MaterniT21: A New Option for Down Syndrome Testing

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When I approach the topic of genetic screening in pregnancy with my patients, I am often  interrupted with a condescending smile about half way through my spiel.

“No, thanks.  We are CHRISTIANS, therefore we would never terminate a pregnancy.  We will love this baby no matter what.”  Often this reply takes on a southern  “why bless your little heart”  type of tone.

Because this is now a popular political football, moms should know that there are many reasons for genetic screening other than termination. Actually, in my 11 years of delivering babies I have never seen a patient who elected to have a termination due to the results of a genetic screening test. Having the testing can provide reassurance to perceived high risk moms and can help those who receive the diagnosis to better plan for the challenges ahead.

I spend a lot of time in our book discussing the many options for genetic screening. Many women get peace of mind and reassurance from having the testing. Having a normal test result is extremely comforting. Having a peaceful, faith filled pregnancy is the entire purpose of our book. And to me this is an important topic to consider in order to have the most peace-filled pregnancy possible.

Women over 35 often worry about being at higher risk for having a child with down syndrome. While the risk does increase with age, most down syndrome babies are born to women in the low risk age group, because these women HAVE the most babies.  This is why we make testing available to all moms.

For more discussion on age related risks check out this previous post.

There are findings that can pop up on ultrasound called soft markers. One of these findings can be seen on up to 4% of normal pregnancies, but also can in certain instances be associated with down syndrome. In most cases they are not (yes, confusing I know) and they can cause undue stress if genetic testing has not been previously preformed.

While I have no doubt that you would love and cherish a child born with down syndrome, having a child with special needs does change your life. Being able to plan ahead by meeting with support groups and mentors can be very valuable. Special needs children can often not attend traditional childcare centers, so being able to plan for childcare can be essential.

Knowing about abnormalities can help you and your doctor plan for delivery. For instance, if the baby has down syndrome (or any other type of syndrome), it is often helpful to deliver at a larger hospital with a neonatal specialist on staff. These babies can sometimes have special needs after delivery. Up to fifty percent of babies with down syndrome will be born with a heart defect, so delivering at a hospital that has a pediatric cardiologist on staff would be beneficial. As another example, babies who have spina bifida are usually allergic to latex. If your doctor knew ahead of time, special precautions could be taken at the time of delivery. So, testing can have an effect on pregnancy management.

A new test that has recently become available is the MaterniT 21.  This is a blood test that can be performed at any point after 10 weeks that can detect down syndrome with a sensitivity of 99%.  The test amplifies DNA particles and looks at free circulating fetal DNA. This test seems better than traditional screening tests (such as the QUAD screen) because it can be performed at any time and is more accurate.  It also does not have the risk of miscarriage that can be seen with amniocentesis.  The technology is quite amazing if you think about it.

One of the biggest issues people have with the other screening tests is a high false positive rate (up to 20%).  Meaning that the results come back positive 20% of the time when everything is actually OK, which can definitely cause some serious anxiety. The data on the MaterniT21 also shows a false positive rate of .5%, which is extremely low and thus is a huge benefit. It is currently approved for women over 35 or other risk factors for down syndrome (e: abnormal QUAD screen).

Genetic screening is not for everyone.  It is a very personal decision that each women should prayerfully make based on her situation and risk.  I attempt to lay out the options for my patients and let them decide what they feel is right for them.  This additional option gives them one more choice that is accurate and doesn’t have a risk of miscarriage.

Correction: The first version of this post stated that MaterniT21 was FDA approved.  This is not correct.  The data from the initial trials have been published in peer reviewed journals and is ontrack for approval for 2013.

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Comments

  1. 3

    Mark says

    Um, I think your facts are a bit out of whack Doc. The test you speak of is NOT FDA approved and has not even registered a trial with the FDA yet.

    Also the 20% amniocentesis false positive rate is way off. It’s actually about 5% (95% accurate)and most studies show 90% abort.

    • 4

      says

      Yes. I clarified the lack of FDA approval. However, technically a lab test is not required to be approved by the FDA.

      AMNIOCENTESIS is a diagnostic test, which you are correct has a low false positive rate. The QUAD screen and Nuchal transluncency are the screening tests I was referring to and they do have a false positive rate of between 10-20%

      There is only one randomized controlled study that looked at termination rates after a positive amnio and it was performed in Scandinavia in 1986 {Tabor et al, Lancet. 1986; 1 (8493): 1287}. It had 15 abnormal amnnios that led to 11 terminations. I do not think we can apply a smallstudy done 20 years ago in Europe to the US population today. We do not have accurate current data on the percentage of terminations associated with abnormal amnios in the US currently. I can honestly say I haven’t seen it happen in my practice.

      Our heart at the Pregnancy Companion Blog is to help women walk out their pregnancy with faith and not fear. Having genetic screening for a lot of women is very reassuring and helps them reduce their anxiety. I am by no means saying everyone should have testing, but they should know what their options and risks so they can make an educated decision.

  2. 6

    says

    This is a very sensitive subject, and personal to each woman of course. I’ve seen so many women have the quad tests and then deal with tremendous fear and anxiety only for it to turn out to be “nothing”. It surprises me that it’s only a 20% false positive rate to be honest. Seems everyone I know that’s had the quad with scary results have gone on to either terminate out of fear/anxiety or have “normal” babies.

    I am not against screening, but I think the quad screening leaves much to be desired.

