What causes Down Syndrome?

I know you are searching for answers.


Do you have a child with Down Syndrome?

Or do you want to minimize the risk of having a child with Down Syndrome?

Either way, the information here may help.

I want to first state very clearly that there is no ‘defined mainstream way’ to reduce the risk of Down Syndrome except to have your child before the age of 40.

That’s about it.

It is also unacceptable.

Why is it that many, who are far younger than 40 years old, are still having children born with Down Syndrome?

First, let’s discuss some points which will help you if you have a child with Down Syndrome.

If you have a child with Down Syndrome, it is not because you did anything wrong.

It is because you did not have information which may have reduced the risk.

What I am presenting here is absolutely cutting edge information.

I have to share what I know.

My goal is to help. Please keep this in mind.

Last thing I want is you to feel anger or the need to blame someone – including yourself.

I want to empower you and create hope.

I want to create awareness and lasting change.

I want to reduce the known causes which lead to Down Syndrome.

I also want to help those with Down Syndrome.

Health professionals, at least all that I’ve talked with, and I’ve talked with thousands, do not know what causes Down Syndrome.

If health professionals don’t know, then how are you supposed to know?

If you have a child with Down Syndrome, there is a LOT you can do to keep them healthy and vibrant.

Here’s how.

A friend and colleague of mine, Dr Erica Peirson, runs a clinic devoted to children with Down Syndrome.

She’s by far the leading expert out there in Down Syndrome treatment. I encourage you to learn more about how she can help you and your child.

down syndrome treatment


My goal with you right now is to inform you what I believe causes Down Syndrome.

As with any condition or syndrome, there are many contributing factors. There is rarely just one.

Down Syndrome has many contributing factors.

How do we find out what they are?

I believe in research.

The U.S. National Library of Medicine is where I find my information on a daily basis.

I also look at genetic research.

Take a look at which genetic polymorphisms, some of which are very common, are known to cause Down Syndrome:


What is the most researched gene associated with what causes Down Syndrome?


That’s a big deal.

Let’s go a step deeper shall we?

How many of these top 10 researched genes are in the Folate pathway?

Four (4). MTHFR, RFC1, MTHFD1, SLCC19A1

We’re not done yet.

Let’s dig a bit deeper into another key pathway during pregnancy which is shown above to be contributing to Down Syndrome.

The Methylation cycle.


One of my sons has 6 out of 10 of these known genetic polymorphisms which are known to contribute to Down Syndrome.

He is doing very well.

So is it just genetics?

No. Definitely not.

Lifestyle, diet, mindset, environment, nutrition all play a major role here.

What causes Down Syndrome also has to do heavily with the genetics – and epigenetics – of the mother.

Again, it is not just genetics here as genetics are greatly affected by so many things – as mentioned above.

It is known that genetics are affected by lifestyle, environment, infections, diet and nutrition.

If this is the case, and it is, why aren’t health professionals digging into this and educating themselves what causes Down Syndrome??

They’re busy. They don’t have time.

I’ll give them that.

Now it is up to you to share them this article – which they cannot refute.

Here is some of the evidence, 94 published research papers, taken from the U.S. National Library of Medicine, using the term ‘MTHFR Down Syndrome‘:


Let’s get specific.

Breaking it down makes it easier to grasp and show what action must be taken.

A paper published just this month, September 2016, Maternal MTHFR polymorphism (677 C-T) and risk of Down’s syndrome child: meta-analysis, states:

what causes down syndrome

Here is what they found:


Now was it a well done meta-analysis? I think so.


When performing research, one has to limit variables.

It is not possible to have a ton of moving parts in research as that can skew the results. They did what they could.

We mentioned earlier that there are four (4) genes in the Folate Pathway which are heavily studied as a contributor to Down Syndrome.

What is the #1 recommendation for pregnant women across the globe?

Take folic acid.

Here lies the problem.

Folic acid has to bust through many barriers to actually become useful for the body.

These barriers are genes.

Many of these genes have issues.

Down Syndrome research is showing that four key genes in the folate pathway have issues.

What are the issues?

The issues are that the folate genes do not make 100% functional enzymes.

The enzymes produced by dysfunctional genes are slightly defective which slows their ability for one to convert folic acid into active usable folate!

Yet public health and health professionals are recommending folic acid?

