MaterniT21 ™: The Prenatal Blood Test for Down Syndrome Is Here

Down syndrome diagnosis, new baby, Down's syndrome,I spent a lot of time over the past week mulling what I would say about today’s release of MaterniT21 ™, the new prenatal blood test to detect Down syndrome. Ultimately, I decided to say very little at all. The test isn’t bad or good – it merely provides information. What people do with the information is of greater concern.

I’ve provided a number of links to articles on the subject for your reading (bold emphasis mine).

Sequenom Announces Launch of MaterniT21 ™ Noninvasive Prenatal Test for Down Syndrome (Sequenom Press Release)

Sequenom’s Test for Down Syndrome Raises Hopes and Questions (NY Times/Andrew Pollack)


Similar techniques are already being used to determine the gender of the fetus and paternity. Some people worry that use of such tests early will lead to more abortion of fetuses with minor abnormalities, the wrong sex or an undesired father.

Sequenom could also face heightened skepticism because of its past problems. The company was preparing to introduce another prenatal Down syndrome test in 2009 when it abruptly announced that the data it had promoted to investors could no longer be trusted.

Safer Down Syndrome Test Hits Market Monday (ABC News/Katie Moisse)


In a Sequenom-sponsored study, MaterniT21  spotted 209 of 212 Down syndrome cases — a feat researchers say would  save lives.

Concern Trolling the New Blood Test For Down Syndrome


It is unseemly to be nostalgic for an era where a small percentage of women end up having children they wouldn’t have chosen to bear because the critical test was too dangerous, or because they’re put off by the prospect of a later-term abortion when they would have been okay with an earlier one.

The fact that many women don’t want to raise a child with Down Syndrome does not imply that a life with Down Syndrome is not worth living. Some women who are carrying twins or triplets choose to selectively abort because they are not up to the task of raising two or three babies at once. This says nothing about whether the lives of twins or triplets are worth living.

Seeing the Joy of Down Syndrome (Shine Parenting)

The first two comments in the feed at the time I drafted this post:

Keri: I have a 6 yr old son with DS–my first born and I thought my life was over the moment we found out. I had all the dreams any parent has for their child and thought those were all gone at the moment. Fast forward 6 years and our life is SO different than I thought it would be. There are challenges and moments when I wish I didn’t have to deal with the extra stuff it brings, but I couldn’t imagine not having him. He’s a sweet soul who has to work 100 times harder than any of us have ever had to do. Bottom line is he’s mine, whether I asked for it or not and couldn’t imagine it any other way.

Ggonza: sorry, just not a life I want for my family or my kid. Yes, they are amazing people, but you can never know if your child with DS will be high or low functioning and I have met both. Not cute when they are 30 and cannot feed themselves, and the idea of being 60 and still need to be a mommy to a 10 year old who is biologically 30, not going to work for me. is that selfish maybe, but I have that choice…and if they are not high functioning and you are not wealthy enough to support them while you retire (if you ever get the chance to) or upon their death, than what? So sad, but I just would never do it. Lots of respect to those that do, i cannot imagine what you must go though everyday.

Parents of Children with Down Syndrome Speak Out (Kansas City Star/Kim Hone-McMahan)


Dr. Harriet Feick, a neonatologist at Akron Children’s Hospital, broke the news to the Wilkinsons. Meghan said the thing she remembers most is that the doctor didn’t apologize.

“She didn’t say ‘I’m sorry’ because there is nothing sorry about this sweet face,” she said, nudging one of the boys who was sitting between her and Matt in their Cuyahoga Falls, Ohio, home.

Being upfront from the start with parents is important, Feick explained.

“Sometimes they hate you forever because, for some families, it’s not what they want to hear. And it is so upsetting … that they have to be mad at someone and it’s often the person who first delivers the news,” the doctor said.

But in time, Feick added, she is usually able to win them over. And it’s fascinating, she said, to watch a family go from devastation when the baby is born to undying love by the time they leave the hospital.

New Test Can Advance Preparation for Down Syndrome ( Surace)


Unfortunately, most of the buzz is about how this will be a means of “preventing” Down syndrome.

I fully support a family’s right to get information when pregnant. If only the test results came with an accurate depiction of what life would be like with a child who has Down syndrome. When the results are given with no updated information about what it is they are facing, I think I speak for most parents of kids with Down syndrome when I say, this could be very dangerous.

New Prenatal Testing: Are You Ready? (


Don’t waste time trying to stop the train. The testing is coming, and expectant parents worried about the health of a baby will take the test. If your efforts lie in fighting against the testing, or convincing people not to test, most of your efforts will be wasted.

For what I’ve written previously on this subject, read my thoughts on prenatal testing here.


  1. Kelley says

    I think this is a touchy subject for everyone. I was told at 20 weeks that my QUAD test came back positive with 1 in 90 chance of my baby being born with DS. I remember crying harder than I every have in my life. I called my husband and he discussed what the doctor said could be the next step and then I called my friend and we talked what would she have done because her QUAD was negative, but her Daughter was born with DS and she had no idea until her birth. We went ahead and had the genetic ultrasound and counseling and we were told they saw nothing on the ultrasound that would indicate DS and I had the list of what they should be looking for and what questions to ask just in case they missed something. It’s just my nature to do research. So once they answered all my questions, we did not have an amino. I prayed and ate alot those last 20 weeks of my pregnancy because I had a feeling that my baby girl was going to be born with DS and of course my friend thought I was crazy, but when I get those gut feelings they are never wrong. I never once prayed for God to take away her extra chromosome but I prayed for his strength to help me be a good Mommy to her and that I knew I could handle anything with God on my side. The day she was born and I knew that I was a member of “the club” as my friend calls it, I cried because the tests I had were wrong and didn’t want her to have to go thru all the challenges that either people told me or that I read. I wanted to more time to be prepared for this new life journey and my friend said “You can never be prepared because just as every “typical” child is different, so is every baby born with DS.” I still can’t say had this test been available at the time would I have done it. Only thing I can say is my “Sunshine” beings so much joy to our family and I can’t imagine life without her sweet beautiful smile or laugh.

    • Andi says

      What your friend said was Spot. On. I had the tests with my prior pregnancies, and the triple screen did show a possible issue with Sarah Kate. We went through the genetics “stuff” and they assured us that they didn’t feel that anything was wrong – and they were right.

      What they couldn’t have predicted was that I would have a placental abruption, causing her to come very early, be small for gestational age, and have cerebral palsy.

      After that experience, when I was pregnant with Nathan, we declined the tests – there’s no way to prepare for everything, and he was our son no matter what.

  2. says

    The “I don’t want to deal with a kid like that” are so very ignorant. If you don’t want a kid who isn’t perfectly healthy then you really shouldn’t procreate at all. What about people who do have a perfectly healthy baby who later suffers an illness or injury? Or what about people who have a baby with a rare chromosomal disorder? Not everything can be detected in utero.

    The test does a disservice to parents if it causes them to think that negative results ensure a perfectly healthy, typical child.

  3. Aundria Premo says

    I had the MaterniT21 and never even considered abortion. I’m completely pro-life…in ALL situations. I took the test to KNOW. Had anything shown up, I’d have had plenty of time to get educated on the baby’s condition. Non-invasive genetic testing is not a bad thing. You can’t change morals, test or not. Unfortunately.

  4. Anonymous says

    I did the test and I feel a great relief that this kind of diagnosis is available to the parents. The test gives a precious information that can be used in deciding about a family future.