Biotech Companies Developing Blood Tests for Down Syndrome


Andy with his sisters, 4-year-old Lily and 8-year-old Kate

Andy with his sisters Lily and Kate

Two biotech companies, Artemis and Sequenom, are developing prenatal blood tests to detect Trisomy 21, the chromosomal abnormality that causes Down syndrome.

These blood tests are non-invasive and can be done in the first trimester of pregnancy.

According to Ian Clements, spokesperson for the San Diego-based publicly-traded Sequenom, the company recently completed a successful study of the plasma of about 480 women, which they plan to publish soon.

Clements said Sequenom’s next step is to do a much bigger study, in conjunction with Women and Infants Hospital of Rhode Island, which has been gathering thousands of blood samples of high-risk pregnant women.

Once they obtain the results of that study, Sequenom hopes to make the test commercially available.

Physicians will order the blood draw and send it to Sequenom’s laboratories in San Diego to be tested, Clements said.

“We’re obviously pretty hopeful and confident based on the study we’ve done on the smaller sample set,” Clements said.

Currently, although preliminary blood work can give women a prediction of the odds of the fetus having chromosome abnormalities, there are only two definitive ways to test for Down syndrome. Both tests are invasive:

Amniocentesis: This test is usually done after 15 weeks of pregnancy. A needle is inserted into the amniotic sac through the mother’s abdomen and fluid is taken out. The amniotic fluid is then tested for Down syndrome, spina bifida, and other abnormalities.

Risks of amniocentesis: According to the Mayo Clinic, doing an amniocentesis has a 1 in 300 to 1 in 500 risk of miscarriage. Other risks, which are less common, include cramping and vaginal bleeding, RH sensitization, needle injury to the baby, amniotic fluid leakage, and infection.

Chorionic Villus Sampling (CVS): This test is done between the 10th and 12th week of pregnancy. A tiny piece of the placenta is removed, either through the cervix (via a catheter that has a small suction on the end of it) or through the woman’s abdomen (with a long needle), and then tested for abnormalities.

Risks of CVS: According to the Mayo Clinic, the risk of miscarriage is 1 in 100. Other risks include cramping and vaginal bleeding, RH sensitization, and infection.

How common is Down syndrome?

Down syndrome occurs in about 1 in 800 pregnancies overall. The National Down Syndrome Society estimates that there are more than 400,000 people in the U.S. with Down syndrome today.

Though your risk for having a Down syndrome baby is higher the older you are, more women under 35 have babies with Down syndrome because so many more babies are born to women under 35.

According to the March of Dimes:

• At age 25, the risk of having a baby with Down syndrome is 1 in 1,250.

• At age 30, the risk is 1 in 1,000.

• At age 35, the risk is 1 in 400.

• At age 40, the risk is 1 in 100.

• At age 45, the risk is 1 in 30.

Depending on your age, the risk of miscarriage due to the invasive testing like amniocentesis or CVS may actually be higher than your risk of having a Down syndrome fetus.


Stephanie Meredith with her husband Justin and their three children: 10-year-old Andy, 8-year-old Kate, and 4-year-old Lily

Stephanie Meredith with her husband Justin and their three children: 10-year-old Andy, 8-year-old Kate, and 4-year-old Lily

Stephanie’s Story

Stephanie Meredith of Canton, Georgia was in her early twenties when her son Andy was born with Down syndrome.

“When we first got the diagnosis we were scared 23-year-old kids,” she told me in a phone interview this morning. “We had all these questions … questions about other kids being kind to him, what his future would be like. You have to adjust your expectations, but then life becomes remarkably ordinary and you love this little person and accept him for the individual that he is.”

Today Andy is ten years old. Meredith says he’s an amazing photographer and he loves to mountain bike. He gets extra help for math and reading, two subjects he struggles with. He studies social studies, science, art, music, and PE with his peers.

The Abortion Option

According to an article published in May 2007 in the New York Times, about 90 percent of women who find out they are carrying a Down syndrome fetus choose to have an abortion. A more recent ABC news story reported that Down syndrome birth rates have been dropping as more women choose genetic testing and then decide to abort.

But families living with Down syndrome believe that many of our culture’s ideas about Down syndrome are out of date.

“The outcomes for people with Down syndrome have improved so dramatically in the past 30 years,” says Meredith. “Providing fair, balanced, and accurate information is the absolute critical key, with Down syndrome and any other genetically diagnosed conditions.”