They are recommending the very thing that has to bust through barriers in order to support active folate and methylation??

Yet it is known that both folate and methylation dysfunction contribute to Down Syndrome?


Big time.

Take a look:

Folic acid and Down Syndrome


Folic acid has to get through 8 genes in order to become the body’s #1 form of folate which is 5-MTHF.

Did you know that 5-MTHF is now readily available as a supplement?

Did you know that 5-MTHF has been readily available in leafy green vegetables since the dawn of time?

I ask, implore actually:

Why do health professionals and medical organizations recommend folic acid when 5-MTHF is readily available??!

It’s shocking.

There is no reason.

It needs to stop.

If you are looking to understand what causes Down Syndrome, I have actionable information for you:

  1. Don’t use folic acid.
  2. Eat natural folates found in leafy greens
  3. Use prenatal vitamins which have 5-MTHF and other active nutrients
  4. Check your homocysteine level prior to pregnancy and make sure it is around 6 to 10. Too low isn’t good and too high isn’t good.
  5. Read this article on MTHFR and Pregnancy.

How do you check to see what your genetics look like?

  1. Order a 23andMe test or AncestryDNA Research
  2. Once your results come back, run your raw data through StrateGene.

Here is what one of my son’s StrateGene report looks like – in his Folate Pathway:

MTHFR Genetic Report


As you can see, my son has slow downs in MTHFD1 and MTHFR along with SLC.

My wife did take folic acid during her pregnancies, as we didn’t know at the time it was the wrong thing to do.

She did eat salads often and her homocysteine levels were normal.

This goes to show you that even with genetic issues in key pathways, one can lead a ‘normal’ life.

The key here is to understand that one may have increased susceptibilities and this increases the need to take precautions.

Genetic testing is empowering. At least it should be.

Another key point is my wife does not have the MTHFR C677T homozygous genetic polymorphism.


Remember, many research papers are evaluating the genetics of the woman.

This is very important and why I greatly emphasize the need to prepare the future mother prior to pregnancy.

Long Term Solution to Support Pregnancy and Overall Health

Now that you realize that Down Syndrome may be actually a result of methylation dysfunction, I’d really like to see you get on a full program.

Reading my book, Dirty Genes, will help you immensely.

You’ll learn about MTHFR and methylation in depth, yes, but you’ll learn WAY more than that.

Empower yourself and take action the right way.

Dirty Genes is the guide you’ve been looking for.

It continues to be a bestseller month after month for good reason.

Dirty Genes book by Dr. Ben Lynch

You’ll see why once you pick it up and start reading 😉

Don’t like reading books? Want to get more in depth and see how it all ties together?
Get access to the Dirty Genes Course where I discuss how food, lifestyle, environment, mindset and genetics are influencing how you’re feeling – and how to deal with it all.

The Dirty Genes Course is where I bring in a lot of published research, translate it and make it actionable for you. It’s an extension of the book, Dirty Genes. There is a lot of science, biochemistry and actual examples of how to use this stuff in your daily life.

Is it going to be over your head in terms of difficulty?

Absolutely not.

You’ll learn a ton and you’ll be amazed how easy it is to implement what you learn.

Notify of

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Newest Most Voted
Inline Feedbacks
View all comments
7 years ago

Excellent post, well the Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21 mainly, thanks!

7 years ago

Hi Dr Lynch,
Thoughts on 22q.11 deletion (aka DiGeorge/Velo-cardio-facial) – cause of and how to supplement for an infant?

Our 4 week old daughter was diagnosed en utero with a congenital heart defect and then 22q after amniocentesis. She had heart surgery on day 2, and we’re still in the hospital working on getting home. Due to various complications, she just started getting breast milk (skimmed however and with monogen due to chylothorax), has had 3 courses of antibiotics, has had at least 1 chest X-ray each day of life/3 CT scans/1 MRI, and has been on a host of medications ranging from blood thinners to pain killers and anti-seizure meds, to heart function drugs like epinephrine. Early after surgery she had 3 seizures identified via eeg, and her MRI showed minimal brain damage – reportedly on par with 22q infants.

