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Concerns Linger As New Down Syndrome Test Hits Market

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In a move that’s been anticipated for years, a prenatal blood test to detect Down syndrome became available Monday in 20 major cities, the company behind the screening tool said.

The test, developed by California-based Sequenom, accurately identified Trisomy 21 — the most common form of Down syndrome — in 98.6 percent of cases, according to a study published Monday in the journal Genetics in Medicine. The research indicates that there is a false-positive rate of 0.2 percent.

Officials with Sequenom say the new blood test is intended for the estimated 750,000 pregnant women each year who are at high risk for having a baby with Down syndrome. The test can be performed as early as 10 weeks into a pregnancy.

The ability to detect Down syndrome in the womb by analyzing the mother’s blood is considered a breakthrough. Previously available testing methods such as amniocentesis are far more invasive and present a risk of miscarriage.

However, the availability of a noninvasive test has also been met with concern by many of those affected by Down syndrome. They are worried that easier screening could lead to fewer children with the chromosomal disorder and ultimately prompt reduced supports and services for the population.

Nonetheless, advocates at the National Down Syndrome Society were careful not to criticize the development Monday.

“Our concern at NDSS is always for accurate information, from any test, for the pregnant woman and her family,” the organization said in a statement to Disability Scoop.

In anticipation of prenatal blood tests, Down syndrome advocates have worked for some time to promote awareness of what life is like with the developmental disability.

A series of surveys released last month found that the overwhelming majority of people with Down syndrome are happy with their lives. Moreover, family members said that having a person with the disability around gave them a more positive outlook.

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Comments (14 Responses)

  1. seeandbesafe.com says:

    I’m not affected by the disability but I would think that the test would, if safe, be welcomed by most parents at risk. Having foreknowledge allows one to prepare as much you can for any challenges.

    The article stated “They are worried that easier screening could lead to fewer children with the chromosomal disorder and ultimately prompt reduced supports and services for the population.”

    I’m not sure that that is fair to any potential parent who may feel that they are not capable of rearing a child with disabilities. And ultimately it’s the child who will suffer if parenting is inadequate.

    I think the answer to their concerns is stronger advocacy.

  2. msamericanpatriot says:

    But would it prevent the ALARMING rate that they are aborted at. NO IT WOULD NOT. Therefore this test should NOT be allowed on the market unless the parents sign a waiver saying they will NOT abort the fetus if found to have Down Syndrome. Next would be prenatal testing for autism and those individuals found to have it would be aborted at the same rate as their Down Syndrome brethren.

  3. jzb says:

    I believe the reason you see far fewer children with Spina Bifida, other than the increase in folate consumption, is the abortion rate. Somewhere I read that it is 80% of women with prenatal identification of SB elect to terminate. A sad statistic. When our child was identified at 22 weeks gestational age, I cannot begin to tell you how much pressure we received to terminate.
    Why do we as a society devalue individuals with disabilities? Prenatal discrimination . . . Why is this acceptable?

  4. thespecialneedsparent says:

    There also needs to be parent education with this test regarding what the diagnosis of Down Syndrome means. I have a 14-year old daughter with DS and she enriches my life. At least a dozen times a day she asks to give me hug and a kiss and last night she gave me a $1 tip for the dinner I made. How many “normal” 14-year-olds do that? She has a great sense of humor and is well accepted by kids in her class. I can’t remember her staying mad about anything longer than 15 minutes. I have no mental limitations and I can have trouble letting go when something makes me mad. She is a reminder to me to keep things in perspective and to be a better person. This is not to say there aren’t challenges as there are.

    There is nothing wrong with this test as long as it is a tool to help individuals better prepare to be a parent. All children have their challenges. I have to ask what if there was a test to tell expectant parents that their child is going to have addiction problems. Would individuals consider an abortion if that was a diagnosis or would they seek to be more informed so as to help their child navigate that challenge?

    To me special needs is really just another aspect of diversity that society needs to embrace and society does look at it tremendously differently then it did a generation ago. But we still have room to grow.

  5. justanothermom says:

    So I’ll step right off the edge and say the word: GENOCIDE. My son is 30 next month. In all these years, all the dollars raised for research, there has been no substantial improvement in the quality of life of people born with Down syndrome because of research. No medications, vitamin supplements, or therapeutic interventions… Our kids/adults are asked to volunteer for links to Alzheimer’s studies. Sixty years ago, I remember walking door to door with my mother collecting dimes for the March of Dimes, to eliminate birth defects. And you can see how well that’s worked. So now there’s another test. The future?
    I see high rate of abortions for people with Down syndrome, and lots of dollars for research for, what, a blood test for autism? Or a blood test for normal? Most Down syndrome babies are born to moms who are under 32, under the age for testing. And what’s the rate for abortions? 90% plus, last I heard. So this new test will be less invasive, and for those l.4% children diagnosed in error, well, what a price they’ll pay.
    Yeah, genocide.

