Down Syndrome Facts

The Basics

Here are the basic down syndrome facts from a medical point of view.... Down Syndrome is caused by a non-disjunction during cell division. This cell division error happens at conception, and to date, no one knows why. Research indicates that it is not affected by race, religion or socioeconomic status. What is known though is that the likelihood of this error happening increases with maternal age.

Your age alone will not determine your down's syndrome risk. A US government agency goes so far as to say that trying to use age alone to determine Down's syndrome risk would actually miss 75% of the cases. Newer research quoted by the National Association for Down Syndrome points out that 80% of babies born with Down Syndrome are born to women under 35 years of age.

If you're over 35 and are pregnant or considering pregnancy, then you've probably been told that you should undergo down syndrome screening. Should you do it? Consider these down syndrome facts...

So then why all the fuss about down syndrome screening for older mothers? Well, there are other down syndrome facts to consider too. This is where statistics can get hard to follow...

The fact is, younger women are more likely to become pregnant. The National Institutes of Health reveals that women over 35 only account for 9% of total births. But, this same group accounts for 25 % of the total instances of Down Syndrome.

The down syndrome facts on risk associated with age are much easier to understand when the information is presented as probabilities based on mother's age. Then, the pattern for increased down's syndrome risk is clear.

Down Syndrome Facts on Maternal Age

Maternal Age at Pregnancy

under 30

age 35

age 42

age 49


across all age groups

Down's Syndrome Risk

less than 1 in 1,000

1 in 400

1 in 60

1 in 12


1 in 800

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Okay. So, now that you know these down syndrome facts, what will you do with this information? The first question your doctor or midwife will want answered is whether or not you will accept down syndrome screening, often by way of amniocentesis.

But I think that the more important question to answer is this.... What will you do with that information? Are these really down syndrome facts that you want to know? What if the result of your down syndrome screening is positive?

Would you consider a down syndrome abortion? If you did, is this option even available in your location? What would the cost and issues be around that? Please be aware that I am not promoting this option one way or another, but I want to raise this issue for you to consider your own feelings around down syndrome abortions. Be aware too, that other people can have strong feelings as well, and may sway you one way or another. Be prepared.

If an abortion due to presence of down syndrome is not your choice, then consider the potential of lifelong treatment for down syndrome. Again, this is a worst case scenario. The effects of down syndrome are not at all a given.

Down Syndrome Facts on Appearance

Doctors can often recognize a baby born with down syndrome. The facial profile often seems slightly flattened and there is an upward slant to the eyes, with a noticeable folding of skin at the inner corners.

As well, down syndrome babies may have a single crease across the palm of their hands, which are often shorter and broader than usual. Their muscles have low tone, while they are especially able to extend their joints (hyperflexibility)

Their head may have any of several visible features. The mouth and / or entire head may be relatively small, and their neck and ears may seem short. The bridge of the nose may also appear flat. Physically, down syndrome children are often smaller than their peers.

Long Term Health

There are often associated health conditions, such as issues with the heart, lungs and gastro-intestinal system, though this is not always true. Congenital heart defects are possible in up to 40% of down syndrome children, so testing of newborns is encouraged. Leukemia tends to be about 10 to 15 times more common among kids with down syndrome as well.

There is also a very wide variation in mental abilities and behavior. Developmental delays may be mild to severe, but most people with Down Syndrome have disabilities that are mild to moderate.

Down Syndrome Kids

The impact of all of these risks is that you may well face a lifetime of treatment for down syndrome. But, as awareness of Down Syndrome improves, the social and educational supports that are needed are becoming easier to find. Early intervention, down syndrome treatments, appropriate teaching methods and community supports allow many people to fully develop into adults able to live and work independently.

But, speaking as a mother of a child with special needs, it all takes time, energy and money. It may help to consider whether you are the type of person who wants to know about potential risks and issues beforehand, and whether you prefer to deal with issues as they arise. It also helps to have a clear idea in your own mind as to the potential risks with down syndrome screening as well.

If you do decide to forego down syndrome screening (as I did) then I do recommend that you acquaint yourself with basic down syndrome facts regardless. If all goes well (and it probably will) then at least your awareness of down syndrome will be of help to other families you will encounter with down syndrome children. You may even choose to promote that awareness by wearing a Down Syndrome awareness bracelet.

A little understanding can go a long way.

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