22q is second to Down syndrome in frequency – but thought to be considerably undiagnosed, often confused with autism spectrum – and also claimed to be “random”. Neither my husband nor I have the deletion, however we both have MTHFR variants, both heterozygous – he has one c677t and I have one A1298C. I took your prenatal before and during pregnancy and am still on it while breastfeeding; also took fermented cod liver oil; optimal pc and optimal fish oil; prescript assist; d3; mag + calcium before and during.

Given her diagnosis, want to do anything we can as soon as possible to lessen the impact of the challenges of her diagnosis: learning disabilities, social issues, mental illness, etc.

Thank you

Brittany Phillips
7 years ago

After my first child I had 3 miscarriages, followed by 2 more children, my seventh pregnancy resulted in my sweet daughter with Down Syndrome in addition to CAVSD/TOF and prenatal stroke causing brian damage, CP and a severe growth delay. I did the genetic testing recently specifically looking for a reason on why I have such horrible skin conditions, extreme sleep problems (insomnia, sleep walking/talking) severe anxiety, two small CVA’s (strokes) at ages 31 and 33 (first one happened during my 4th child pregnancy) and some other more personal issues.
My results are confusing and im looking for a doctor in my area to help me sort them out, but I thought you may be interested in adding my results to your research on Down Syndrome.

7 years ago

Hi Dr Lynch,
I studied your site and worked on my health for years before getting pregnant. I cleansed any heavy metals and completely changed my diet along with that of my husbands. I am heterozygous 667 and my husband compound heterozygous. We both supplement accordingly and have a doctor very well versed in mthfr and has studied under your guidance.

I took your prenatals and followed your protocol. We got pregnant the first month of trying and in the 12th week I was told our fetus had a very severe form of T21- Downs Syndrome. The doctors were convinced from the scans that it would be T12 or T18 due to the severity. The tests confirmed T21. Needless to say we had to decide what to do as everything that could possible be wrong, physically – was wrong. We terminated the pregnancy in the 15th week after much heartache. It was too much to bare that the baby would die in utero late stage or shortly after birth because of the physical defects which were incompatible with life. The possible suffering was too much too bare.

We did everything in our power to prepare for pregnancy. And had been doing so since 2011. I still firmly agree that what we did was correct and most defects and issues are from environmental factors including diet.

But I now also believe that sometimes, its just horribly bad genetic luck.

We are going to start trying again and still believe in excellent prenatal health. I have been taking the necessarily supplements and hope next time will work out just fine.

7 years ago
Reply to  Melissa

First off, a trisomy diagnosis should never be referred to as ‘bad luck” as u called it. Are their sometimes severe health issues terrifying to parents? Yes. BUT that does not condone the murder of your child! I was offered an abortion and refused! My daughter has DS and was born with THREE holes in her heart and they said she would live too age 3 without open heart surgery . A knife has never touched her and the Lord healed her and she is the most amazing thing that’s happened to my family. Under no circumstances should a child be killed bc of the possibility of a “poor quality of life” as it’s often called. Who are you to determine that for a child?! Innocent and helpless. Did u also know that 60% of the DS testing is a false positive?! And that women have murdered their perfectly healthy babies?! Parents are selfish not wanted to “deal” with the speacial needs of their child and use the excuse “I don’t want them to suffer” yet u think they enjoy being ripped to shreds and pulled apart inside of what’s supposed to be the safest place in their world?! Shame on you. You will forever have your child’s blood dripping from your hands!

7 years ago

Hi Dr. Lynch,
I’ve recently had 3 pregnancy losses- one ectopic, and 2 consecutive miscarriages. I’ve tested normally for all fertility testing (AMH, thrombophylia, antiphospholipid syndrome, all normal) except for Homozygous MTHFR C677T. My homocysteine recently was 6.4 (though this was tested after pregnancy). And, I had a karyotype done on the last miscarriage, which showed Trisomy 15.
My question is, does the methylation cycle affect all trisomies? Which specific factors can I look at to determine how well I am methylating at this point in preparation for another pregnancy? It seems clear from this article that methylation affects egg quality, and I would love to know how to measure my progress in preparing for a healthy pregnancy.
Thanks so much for this information and for your dedication to helping women like me,

7 years ago

Well, hate to say it — but according to another study o newborn children, Down Syndrome is not the most common chromosomal disorder — Nielsen & Wohlert, et. al( I’m not sure where the 1 in 1200 figure comes from — is this live births, or does it take into account aborted fetuses with Down Syndrome? Accord to Nielsen & Wohlert:


As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Arhus over a 13-year period. Klinefelter’s syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner’s syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11,637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down’s syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.”

