Down Syndrome Resources

If you have just received a prenatal diagnosis of Down Syndrome, I'm sure many questions are going through your mind. What is the cause of Down Syndrome? What does this mean for my baby? Is there any treatment? What will my baby look like? Where can I find stories and pictures of children with Down Syndrome? Where can I find support from other parents who are raising a child with Down Syndrome?

Your child will change your life. It is up to you to decide in what ways that will be.

You may be wondering why I have a section on Down Syndrome in a site about Edwards Syndrome. While I am not an expert on Down Syndrome, in some ways it is very similar to Edwards Syndrome. Both occur when a child has 47 instead of 46 chromosomes. In the case of Down Syndrome, the extra chromosome occurs in the twentyfirst position, which is why Down Syndrome is also called Trisomy 21.

In the case of Edwards Syndrome, the extra chromosome is in the eighteenth position, called Trisomy 18. One other form of full trisomy is Patau's Syndrome, or Trisomy 13. For more information about how trisomies occur and the odds of having a baby with a trisomy see Aneuploidy from the Genetics and Public Policy Center.

Diagnosing Down Syndrome

Unlike Edwards Syndrome, which is usually fatal, children with Down Syndrome frequently live a long and relatively healthy life. Often Down Syndrome is identified prenatally, via AFP, ultrasound, and amnio. Like Edwards Syndrome, Down Syndrome cannot be diagnosed by AFP. Sometimes a mother's AFP or quad screen test comes back as high risk for Down Syndrome. It is important to note that this is not a diagnosis, but a risk.

When an AFP test indicates a high risk for Down Syndrome, usually a Level 2 ultrasound (also called a targeted ultrasound) is scheduled. A level 2 ultrasound is usually performed by a perinatologist or someone else who specializes in high-risk pregnancies. They are specially trained to look for the markers of Down Syndrome.

These markers, some of which are soft markers, are characteristics frequently seen on babies with Down Syndrome. Some of these markers are choroid plexus cyst, echogenic bowel, echogenic intracardiac focus, dilitation of the kidneys (pyelctasis), and nuchal translucency. However, many of these things are also seen on normal babies, so even finding markers for Down Syndrome in ultrasound is not a conclusive diagnosis.

The only ways to know with nearly 100% certainty that your unborn baby has Down Syndrome is to do an amniocentesis or CVS (chorionic villi sampling)(Ref 1). From the amnio or CVS, they do a karyotype of your baby's cells, which will clearly show the extra twentyfirst chromosome if it is present, indicating Down syndrome (see a karyotype of Edward's Syndrome [Trisomy 18]). For a good description of all of these and other prenatal testing options see Prenatal Genetic Testing from the Genetics and Public Policy Center.

Making Choices

At this time, if you have a definite diagnosis of Down Syndrome, you are typically presented with the option to terminate the pregnancy. However, that is not the only option you have. The first thing to do is slow down and learn about Down Syndrome and all the options before you make a decision that you will have to live with for the rest of your life. You will be pushed to make a decision quickly, but educate yourself before you do so.

When our daughter Abigail was diagnosed with Edwards Syndrome, we were told that most babies with this disorder don't live and those who do are severely handicapped, even vegetables. But after researching trisomy 18 further, we found out that, yes, most babies don't live but those that do are not vegetables. These children smile and respond, they are simply very delayed and they bring great joy to their parents.

And what we felt for our daughter was not shame, but love and a sense of "cheering for the underdog" in that everything she did was an accomplishment. We were so thrilled that she was born alive and lived 5 days, beating the odds. And whenever I see a child with Down Syndrome, I feel a kinship with him, cheering on his every accomplishment because he, too, is beating the odds. What an incredible thing to be a part of!

We grieve the loss of the life we thought they would have, but we create new dreams and share them with our child.

Of course, we all dream of the perfect child - little league, playing with dolls, graduation, learning to drive, getting married, having grandchildren of our own. But having a child with 46 chromosomes doesn't promise that, either. Each child is unique, some with more athleticism, some with more intelligence, some with more beauty than others. And sometimes we modify those dreams if our son prefers chess to soccer, if our daughter just has no interest in science or medicine. We love them just the same and create new dreams.

But sometimes there are more serious issues. Perhaps our child has a physical disfigurement that sets him apart from others. Perhaps he cannot hear, or cannot walk. Or perhaps he is born healthy, but a serious accident or illness changes him permanently. In each case, we continue to love our child. We grieve the loss of the life we thought they would have, but we create new dreams and share them with our child.

There are no guarantees in life. We cannot script our lives to protect our families from all hardship. We have to deal with what we are given. And if we are given a child with 47 chromosomes, our lives will definitely be different from how we thought it would be. But that doesn't necessarily mean it will be worse, just different.

I never dreamed I would have a child with Edwards Syndrome. And I never dreamed how she would change my life. It was very painful to lose someone I loved so much, but I have grown so much through the experience. Please take a look at Abigail's Story to see the blessing her life has been. I wouldn't change it, even though it was difficult.

Below I have listed several excellent websites for finding out more information about Down Syndrome and for connecting with other parents of children with Down Syndrome to see what it is really like.

Your child will change your life. It is up to you to decide in what ways that will be.

Where can I find support and information from other parents of children with Down Syndrome?

There are several sites with very good information and support about Down Syndrome:

Where can I find stories and pictures of children with Down Syndrome?

Here are some links to web sites about and by children with Down Syndrome.

I am not a medical professional and the information included here is no substitute for medical advice; please consult your doctor.

Additional Reading:

  1. Prenatal Screening for Down Syndrome
  2. Confronting the Distortions: Mothers of Children with Down Syndrome and Prenatal Testing

Stories - ours and others:
Resources and Information

This page updated April 24, 2005.