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Posted at 12:07 AM ET, 10/03/2011

An upbeat look at life with Down Syndrome

Research published early this year in the BMJ reported promising results for a noninvasive, prenatal blood test that can determine whether a fetus has Down Syndrome.

Such a test, should it become widely available, may well prove welcome to many expectant parents. And it’s a far better way of screening for Down Syndrome than the current best options, amniocentesis and chorionic villus sampling — invasive techniques that pose risks to the developing fetus.

Deciding whether to continue a pregnancy after gaining such knowledge is of course a deeply personal matter. But it’s one that should be made with eyes wide open not only to the potential risks but also to the potential benefits of bringing up a child with DS.

Raising awareness of those benefits has become a life mission for Brian Skotko. A clinical fellow in genetics who practices in several Boston hospitals, Skotko has a sister with DS. He makes no bones about his belief that his life has been enriched by her presence.

But Skotko doesn’t expect us to just to take his word for it. In the Sept. 13 issue of the American Journal of Medical Genetics, Skotko published results of surveys of parents and siblings of people with DS and of people ages 12 and up who had DS themselves. The surveys were distributed to families from six DS nonprofit organizations across the United States. With few exceptions, most reported positive experiences.

Among 284 people with DS, 99 percent said they were happy with their lives, 97 percent liked who they are and 96 percent were happy with the way they look. Though a small number reported being unhappy, Skotko notes that these tended to be adolescents and that adolescence is often an unhappy time for all kinds of people.

Of the 822 siblings of people with DS, more than 96 percent reported feeling affection toward their sibling with DS. Among older siblings, 94 percent expressed feelings of pride in their brother or sister with DS, and 88 percent said they were better people for having a sibling with DS. Fewer than 10 percent said they felt embarrassed, and fewer than 5 percent expressed desire to trade their sibling for one without DS.

Of 2,044 parents of people with DS, 99 percent reported that they loved their child, and 97 percent said they were proud of that child. While 79 percent said their outlook on life was more positive because of having a child with DS, 5 percent felt embarrassed by their child, and 4 percent regretted having them. Skotko says those negative responses were mostly from parents of children with severe disability or medical problems.

Skotko notes that his research has some limitations, including a selection bias stemming from the fact that participants were those who chose to respond to his questionnaire. It’s possible that people whose experiences were more negative may have opted not to take part.

What do you think about the prospect of a blood test to detect Down Syndrome?

By  |  12:07 AM ET, 10/03/2011

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