According to Meredith, who has written one printed booklet, “Understanding a Down Syndrome Diagnosis,” that has been nationally recommended by the Kennedy Foundation First Call Advisory Committee, and has also just launched a Website, DownSyndromePregnancy with an e-book (co-authored by Nancy Iannone) about Down syndrome to support women who chose to continue their pregnancies, some of our most basic notions about this condition are wrong.

“People might think there’s a higher divorce rate among couples who have a child with Down syndrome when actually the divorce rate is lower. A lot of people are concerned about the future and don’t realize there are over 250 college programs for people with disabilities. A lot of people worry about the possible implications for other children when the studies show that they end up being more compassionate and well-adjusted than other children,” Meredith said.

Still, Meredith thinks non-invasive testing can be a good option for pregnant women who want more information, even though some pregnant women might not want to know.

“I honestly think it gives people more information, then it’s up to them how they want to use it,” Meredith said.

What do you think? Did you choose to do genetic testing? Do you think it’s better to have an abortion if something is wrong with the fetus? Would you have an abortion if you knew you were carrying a Down syndrome fetus?

Related post: A Dad Writes About Raising a Daughter with CP
Elie’s Story: Velo-Cardio-Facial Syndrome

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23 thoughts on “Biotech Companies Developing Blood Tests for Down Syndrome”

  1. Another angle; given the abortion laws in many states, a test like this is immaterial almost because if a woman were to choose to terminate, she might not be able to.

    I find these issues around technology so fascinating, so upsetting & so volatile, all at once.
    .-= Sarah Buttenwieser´s last blog ..Picnic =-.

  2. This is a tough one. My brother and his wife had a baby with Down’s 26 years ago. They raised him at home. I was in admiration, watching them do it. This was not easy. Life is not easy for someone with Down’s. But he also had autism. It was also hard for his brother. So, I really think this must remain an individual choice and any woman who knows she carries a child with Down’s should be free to make her own choice. I also know a man whose only child was born with Down’s. He and his wife chose to put the child in an institution and regretted it all their lives.
    .-= Alexandra´s last blog ..The Reality of Innkeeping =-.

  3. I chose not to have any testing with either of my children because the information wouldn’t have made a difference. My son was born with Down syndrome. He is an amazing person. I’ve had ‘friends’ tell me they would have the tests and terminate if the results were positive for Down syndrome. That tells me my son’s life has no purpose, which is not the case at all. I’ve seen him change many people’s lives in his 10 short years. I can only imagine the impact he will have in the future.

  4. Stephanie Meredith is a friend of mine and I can tell you that their family is amazing–she has three beautiful children. I hope that by sharing her story other families can have a balanced view of what life might be like raising a child with Down syndrome. As Kathy has said so eloquently, her son has changed other people’s lives, I think the same can be said for Meredith’s son Andy.
    .-= Kristen´s last blog ..Calzones take two

  5. The choice to do prenatal testing should always be an individual choice and not mandated by the medical field. I wholeheartedly agree that it is critical that if a parent does prenatal testing, they are given balanced, up-to-date, accurate information about the diagnosis. Doctors need to be legally required to give contact information to support groups so that parents can have the opportunity to learn about what life is like with Ds.

    I did not opt for prenatal testing with my son who was born with Ds. I do not regret that decision one bit, not knowing gave me time to enjoy my pregnancy. Knowing while having the chance to hold him in my arms and love him made it so much easier to accept. We quickly moved forward and have been blessed with him in so many ways.

    I think when you decide to be a parent, you decide to accept whatever personality, appearance, and health conditions you child may have, whether present from conception or not discovered until later in life. That is your child, no matter what, and it is your responsibility to give them the best life you can.
    .-= Deborah´s last blog ..We love Playgroup! =-.

  6. This is so tricky. We had the experience of getting a “higher than normal” chance of having a baby with DS with this pregnancy. We opted not to have amnio, though the ultrasound showed no markers and this lowered our chance to “normal”. It was so stressful to be presented with the option to abort our baby, and the rush to get testing so that we could get an abortion (if we wanted, which we wouldn’t have) within the 22 week margin. I wrote about the experience here:

    I think that if you know you would not abort, then there is no point in getting this testing, it only creates stress. But, if your choice would be not to raise a child who has DS, then I guess it is helpful to know. Still…raises SO many very uncomfortable ethical questions.
    .-= Katy´s last blog ..An Ode to the Boodge- a Terrific Two =-.

  7. I did not have testing done with either of my pregnancies. Didnt want the risk, even though it isnt huge. Also, I now know of a couple who was told they were expecting a downs baby (based on the prenatal testing) and that diagnosis was wrong. So they went through weeks of worry for nothing. ALSO, for us, it wouldnt have changed anything. I would NEVER abort. God is the author of life, not me. Is it more inconvenient to have a baby with Downs, yes probably so. So stopping the forming baby’s life is the answer? no. There are always going to be easier ways of doing things, that doesnt always make them better. A good friend of mine had 7 kids when they decided to expand their family by adpoting a baby boy with Downs. He has had his share of problems (actually his share and a couple of other peoples’ share too!): nearly died, multiple heart surgeries, eats through a button in his stomach, cant walk at 2 1/2 yrs old, etc. BUT she has told me he is the best thing that has happened to their family.

    Suppose they made a test for Autism, a way to tell if your child had it before it was born. Would women start aborting bc it is their “choice” to not deal with an Autistic child? Thats ridiculous. You have to play the hand that is dealt to you. Every child is a blessing. ALL of them, no matter what “condition” they are labeled with. Abortion is a feminist movement cop out of responsibility.

    Back to the original topic though, I think non-invasive testing is great, BUT for the purpose of being prepared for the birth. Downs babies have alot of issues at birth, esp. with heart so you would want to know you are having a downs baby to give birth somewhere that was ready to deal with pediatric cardiology issues. THats my .02

  8. The invasive nature of CVS and amnio forces people to really think and weigh the consequences of a decision to eat from that particular tree of knowledge. Is it worth losing a healthy pregnancy so that you can possibly terminate one that doesn’t quite fit your definition of perfection? The risk of miscarriage with those tests at least makes the gravity of that path very clear. But if a test were risk-free…? I think there would be a lot more terminations, unfortunately.

    For the record, my husband and I were prepared to do CVS and/or amnio, but we were fortunate that our early ultrasound showed very low risk for any sort of chromosomal abnormality. Thus, we didn’t do more invasive tests, and our baby was born healthy. That said, I’m not sure what we would’ve done if we’d gotten an early diagnosis of Down syndrome. I’m not sure we would’ve had the courage to continue the pregnancy, which I think speaks more to our fear of the unknown than anything else.

  9. It is wonderful to have a test available that gives good results without the dangerous side effects of the more invasive tests. I don’t believe in god, but the testing and deciding what to do based on the tests is still a difficult moral decision that is 100% up to the woman carrying the baby. Not everyone has the same belief system and I really tire of “godly” people who pass judgement on everyone else. Make your choice and I’ll make mine. My choice to do genetic testing has no effect on your choice to have a child with this condition, and vice versa. If you are happy with your choice wonderful!! I’m happy with mine.

  10. We did get the triple marker test done. I don’t remember why I thought that it was a good idea to “know” in advance so that we’re prepared at birth. All it gives is probabilities and unnecessary worry to incessant worriers like me. Fortunately, the probability came out very low. I am thankful that I didn’t undergo any invasive tests. I probably wouldn’t have anyway but it would have added to my list of pregnancy worries, had the statistics played otherwise. As a mother, I now know. No to tests next time.

  11. We are blessed to say that we have a daughter with “designer genes”, she was born 4 years ago and diagnosed with DS after she was born. She is absolutely magnificent and we wouldn’t trade her for the world! I chose not to undergo any testing prior to her birth, as it would not have made a difference to us, and Down syndrome was one of the scariest outcomes for us at the time. We quickly learned that our daughter’s diagnosis is the least interesting thing about her, she is not defined by it, she is a person, just like you and I. She is breathtaking and beautiful and joyful. We have two ‘typical’ children as well, there are joys and challenges with each one, regardless of diagnosis. We wrote a booklet for new parents and parents-to-be of Down syndrome children sharing our experience. It can be downloaded online at, there are links to download the booklet ‘Celebrating Kayla’ and a link to the blog that we wrote for the first couple of years of her life. Down syndrome children are a blessing : )

  12. I had a prenatal diagnosis of Down syndrome with my younger daughter. People need to recognize that pregnant moms do prenatal testing for a variety of reasons – in my case, it was simply to confirm a diagnosis based on markers found on my ultrasound. Getting that diagnosis was initially very difficult, and we had all the same fears and worries that every other pregnant parent I’ve talked with over the past 7 years in getting a diagnosis of DS has had.

