Intensified prenatal testing urgently needed to bring cases of Down syndrome to nil


Note: study’s authors are not related to Prevention Genetics

American researchers identify “urgent global opportunities to prevent birth defects.” Guess what is included in the list of birth defects to be prevented (and how)?

Vijaya Kancherla, Godfrey Oakley, Jr., and Robert L. Brent published their survey of birth defects prevention methods and the opportunities to apply them globally. Why? Because:

Birth defects are one of the leading causes of infant mortality in the world … . Their impact is immeasurable, having life-long health and economic implications for the affected individual, the family , and society.

This is regrettable, in the authors’ estimation, because

As with polio and smallpox, many birth defects are preventable and can be completely eliminated by timely primary prevention.

What birth defects are the authors talking about and how can they be prevented? We’ll count them down until we get to one that doesn’t seem to be prevented in the same way as the others.

Congenital rubella syndrome

For pregnancies infected with rubella, the child can “suffer with cataracts, hearing loss, congenital heart defects, and both physical and mental retardation.” How can this condition be prevented: through simple vaccination. So, fine–clearly a condition that can be prevented through immunization programs of young girls.

Folic acid-preventable spina bifida and anencephaly

Almost 250,000 cases of folic acid-preventable spina bifida and anencephaly occur each year. The way to prevent this condition is in its very name: through folic acid supplementation. How is this done? Through folic acid fortification of centrally processed food. Again, nothing controversial here (aside from those concerned with vaccinations for rubella and those concerned with modifying food).

Fetal alcohol syndrome

Sure. Of course this should and can be prevented. Fetal alcohol syndrome (FAS) can cause lifelong disability with no cure and it can be prevented by the pregnant mom avoiding alcohol during pregnancy. So, the prevention method is public education and counseling for pregnant mothers struggling with alcohol abuse. Something I would expect no one would object to.

Maternal age and Down syndrome

Wait a tick. How is this condition to be prevented?

The authors note that Down syndrome births are on the rise in lower and middle income countries of the developing world. This is due, primarily, to more mothers having more children later in life, since maternal age is associated with the chance for having a child with Down syndrome. As the authors put it:

Despite improved knowledge and screening, about 5400 births in the USA are affected with Down syndrome each year.

Telling, that “despite,” isn’t it?

What are the prevention methods the authors recommend?

The first:

Both individual and societal changes that encourage lowering the age of conception among women will serve as the single most cost-efficient and effective intervention to prevent Down syndrome in future births.

Again, not that controversial, beyond advocating a cultural change to discourage women from having children later in life.

But, then we get to the second:

Implementation of universal screening and counseling (both pre and post conception) is urgently required in middle- and low-income countries. Improving organizational and cultural factors to reduce variation in prenatal screening will better contribute towards Down syndrome prevention in several countries.

You have to read up a bit further in the section on preventing Down syndrome, though, to learn precisely how “universal screening and counseling” will “better contribute towards Down syndrome prevention”:

A large majority of prenatally diagnosed Down syndrome cases (~90%) are medically terminated.

Other conditions

The remaining conditions identified, and their prevention, are:

Rhesus hemolytic disease–“urgent need for prenatal screening for RhD antigens, & access to immune prophylaxis”

Maternal diabetes–periodic screening and management along with fostering healthier lifestyles

Valporic acid (associated with spin bifida)–eliminate valporic acid prescriptions among women of childbearing age

Iodine deficiency–salt iodization

Close to nil

The authors conclude calling on all medical professionals and public health practitioners in the field of birth defects to

[I]ntensify prevention efforts, and undertake comprehensive and integrated efforts to accelerate the pace of prevention at a global scale for preventable birth defects.  … Only then can we achieve our goal of bringing current rates of major preventable birth defects close to nil.

Preventive genetics

So, let’s recap: there are a defined list of conditions identified by the authors that are ripe for being prevented. For all but Down syndrome, the measures of prevention consist of vaccination, folic acid supplementation, stop drinking alcohol, screening for RH incompatibility and maternal diabetes and treating those during a pregnancy, eliminating valporic acid prescriptions for expectant mothers, and iodizing salt–all measures that actually contribute to the health of the mother.

And, how to prevent Down syndrome? Discourage older women from getting pregnant, and if any woman is pregnant, then have prenatal testing and abort the pregnancy.

Anyone have a problem with this?