7 years ago

And MTHFr A1298C homozigous and down? is there more risks?
I lost my baby with 18 weeks, and I’m afraid new pregnancy.
Thank’s, Dr.

7 years ago

Dr lynch, does giving a child with Ds and mitochondrial issues, high folinicacid acid, coq10 and triple b12 shots seem to be a worth treatment? My sons thyroid is doing pretty good now but his muscles are still weak. I suspect my husband and I have genes for poor muscle formation despite exercising. Any ideas on where to look.

7 years ago
Reply to  Sam

The COLV1A gene is overexpressed in Down Syndrome and is associated with poor collagen formation. Dixie lawrence, an expert in DS biochemistry discovered the addition of alpha ketoglutarate, proline, vitamin C and bioflavanoids improved the muscle tone of children with Down Syndrome. These ingredients have been added to Nutrivene, a supplement formulated for children with DS. I am a Naturopath treating people with DS via Targeted Nutritional Intervention, an approach which down regulates the over expressed genes to reduce inflammation and restore health.

5 years ago

Hello Dr. Lynch, and thanks for the article.

Our daughter was born with DS, my wife was 38 at the time. We ordered the 23andme and my wife does not have the mutation for MTHFR at all. However, I have the MTHFR C677T homozygous mutation.

Many articles I’ve read, suggest the mother take folate pre pregnancy. But, not one has mentioned the father should consider as well. Should I consider taking Folate for future pregnancy since I have the mutation?

Thanks, William

5 years ago

I have had 6 miscarriages and my last pregnancy was the one that spurred me into taking my own action with research. That pregnancy ended at 14 weeks and the baby had Down Syndrome – i am 30 yrs old so not in high risk category. I have other symptoms that fall into auto immune disease or PCOS categories but i am negative on the tests, all my bloods show is a slightly sluggish liver even though i drink very little. I did my own research after my doctor put me on 5mg of folic acid and i am visiting a FM practioner who is very knowledgeable on the MTHFR stuff (he even has your pathways poster!). so i have just sent off my 23andme test as I feel like maybe i have the MTHFR polymorphism. I am taking 850 mcg metafolin and also methylcolobamin B12. Ive started the Keto diet in order to remove all grains which may be fortified with folic acid and switching over to Organic as much as possible.

Do you know how long before i should start to TTC again?

I have read alot of your stuff and its so informative so thank you!

5 years ago

Hi Dr Lynch,

Thank you for all the information you provide. I recently got my Strategene report.

I am hetero MTHFR C677t, hetero MTHFD1 G1958A, hetero MTRR A66G, all known to increase Down Syndrome which affected my last pregnancy after 4 x RPL.

I am taking methylfolate 800-1200 mcg per day as well as activery B complex for b12. But is this enough to also overcome the MTRR gene in the colbalamin cycle? I don’t know if we should even be bothered trying to conceive.

5 years ago

hi Dr Lynch,

Thank you for your publishing. I had a stillborn son who as diagnosed to have Down Syndrome. I am now 13 week pregnant and unfortunately he is also being diagnosed to have DS. While everything suggest it is the age and egg quality issue, I can now tell you that, it has a very high probability due to MTHFR mutation.

A bit of background story: We were blessed with 2 perfect healthy girls. Our first pregnancy ended at 16 weeks, through scan it was found that she had Amniotic band syndrome. We then had another girl who as perfect. 3rd pregnancy ended in 38 week stillborn, post mortem result showed he had down syndrome. Subsequent pregnancy is another girl and she was again health. Last year, we decided to have another one. but it unfortunately ended at 5 weeks. We then tried and haven’t been successful. Saw a reflexologist and she believed in MTHFR so that is how I had the test done. Test result shows that I have Compound heterozgous A1298C + C677T MTHFR mutation.

All these time we have been told that it was because of our age but many women have had perfectly healthy children at a more advanced age. like you mentioned, these professionals simply don’t have time and can’t be bothered doing more research because they don’t care. My current obstetrician also support this view as well as natural Killer Cell (which I also have).

I guess I would like to find out further, if it is a compound mutation, is 800mcg of folinic acid sufficient?