  6. bodey041 says:

    Msamericanpatriot’s fear mongering is just that! She offers no facts because she has none. The ability to test for any disability before birth allows the parents to prepare for the eventuality of the child’s birth. It allows them to put together the necessary medical and therapeutic teams to best deal with the situation. Msamericanpatriot would have every parent taken off guard and in shock by the birth of a child with a disability. Is it best for the child to deal with the medical stress as the doctors run all of the tests needed to determine what the need is.

    How boldly selfish of those who agree with msamericanpatriot.

  7. mjm6783 says:

    I think that even though it’s the next obvious leap of logic, bringing abortion into this discussion is distracting and unnecessary. Tests like this one are about information. People have to make important life choices everyday. If there is any way for those decisions to be better informed, I fully support it. The stigma against Down syndrome will only fade away once we educate people to the positive happy lives led by many with the disorder.

  8. Ruby says:

    Potenial parents should go through a class of seeing what it is like for 3 weeks to have a child with a developmental disability by shadowing or taking care of a person an individual with a specific DD. Then attempt to make their educated decision on if they should go on with their pregnancy.

  9. disabilitiesrightsadvocate says:

    While I find the comments interesting, they are also a bit disturbing! We must educate parents and society in general on the beauty and benefits of having people with any given disabilities as part of our community. It saddens me to think of a world with out differences, especially ones that can teach all of us humility.

  10. bodey041 says:

    @disabilitiesrightsadvocate – Your comment is a red herring at best. This is not about limiting diversity or limiting possibilities. This is about preparation. Every parent of a child with a disability, without exception, states that the shock, dismay, and absence of information is the worse part of the first few months after the diagnosis. If a family is prepared for the eventuality of the birth of a child with a disability, the family is in a better (not worse) position to enjoy that child’s life just as he or she is. Does it eliminate the challenges? No. But it does help the family and support network be better prepared.

    And what is this nonsense about teaching humility?

  11. violetred says:

    The comments about abortion are not out of line at all. I’ve read numerous articles showing that the decline in Down Syndrome births is due to the high rate of abortion. That’s just a fact. The whole reason for having the prenatal test is so the woman can terminate the pregnancy. There is nothing to “prepare for.” What are you going to do…sign up for early intervention while you’re pregnant? Book your OT, PT, and SLP appointments in the third trimester? Get on the waiting list for other services…hey, wait a minute…there are no services to sign up for! Wow. Good thing I found out now so I can ruin my entire pregnancy awaiting the birth of my disabled child. Maybe at my baby shower they can all wear black and say how sorry they are.
    I’m really not trying to be flip here. But as one reader pointed out, in all the years we’ve had prenatal tests for Down Syndrome, we are no closer to having a cure or any new treatments. We have relied on abortion to eradicate the disorder. The same thing will happen for autism. Just wait.
    We talk out of both sides of our mouth in this country when it comes to disabilities. On the one hand, we pass laws that demand equality and justice for the disabled, and we teach our children that everyone is special and has value, no matter what their abilities. On the other hand, we scare pregnant women into believing that a disabled life is not worth living. I don’t think you can have it both ways.
    Science gives us the opportunity for greater knowledge, but we have to decide the best way to use it.

  12. bodey041 says:

    @ violetred – Your fear mongering is at least as bad as msamericanpatriot’s. Further, it is all BS! That is exactly what parents who have foreknowledge of a disability should be doing. The medical profession should be forewarned of the potential for an emergency delivery. Early intervention should be given warning that a child is coming into this world with needs that go beyond what is normal. My son was in therapies at 4 months old because we had medical staff that were on top of the situation. Yes, I would have had therapies doing all they could from birth.

    You, msamericanpatriot, and the other fear mongers would have the rest of us “crawling around in the dirt” like ignorant animals rather than acting from advanced warning and data driven research. How careless, cold hearted, and mean!

  13. sheranmemories says:

    The concerns are valid and not fearmongering. It is fact that 90% of pregnancies with a prediagnosis are aborted. Without commenting on or judging this decision, I believe this is because parents are not give accurate information about Down syndrome and are encouraged to terminate by the medical community. Although, I was told my son probably had Downs minutes after his birth, the medical advice I was given in the days that followed painted a very grim future for my son. Thankfully, I did my own research and talked with other parents and learned of the true potential of people with Down syndrome. I was able to get him into physical therapy at 4 months (and I would not have been able to arrange for this pre birth – it doesnt work that way) and he is doing wonderfully today and truly is the light of my life. I think all most of what we are saying here is that accurate information and awareness needs to be a focus along with the testing. Personally, I elected not to have the testing because it would not have mattered to me either way and I did not want to worry about something that I had no control over for months. I also want to comment on the research comments, there have been great strides in research for Downs syndrome – not in a “cure” or prevention side but in the cognitive side. By learning about the differences in how persons with DS learn and develop, we can make great strides in education for this community and help each person reach his or her potential. Its important work for very special people.

  14. mherrmann says:

    @sheranmemories- I logged on ready to comment only to find that you had made nearly every point I was going to make! I was moved to write after reading a wonderful article in today’s Buffalo News about identical twin boys with DS. Many of the issues you touched on were mentioned in that article…http://www.buffalonews.com/life/health-parenting/health/article606706.ece

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