl-tetrahydrofolate (5-HCO-H4F), is not found in Nature. An oral dose of 13.5µmol of [6R]-5-HCO-H4F in humans results in the appearance of the naturally occurring [6S]-5-methyl-tetrahydrofolate and relatively large amounts of other bioactive folates in plasma. from Biochemical Journal.]


Riboflavin 5'-Phosphate Sodium (Vitamin B2)

Vitamin B6 (as Pyridoxal 5'-Phosphate)

Vitamin B12 (as Methylcobalamin or Adenosylcobalamin).  Methylcobalamin and adenosylcobalamin have different functions thus providing a total solution when combined for those with B12 deficiency.  They are both natural.. [Information from seekinghealth.com]

Inactive Forms


Folic Acid, possible anything labeled just Folate

Vitamin B6 (as Pyridoxine HCl)

Vitamin B12 (as Cyanocobalamin or Hydroxocobalamin) - Hydroxocobalamin is a natural form of B12 but is not bioactive; it requires methylation so it not a good choice for those who have methylation or neurological dysfunction.  Cyanocobalamin is synthetic and requires methylation to be utilized and eliminated from the body.



Excessive Folate, B12 in Pregnancy Dramatically Ups Autism Risk [3/12/16] - Excessive levels of plasma folate and vitamin B12 during pregnancy have been linked to a dramatic increase in autism risk in offspring, new research shows.   . . . Dr Fallin said that the team was not able to determine whether excessive plasma folate and vitamin B12 levels corresponded to a certain level of intake of both supplements during pregnancy.

[ED: This provides a helpful direction for more focused research.  It seems there may be a common cause between high folate levels in pregnant women and autism in their children.  I posit that the common cause is problems with their methylation genes. Women with genetic methylation problems will run higher levels of serum folate and B12 because their bodies can't clear it.  Even though their serum levels are high, they may actually be deficient in the bioactive forms which can get into the cells.  There's an increased likelihood that their children will also have genetic methylation problems, which affects their ability to clear environmental toxins, which could cause neurological damage leading to autism.  Similar research would benefit significantly from looking at the MTHFR genes of study participants and their children.]


I haven't been able to verify this, but I read that stork bites are also likely signs of midline defects related to MTHFR.


 Getting Your DNA Tested




I believe that knowledge is power and that our intelligence allows us to use knowledge to save ourselves untold miseries.  For example, some people have an unfortunate gene that causes myopathy (including unreversible muscle degeneration); simply knowing this allows you to avoid statins or modify your use.  Most pregnant women already have their DNA tested to see if they carry the gene for cystic fibrosis, and couples in certain demographics may have their DNA tested to assess their risks of creating a child with a severe, life-threatening condition.  Reproductive technologies can help couples to make sure they pass on a good gene to their baby.

In addition to some of the major mutations, there are also less obvious mutations that affect the way your body processes your prenatal vitamins.  For about 10% of women, their prenatal vitamins may actually INCREASE their risk of having a baby with tongue tie or other midline defects.  This is how the issue of DNA testing and the MTHFR gene came to the attention of midwives; a baby with a tongue tie cannot nurse well, causing untold miseries for the mother and baby; surgical correction may be an option, but it can be expensive, very difficult, and may not work well.

Most women who have reached childbearing age will not have any major surprises if they get a full DNA analysis.  Still, some women I talk to "don't want to know".

So, it's important for you to know that you can just have your MTHFR gene tested, or you can have your full DNA analyzed but only get a methylation report, including your MTHFR gene status.



23AndMe offers a provider program, which includes a complimentary kit for the provider, herself.  23AndMe provides raw data that can be interpreted at other sites:

Genetic Genie - Methylation and detox analysis from 23andMe results

MTHFR Support offers a Pregnancy Forum and Find A Practitioner feature.


I really like the comprehensive methylation report from Genetic Genie, and I also really enjoyed the tons of information I got from Promethease.com, offering medical interpretation of the results from 23AndMe.  I also like their extensive list of prenatal screens for genetic diseases.  But they've recently raised their price to around $200.  (You can get a discount for group purchases.)  There is a less expensive alternative that just looks at a couple of pairs in the MTHFR gene: 677 and 1298; this is available from SpectraCell Laboratories; I've heard the cost is $40.


MTHFR from pointofreturn.com - This is a nice explanation of MTHFR issues, and they list four different places that will give methylation reports from the 23AndMe raw data.



MTHFR and Tongue Tie




See also: Tongue Tie and Lip Tie

MTHFR Gene Mutations: A Beginner’s Guide

Find a Doctor who can help with  MTHFR issues.  Increasingly, midwives seem to be more aware of the MTHFR issue because of the association with tongue tie and breastfeeding issues.  So you might be able to find a midwife locally who can help guide you through testing and adjusting your diet and supplements.  The editor of these web pages is available for phone consulting to provide you with relevant information - contact Ronnie Falcao, LM MS CPM.



The MTHFR Gene Mutation And How To Rewire Your Genetics - The Bulletproof Executive has an excellent explanation of MTHFR issues.


Preparing For Pregnancy With MTHFR Mutations from mthfrliving.com


Folic Acid and Folate Facts and Fallacies - synthetic folic acid isn't absorbed well.  The natural form is folate or L-5 methyltetrahydrofolate.


The little known (but crucial) difference between folate and folic acid [3/9/12] from Chris Kresser's blog

The form of folate that can enter the main folate metabolic cycle is tetrahydrofolate (THF). (2) Unlike natural folates, which are metabolized to THF in the mucosa of the small intestine, folic acid undergoes initial reduction and methylation in the liver, where conversion to the THF form requires dihydrofolate reductase. The low activity of this enzyme in the human liver, combined with a high intake of folic acid, may result in unnatural levels of unmetabolized folic acid entering the systemic circulation.

In his lectures, Dr Neil Rawlins implies that for some people with methylation problems, even natural folate may not be assimilable.  He says that berries are the only natural foods that contain the form that can be assimilated by those with the worst methylation problems.


When people have the MTHFR gene mutation, they do not turn folic acid into folate. In addition, the folic acid plugs the receptor sites in cells with an unusable form for these people. With the unusable folic acid in the receptor cites, the body is prevented from being able to use the folate that they do consume through natural food.

Folate vs Folic Acid, MTHFR, and Why I Regret Taking My Prenatal Vitamin - Here's another version of Cara's web page on folic acid; it's a very accessible discussion of why synthetic folic acid causes problems for some women.


Methylation Resources


Dr Neil Rawlins - MTHFR - Sept 2011 - One-hour YouTube video about the methylation genes and recommended supplements.  Great Start Video!

About the MTHFR gene from the NIH's Genetics Home Reference



Folic Acid and Folate Facts and Fallacies - synthetic folic acid is thought to cause cancer and may contribute to asthma in children.  The natural form is folate or L-5 methyltetrahydrofolate.

And, most importantly, an estimated 33 % of people are genetically deficient in the enzyme that converts synthetic folic acid form for it to be used by your body.

So, pregnant mamas, make sure you're getting natural folate, either through better supplements or through superior nutrition.


Any synthetic folic acid in your diet or supplements actually blocks the absorption of natural folate, thus compounding the problem.  Synthetic folic acid is common in prenatal vitamins, many multivitamins and processed foods.


Dr Ghaheri believes that ties form at around gestation week 12-13, not super early as once thought. So it might not be too late to prevent a tongue tie in your baby.



MTHFR and Hyperemesis




People with a double defective MTHFR C677T gene combination will not be able to metabolize the usual (inactive) form of vitamin B6, which is pyridoxine HCl.  This also means that pharmaceutical combinations such as Diclegis and Dilectin also will not be helpful.  They could theoretically make the hyperemesis worse by blocking receptors for the active form.

The active form of vitamin B 6 is pyridoxal 5'-phosphate, which is contained in Thorne's Methyl-Guard Plus.

Anyone with hyperemesis would do well to get their genes tested to see if this is an issue for you, or just switch to Thorne's Methyl-Guard Plus and stop taking inactive forms of the B vitamins.


Dr Ghaheri believes that ties form at around gestation week 12-13, not super early as once thought. So it might not be too late to prevent a tongue tie in your baby.



MTHFR and Vaccination Reactions




Genetic basis for adverse events after smallpox vaccination. [full text]
Reif DM1, McKinney BA, Motsinger AA, Chanock SJ, Edwards KM, Rock MT, Moore JH, Crowe JE.
J Infect Dis. 2008 Jul 1;198(1):16-22. doi: 10.1086/588670.

Identifying genetic factors associated with the development of adverse events might allow screening before vaccinia virus administration. Two independent clinical trials of the smallpox vaccine (Aventis Pasteur) were conducted in healthy, vaccinia virus-naive adult volunteers. Volunteers were assessed repeatedly for local and systemic adverse events (AEs) associated with the receipt of vaccine and underwent genotyping for 1,442 singlenucleotide polymorphisms (SNPs). In the first study, 36 SNPs in 26 genes were associated with systemic AEs (P <or= .05); these 26 genes were tested in the second study. In the final analysis, 3 SNPs were consistently associated with AEs in both studies. The presence of a nonsynonymous SNP in the methylenetetrahydrofolate reductase (MTHFR)gene was associated with the risk ofAEin both trials (odds ratio [OR], 2.3 [95% confidence interval {CI}, 1.1-5.2] [P = .04] and OR, 4.1 [95% CI, 1.4 -11.4] [P<.01]). Two SNPs in the interferon regulatory factor-1 (IRF1) gene were associated with the risk of AE in both sample sets (OR, 3.2 [95% CI, 1.1-9.8] [P = .03] andOR, 3.0 [95% CI, 1.1- 8.3] [P = .03]). Genetic polymorphisms in genes expressing an enzyme previously associated with adverse reactions to a variety of pharmacologic agents (MTHFR) and an immunological transcription factor (IRF1) were associated with AEs after smallpox vaccination in 2 independent study samples.



MTHFR and Newborn Screening




In the California Newborn Screening's list of Disorders Detectable by NBS Program as of January 1, 2012, they include  remethylation defects (MTHFR, MTR, MTRR, Cbl D v1, Cbl G deficiencies) .

The Newborn Screen is not a genetic test of the MTHFR gene.  Instead, it measures chemicals in the baby's blood that would indicate very severe problems with remethylation.  The rate of babies identified by this specific tests is only 0.27%, whereas the genetic average for people with homozygous defects is closer to 10%.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. [full text]
Huemer M1,2,3, Kožich V4, Rinaldo P5, Baumgartner MR6,7, Merinero B8, Pasquini E9, Ribes A10, Blom HJ11.
J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12.

Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency. These conditions can be screened in dried blood spots by determining methionine (Met), methionine-to-phenylanine (Met/Phe) ratio, and total homocysteine (tHcy) as a second tier marker. Therefore, we recommend NBS for cystathionine beta-synthase and severe MTHFR deficiency. Weaker evidence is available for the disorders of intracellular cobalamin metabolism. Early treatment is clearly of advantage for patients with the late-onset cblC defect. In the early-onset type, survival and non-neurological symptoms improve but the effect on neurocognitive development is uncertain. The cblC defect can be screened by measuring propionylcarnitine, propionylcarnitine-to-acetylcarnitine ratio combined with the second tier markers methylmalonic acid and tHcy. For the cblE and cblG defects, evidence for the benefit of early treatment is weaker; and data on performance of Met, Met/Phe and tHcy even more limited. Individuals homozygous or compound heterozygous for MAT1A mutations may benefit from detection by NBS using Met, which on the other hand also detects asymptomatic heterozygotes. Clinical and laboratory data is insufficient to develop any recommendation on NBS for the cblD, cblF, cblJ defects, glycineN-methyltransferase-, S-adenosylhomocysteinehydrolase- and adenosine kinase deficiency.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
[full text]
Tortorelli S1, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK.
J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

RESULTS: A total of 86 333 NBS samples were tested between January 2007 and March 2008, and 233 of them (0.27%) met the criteria for second-tier testing of tHcy.





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