Note: the graphic featuring the company “Prevention Genetics” is shared as its name & tagline echo the recommendations of the study’s authors. The study’s authors are not connected with Prevention Genetics. The corresponding author listed on study is Godfrey Oakley at 



  1. Mark, this is fascinating. I really appreciate the nuance you bring to this. One problem is in the definition of Down syndrome as a “birth defect.” Against that formulation, I much prefer Rachel Adams’ formulation of “healthy disabled.” Another is the assumption that Down syndrome will be bad for the family, and for society. These contentions have been studied and found wanting.

    On its face, their policy prescription seems paternalistic: We in the first world will encourage those in developing countries to have babies younger, as well as women here. I much prefer a scenario in which women are informed and then do what they want: the fact of men telling women when to have babies is, to put it mildly, problematic. So is the idea of women being told to have babies younger for the Greater Good, when their own ideas (pursuing a career, waiting for the right partner) may be at odds with that.

    It’s sad to see this kind of thing written in 2013. It reminds me of an article from 1973; it’s about Down syndrome and public health, and written by Zena Stein. It takes a similarly aggressive approach to prevention, and holds a similarly unidimensional idea of Down syndrome and disability as bad things.

    Hope this helps.

    • Thank you, George. I was unaware of the Stein article. The prescribed medical intervention to “prevent” Down syndrome would work for all other conditions identified by the authors–but why don’t they prescribe it for those, as well?

  2. I feel sick now, and sad, really sad.

  3. I don’t think other conditions are diagnosed with essentially 100% accuracy except spina bifida. As a culture we already are well aware of the higher risks AND willing to take the risks soooo they are promoting abortion. Send this article to the conservatives.

    Sounds like a theoretically valid source, we need to get it retracted and revised with FACTS not assumptions that are outdated. Infant mortality is higher but the conditions though not easy are medically treatable and USED on people born. We no longer deny treatment, why deny life due to assumed economic & emotional hardship? We treat people diagnosed with tough conditions and doctors don’t generally suggest death as the FIRST and best course of treatment.

    The elephant in the room related to Down syndrome is the intellectual disability that is again ASSUMED to be so devastating & dire. That is the CULTURAL bias that needs URGENT attention. Along with accommodating differences in all of us. We ALL need extra help and assistance in various ways. Face facts. You cannot flat out say a disability is more costly than many other life choices & circumstances.

  4. There are no words strong enough to describe how disgusted I feel about this research. Who are these ignorant idiots? Obviously they know nothing about Down syndrome or woman for that matter.
    Preventable chronic disease is the biggest burden on the health system and the risk increases with age, soon they’ll be suggesting we kill everyone over the age of 40. Seriously there are so many bigger problems in the world at present and Down Syndrome isn’t one of them.

    • renate lindeman says:

      I could not agree more. I feel they focus on these things on purpose. Like a way to distract the masses from the real problems we face like widespread hatred, wars, pollution and cancer and other health problems. Create a scapegoat. Too bad the scapegoats are the most peaceful, loving human beings among us.

  5. Sick. My daughter was born with two birth defects – AND Down syndrome. The two birth defects were corrected via surgery and are not preventable. And I did every single thing they suggest – except abort my daughter. Cause she’s pretty fantastic and I love her.

  6. Joanne Bruneau says:

    Every life is precious !!!! EVERY LIFE !!!!!!!!!

  7. Cathy Mc Cormack says:

    Are they icing in the dark ages it’s not only age related birth but young mothers have children with Downs and who gives them the right to try and stamp out Downs theses children yes have disability’s but they can and do go on and live full and rewarding life’s next they will be wanting them all locked up in institutions again like years ago and left to do nothing I have worked with adaults who were put into homes for the disabled and also children now with Downs also my grand daughter has Downs but she is loving , smart , happy and such a little fighter she has had her battles to overcome and she has managed fine she’s very bright child and she’s my world we as a large family by which I mean cousins aunty uncles grandparents brother and two sister and many friends are blessed to have her in our lives so get real for god sake with have enough from doctors a at the time of finding out a woman is pregnant with a Downs baby so much negativity god made all of us he made all different for a reason

  8. Yeah, I have a problem with that. “…and if any woman is pregnant, then have prenatal testing and abort the pregnancy.” What now? “Oh OK, sure. I’ll just abort it. No problems.” Do you have any idea what a person with Trisomy 21 can do with their life in this day and age? That aside, we still remember the fallen soldiers who fought against the Nazis and their eugenic practices, if this is anything other than the prenatal equivalent of sending the intellectually disabled to the gas chambers, please enlighten.


  1. […] week’s post discussed public health professionals calling on developing countries to catch up to the first […]

Leave a Reply

%d bloggers like this: