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New Down Syndrome Test May Diagnose At Nine Weeks In Utero, Is It A Good Thing?

By Danielle Sullivan |

 down syndrome, new screening test down syndrome, genetic prenatal testing, pregnancy screening tests, down syndrome blood test,

A handsome, happy little boy who has Down syndrome

At the beginning of this year, we covered news that a new screening test for Down syndrome was on the horizon in Hong Kong. Now researchers are working on the new non-invasive test and they hope it will be available in the United States by next year.

Typically, if pregnant women want to know if their baby is at risk for the disease, they must undergo an amniocentesis which is a needle that is placed into the amniotic sac in order to extract amniotic fluid. This can only be performed at close to four months gestation or later. CVS, or chorionic villus sampling is another screening test that be done to detect the risk of Down syndrome. This test, also invasive, collects a bit of tissue from the placenta. Both pose a very small but real chance for miscarriage, and experts say that highly skilled practitioners are necessary but not always available in all hospitals and medical centers.

Researchers are now saying that within one year’s time, a simple blood test may be available that offers the same accurate results as early as nine weeks into the pregnancy. A test such as this would spare many women the need for an amnio or CVS by retrieving fetal DNA from the mother’s bloodstream.

A breakthrough such as this would let women know if they were carrying a fetus that tested for Down syndrome before the pregnancy is obvious to others and before the fetus grew large enough to be felt by the mother. It could make abortion in the cases of Down syndrome more likely. Some say women haven’t bonded that much at nine weeks and some might not even have told their husband so abortion may be an easier decision. Today, most cases are diagnosed after birth now, but with this new blood test, it could become a prenatal event.

Down syndrome slows mental and physical development. People with Down syndrome usually show mild to moderate disability in intellect and skills for everyday living. Physically, they often have a flat face with a short neck and smaller hands and feet. They have a higher risk for complications such as heart defects and hearing problems, and life expectancy is roughly 60 years.

The decision to keep a pregnancy in the case of Down syndrome is a personal one. When it was offered to me, I declined it because I knew that no matter what, my baby was with me for the long haul. I told my midwife that the results wouldn’t matter because I was having my baby anyway. Had he been born with Down syndrome, I wouldn’t have regretted having him. I know kids and adults, beautiful human beings, who are living with Down syndrome and have very full, engaged lives.

An Associated Press article reports that Dr. Brian Skotko, a Down syndrome specialist at Children’s Hospital Boston who has written a research paper for doctors on how to deliver a diagnosis, said “the vast majority of people with Down syndrome and families affirm that their contributions to their communities are significant, and their lives are very valuable.

Erin Witkowski of Port Jervis, N.Y had an amniocentesis that was showed her baby would have Down syndrome. She says when her doctor started talking immediately about abortion, she changed doctors and gave birth to Grady in February 2010.

“When they first gave him to me,” Witkowski said, “I saw tiny little hands, and he had the most beautiful eyes… He didn’t have `Down syndrome’ stamped on his forehead. He cried and he peed and he pooped. He was a baby.”

One great benefit from a new earlier screening test, is that it would also give moms more time to come to terms with the diagnosis and seek support. There are many groups and associations that help families affected by the disease.

Did you have the typical prenatal screenings? Would a positive diagnosis have changed your mind about continuing your pregnancy?

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About Danielle Sullivan


Danielle Sullivan

Danielle Sullivan writes for Babble Pets. She is also an award-winning parenting writer, who authors a monthly column for NY Parenting and ASPCA Parents blog. You can read more of her work at her blog,Some Puppy To Love. Read bio and latest posts → Read Danielle's latest posts →

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14 thoughts on “New Down Syndrome Test May Diagnose At Nine Weeks In Utero, Is It A Good Thing?

  1. goddess says:

    Yes, it’s a good thing with the climate in this country setting the cutoff for abortion back further and further. Amnio puts women very close- and some over- the window for opportunity to abort in many states.
    I had amnio with my last- being older- and would have aborted for fetal anomaly. And the rate for aborting for T21 was 92% in 2008, so I’d surmise that the rate might even increase for an early diagnosis.
    I’d have been much more relaxed to have gone through my last 2 pregnancies without that worry.

  2. DKL says:

    I refuse to do any invasive pre-natal testing that might result in a false positive. What scares me about these tests is that they are not 100% accurate and you could possibly be aborting a healthy baby with no anamolies. There are so many stories out there of women who are told that have a high likelihood of having a downs baby and then it turns out the doctors were wrong. My husband and I were older when we had our last baby, but we decided to put our faith in God. If the baby had been born with DS, we would have loved and adored him just as we do our other children.

  3. jenny tries too hard says:

    I would never have an abortion, but early prenatal testing just makes sense. I’ve been surprised to have a child born with special needs; I can’t help but imagine that it would have been an easier and, yes, happier day if I’d had some time to read and learn about my daughter’s condition, some time to adjust.

  4. WhitneyJo says:

    I don’t know if this is a good thing… By having an amio you can already know almost 100% if your baby will have Downs or not. The only thing I can see it doing is increasing the abortion rate, which is terrible.
    I have an eight month old son with Down syndrome and he is so great. I did have an amnio so I would be ready for the news when he was born. I wish people who get this news could see what a joy a person with DS can be.
    If you can’t handle accepting a child for who they are…special needs or not…you should be on birth control. I am not pro-life…I guess I’m pro-responsibility or pro-contraception.
    If anyone wants to see what a chromosomal “anomoly” looks like you can check out my blog. Daniel is an adorable, healthy, happy little man. There is nothing “abnormal” or “bad” about my son!

  5. Andrea says:

    You CANNOT know 100% that your baby will have Down’s Syndrome! I personally know TWO couples who were told all the markers for Down’s were present, wrestled with the decision and ultimately decided not to kill their children. And guess what? NEITHER infant had Down’s.I never had any screening of any kind (not even an ultrasound), as it would not have changed the outcome in my situation. But it is completely false to tell women that the screens are 100% accurate. Many healthy babies are aborted by parents who do not value human diversity.

  6. jenny tries too hard says:

    @WhitneyJo I kind of think having only the late-stage (and risky) amnio is more likely to result in abortions. If women know they have only a short time to decide whether or not to continue their pregnancy after they receive a tentative diagnosis, they are probably more likely to make a hasty decision. It’s just common sense; urgency makes for poor decisions.

    Again, it’s a shame that the knowledge of a child’s special needs might be used as a reason to terminate, but it’s still important and worthwhile for parents to have plenty of time to prepare for the challenge and to learn how truly *not* hopeless raising a child with DS or any other special needs is. Knowledge really is power, here.

  7. Emma says:

    On Monday I gave some of my blood and my husband did the same to be put forward for this research, to be sent to Hong Kong. I am pregnant with my 3rd child, my first has DS. As far as I aware this research is still at the testing stage, near to the end I was told. And it will still be a few years before we know how accurate this will be. Testing at the moment is terrible, you either risk your baby by having an CVS or Amino, or you have a test which just gives you a percentage figure. For this pregnancy decided to have a blood test combined with a nuchal measurement and it came back as a 1 in 30 chance. I personally couldn’t terminate a child with DS, so did not have an amino, up until Monday and I am now almost 36 weeks pregnant. Since finding out the blood results and now, we have constantly worried about how we would cope with 2 children with Down’s syndrome. Lucky for us we found out on Tuesday that this baby doesn’t have DS. I would have loved to be been able to be tested at 9 weeks and told my baby did or didn’t have DS.
    Yes more babies with DS will probably be terminated, but those parents would have gone on to have amino anyway and probably terminated. I just think that when it comes to my children having children they will not have to go through the stress that I have over the past 20+ weeks.

  8. goddess says:

    @Whitney Jo: I already HAD a child with special needs. I buried him at age 6. Been there, Done that., Bought the t shirt. Would NEVER sign up for that willingly, nor EVER put my family through that again. We have 3 kids now who get to have a normal childhood that is centered on the family as a whole and NOT just one member with special needs, whose needs are always more important than those of the typical kids. YOU make your choice and let others do the same.
    If women were denied the chance to abort for flat anomaly that waiting list for kids with DS would revert to a waiting list for placement in residential care, more than likely.

  9. goddess says:

    @Andrea: I find that hard to believe that they actually had a chromosomal anomaly via amniocentesis or chorionic villi sampling. Sounds like they had a blood serum test like the triple maker with or without a followup up Level 3 ultrasound to check for markers- none of which come close to the accuracy of DNA sampling.

  10. Voice Of Reason says:

    @Andrea, like Goddess, I’m finding your comment confusing as well.

    A test whose results reveal markers for chromosomal abnormalities (for example, a nuchal fold ultrasound combined with blood work) would *never* tell you 100% whether your child had Down Syndrome. This is because the sole purpose of these screening tests is to calculate risk, from which results parents would make a decision regarding invasive DNA testing (CVS or Amnio). These tests would provide a conclusive result (although I’m sure nothing is 100% accurate).

    I’ve never in my life heard of anyone considering terminating a pregnacy from an existing screening test. Anyone who does so simply isn’t getting correct medical advice. (In fact, I’d really question the healthcare provider’s credentials.)

  11. goddess says:

    Correct you are Voice. I believe the rating is 99.8% accuracy, with.2% off for user error.

  12. Linda,T.O.O. says:

    I think I’d want to know, just to be prepared. I had my last child at age 40 and had the combined blood test and nuchal fold measurement at 9 weeks gestation. The result was that the baby had a 1 in 20,000 chance of having DS so we didn’t have any additional testing and forgot all about it. I just can’t see how more information could be a bad thing. The people who wouldn’t abort for that, still aren’t going to and the ones who are, still will.

  13. mamasport3 says:

    Tough issue…after having three kids (one with intellectual special needs) I know that you can never predict how a child is going to turn out. Every child has some “special need”, some are just more pronounced and require more work. I believe every parent wants the perfectly healthy baby, but anything can happen in life at any time. I see both sides of the issue. I chose to do no extra prenatal tests aside from basic ultrasounds. However, I might choose differently if a simple blood test was available just so that I could be prepared (as much as possible) and love my child for who they are.

  14. Winnie says:

    Just want to mention a couple of points:
    T21 is in no way a disease, it is a medical condition that people are born with, and can have happy productive lives with.
    I’ve read that the elective termination rate is currently about 96%, so theres no a whole heck of a lot of room for it to go up, but sadly, it probably will because the public at large is not educated as to how awesome people with T21 generally are!

    Also, I do have a child with DS and my feelings on the subject were very different before her birth, but I can say now, that having her in our families life has been the best thing that ever happened to us, not a burden or situation where all the focus and attention must go to her — unfortunately, our 2 year old (non T21) takes center stage all the time ;)

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