    At age 7, my daughter is doing phenomenally well – reading, writing, counting, dancing and enjoying school with her typical peers. Raising a child with DS has its challenges, but also great rewards. Life for my daughter is not HARD, as some people suggest is the case for most people with DS. She is a happy, thriving little girl with a bright future ahead of her. That is not to say that she does not have to face some additional hurdles, but in no way do we consider her presence in our lives to be burdensome, and neither does she. She has a wonderful relationship with her big sister, with her cousins, and with her peers.

    I do not object to additional testing per se, just to doctors who do not provide adequate information about Down syndrome to their pregnant patients. I have counseled too many expectant parents who were offered termination without any other information to consider, any names of organizations that they could contact to find out more about Down syndrome, any support for any other decision they might wish to make. In this day and age, if a woman’s right to choose means anything at all, she should be offered factual, balanced information about Down syndrome so she can weigh all her options and make an informed decision – in fact, a newly passed law, the Kennedy-Brownback bill of 2009, requires it.

    I would ask people who want to know more about Down syndrome to check out the beautiful, and well-constructed book that Stephanie and Nancy have written: Diagnosis to Delivery: A Pregnant Mother’s Guide to Down Syndrome, available free at, or to contact their local Down syndrome support group by visiting the National Down Syndrome Society. Get the facts about Down syndrome, and then make your decision. It might not be the same as mine, but I firmly believe that every pregnant mom should have access to information and resources before making a life-changing decision (and it is one, whatever decision you make).

  13. I don’t think I have anything to add except to say for me I wanted to know the sex and I wanted to know if there were any problems that I could mentally prepare for. For me, learning if my baby has down’s or whatever else would give me a chance to reach out for support, find groups, find the right help, etc earlier rather than later.
    .-= Almost Slowfood´s last blog ..Tasty Side- Potato- Bacon and Garlic Scape Hash =-.

  14. Very well said! I was so pleased when the Kennedy-Brownback bill passed, getting it routinely in use is another challenge.

  15. This is really just the tip of the iceberg. There are women in North America getting abortions when babies are the “wrong” gender, or have a minor cosmetic defect. As more types of testing become available, people will be making these choices more and more.

    I seldom see kids with DS any more. Perhaps soon I won’t see kids with other challenges either. I wonder how this will affect us as a society? To be honest, I can’t see this as much different than exposing babies with deformities, as was done in many cultures in the past.

  16. I think that it’s great that genetic testing is an option for those that want it and even better if the testing can be made less invasive and risky than amnio or CVS. I refused testing with both my kiddos, but I think it’s also important to remember that not all people who get a test do it because they’d have an abortion if the test came back positive. I probably would have done the testing if the ultrasound had shown something could be off, and I would have chosen it because I wanted to be prepared for what was coming. I agree with Amy that doctors need to offer something other than an abortion to parents who test positive. I work with kids who have DS all the time in the Special Olympics and they are far from “suffering with Down’s Syndrome” — they have full and wonderful lives with bright futures ahead of them, just like many kids do.
    .-= Heather´s last blog ..Ask A Doula- Treatment Options for Antenatal Depression =-.

  17. This is a tough situation. But I do strongly feel that it is also an individual choice. Many women might choose to abort because they may not feel equipped to deal with a child with DS. Conversely, they might not choose to abort but might want to be prepared ahead of time so that they can adjust and prepare.
    .-= sheryl´s last blog ..Please Watch to Bring Hope Alive =-.

  18. Yeah–I’ve come across a lot of Down’s kids at various places–museums etc. I think, “Wow, how could anyone have ever aborted that child?” I understand spina bifida because the baby will be born in pain and eventually die anyway. But Downs children can function well in society. I wish there was more education about it so parents had all the facts before making that decision to end a pregnancy. I’m totally pro choice, but I don’t think most parents even know what they are dealing with when it comes to Downs info.
    .-= Alisa Bowman´s last blog ..8 Ways to Build Trust =-.

  19. I had amniocentesis with my second child, since I was 36. It’s a harrowing test and I’m glad there are less invasive alternatives now. I agree with Sheryl and Alexandra that this is all highly individual — a choice to be made by the expectant parents.
    .-= Ruth Pennebaker´s last blog ..Swiveling Till I

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