4 years ago

Hi, I recently had an exposure to mercury through vacuuming up the broken pieces, of a long, fluorescent light bulb. Two days after the incident, I tested for mercury with a result of 37ug of mercury in my blood. Three weeks after the event, my levels were 5.8ug. I am 39 and am wondering if this heavy metal exposure will increase my chances for a down syndrome baby. What would you get that mercury level down to before conceiving, and do you also recommend that men also test for homocysteine levels before conceiving if over the age of 40? Thank you!

4 years ago

Hi Dr. Lynch,
Can “low homocysteine levels” cause down syndrome? I tested my homocysteine two months ago, and my level was 6.7 umol/L when taking 800 mcg of folate. I added your folinic acid lozenges because of reading about it on your website every other day on top of the prenatal with 800 mcg just to make sure I was getting enough folate/folinic acid, and my homocysteine levels have dropped to 4.4 umol/L. Is 4.4 umol/L an unsafe level to have before/during pregnancy, and it there a such thing as too much folate/folinic acid? Does low homocysteine interfere with oogenesis/cell meiosis?
Thank you!

4 years ago
Reply to  Dr. Ben Lynch

Thank you for the response Dr. Lynch. I was taking this folate in a prenatal plus your folinic acid in preparation for pregnancy and actually ended up having two periods 15 days apart instead of ovulation. The only thing that I can think that has caused this “double period” is that I was consuming two much folate/folinic acid and consuming too little protein, as you mentioned, which lowered my homocysteine level. I have been taking a break from the prenatal and folinic acid and eating much more protein, but I am now confused if I need to test my homocysteine before taking any more supplements, go ahead and start back on the prenatal containing the folate but without the added folinic acid, and/or take glutathione. How would you decide the next step? I have not tested for a MTHFR mutation, but as far as I know, I do not have one, but I do want to make sure my homocysteine, folate, and glutathione levels are optimal for pregnancy.

7 months ago

Dr. Lynch,

Thank you for your research. I happened to discover what the MTHFR mutation was via Tiktok, after watching videos related to autoimmune conditions. This information led me to an internet forum that explained how I could upload my 23&Me raw data, which then led me to find that I have a pretty rare (AA) homozygous C677T MTHFR mutation. My parents both struggled with 10 years of infertility before I was born, and my dad also had type 1 diabetes. My mother almost lost me during labor from a sudden, unexplained placental abruption (no maternal risk factors involved that would have led to this condition). The more I learn, the more it makes sense that they both had the MTHFR mutation and that it had a big impact on their lives.

This discovery also explains many of the autoimmune issues I’ve dealt with for most of my life. I purchased your book shortly after delving into it all of this more, close to a year ago. The moment I started taking the proper form of folate for my genetic mutation, it felt like a fog had been lifted. I even texted friends telling them it felt like I had taken a really effective anti-depressant!

I’ve also read the research that exists on the correlation between autism/Down’s and the MTHFR mutation. This is one of the reasons I started planning ahead. Six months prior to my husband and I starting our conception journey, I corrected my vitamin D and magnesium levels, started on Folinic acid (the form I tolerate best), once a day baby aspirin, Co-Q 10, and zinc. We also exchanged all the plastic food preparation and storage containers for glassware, eliminated toxic candles/air fresheners, exchanged personal hygiene products/feminine products for non-toxic options, cleaned up our diet, and do our best to avoid synthetic folic acid. We conceived within 3 1/2 months!

I have 4-5 friends I can think of of the top of my head that have been told they have MTHFR mutations from their doctor, but not until after recurrent miscarriages. In fact, a couple of those aforementioned friends couldn’t even conceive at all without ART (assistive reproductive technology). I truly wonder how many people we put on IVF who really just have a severely untreated MTHFR gene mutation.

It’s also important to mention, I am a mid-level healthcare professional. We see you – we hear you. There are those of us out there trying to continuously spread the word about conditions like this, far and wide! I hope people can become more aware of just how impactful the MTHFR mutation can be. From the moment I learned about it, I haven’t stopped trying to educate everyone on this condition and/or referring them to your “Dirty Genes” book.

MTHFR? This Course is For You

MTHFR? This Course is For You

Listen to Dirty Genes on Audible

Would love your thoughts, please comment.x