    I chose not to have the quad but then had three soft markers with my son at our 19 week scan. Then we went on to discover other “red flags” along the way on top of the soft markers. We had to do a lot of processing and soul searching in regards to the possibilities. We decided against the amnio since it seemed if there was an abnormality it would be tris 21, not 18 or 13. Had there been stronger indication of 13 or 18 then the 1-2% chance of miscarriage/stillbirth would have been “worth” the knowing and ability to prepare for having a baby with a terminal abnormality. We were thrilled when I went on to deliver a perfectly heathy and “normal” little boy!

    “There is only one randomized controlled study that looked at termination rates after a positive amnio “. From what I understand an amnio has to be done between 22-26 weeks or something similar? By then in most places termination isn’t legal. (Please correct me if I’m wrong?) If that’s the case, then of course there would be an extremely low termination rate. In the UK 92% of women who discovered they had a child with DS terminated. That’s shockingly high. I don’t know which type of testing the women in that study discovered DS, but I know that is an extremely high rate of termination, especially considering DS itself is not a fatal abnormality. I never found up-to-date stats for America, but was continually seeing 9 out of 10 rates for termination of DS babies.

    A blood test that is as accurate as you’re describing sounds amazing. Non-invasive and accurate. To me that’s a whole different ball game than the sketchy quad screenings or the soft markers that can indicate something or nothing. Still, as you say, screening is a very personal choice.

    I’m grateful for modern medicine and ability to gather information for our families, but I can’t endorse quad screening when I’ve seen it cause so much unnecessary grief and stress and heart ache in women. Obviously if a friend was to want one, I’d support her. But I’d never personally recommend it.

    Just my two cents as a mom who’s been through it. I’m obviously not qualified professionally beyond that. :) Thanks for an interesting post.

    • 7

      says

      The QUAD screen is a screening test. A screening test is meant to be reassuring if normal, but if abnormal a diagnostic test should be performed for confirmation. A QUAD screen does not DIAGNOSE down syndrome. Decisions should NEVER be based on a screening test alone.

      I attempt to counsel my patients on this fact before the test is performed and also of its high false positive rate.

      I agree that it is not a great test, that is why I wanted to write about this new option.

      Amnio’s are commonly performed at 15 weeks and beyond.

      I couldn’t find the source for your UK statistic. Do you have a link?

      Thanks for your feedback. Congrats on your beautiful baby boy!

    • 8

      Angela says

      Adriel- It is wonderful that you gave birth to a healthy boy.

      My son had one soft marker-fluid around the kidneys which cleared up by the second level 2 ultrasound. I did not have any of the other tests-NT or AFP. I also turned down an amnio. However, my story did not turn out so happy- my little boy’s heart stopped beating at 35 weeks.I found out that he had Trisomy 21 from his autopsy, instead of a test or screening. Before he passed there were no heart abnormalities noted on any of the 3 level 3 u/s(one done the day before he passed because I noticed decreased movement0. I thought the same thing “It doesn’t matter because I wouldn’t terminate” Had I known there was a non-invasive test available or that fatal heart defects can be associated with Down syndrome, I may have gotten additional testing done, like an fetal echo. It’s possible that he may have still passed away, but I’ll never know now and I will always wonder if something could have been done.

      I hope that more MFM specialists that do level 2s and find soft markers make this information available so that we can make a decision based on all the facts. Honestly, to choose between being nervous for a few months over something that turns out to be nothing or burying your child before you even get to meet him…well, I think you know which one we’d all choose. I can’t go back and change things now, but I hope to get the word out so that mom’s have all the information and no regrets.

      Missing my little boy everyday…

  3. 9

    says

    Wow! You brought up some interesting and valid points that I had never considered. Thank you! Also I have a really positive prenatal testing story for you sometime.

    I do want to add one thought as a mom to a child with Down syndrome. My son and our friends who have Down syndrome or other genetic abnormalities are such huge blessings to my life personally and to the lives of my “typical” kiddos. These children are not burdens! Yes, having a child with special needs does change your life. It sure can complicate it. But it also can help you appreciate what is truly important and teach you to celebrate the small things. My son has brought much joy to me and to his siblings and his grandparents. I cannot imagine life without him.

    I know this diverges from the purpose of your post, but there is so much misinformation still out there (not coming from you, of course) that I think that this point should be made any time something like prenatal testing is discussed. It is easy to see the negative side, but the positive side is not so apparent and therefore should be brought to light, especially since so many women are not blessed to have you as their doctor to be able to discuss this with you in person. You could very well save lives.

  4. 11

    says

    “Actually, in my 11 years of delivering babies I have never seen a patient who elected to have a termination due to the results of a genetic screening test.”

    Where do you practice? I have talked to NUMBERS of women who have elected to terminate due to genetic screening…but aside from that anecdotal evidence, do you believe the 90-93% statistics are untrue? I might be misreading something here, forgive me if that is the case.

    • 12

      says

      I have practiced in the south for 7 years and NO I have never had a patient choose to terminate based on genetic screening results. Yes, anecdotal. I do not think that 90% of women terminate in US. But I can’t find any good US statistics to give a specific number. My point in writing this was to give my opinion, that genetic screening can be reassuring in pregnancy.

  5. 14

    says

    I just read this post: http://babynumber10.blogspot.com/2012/03/saving-down-syndrome.html which linked to this more recent (2005-2006) study. http://www.bmj.com/content/337/bmj.a2547.full
    This is still not in the U.S., but interesting nonetheless. I had never heard of this one and thought you might be interested. I often see the 90% statistic tossed around in advocacy groups and wonder where it comes from and doubt its accuracy. I saw the UK study above and the old study you referenced, but hadn’t seen this Danish one or the New Zealand info referenced in the post. I still doubt the 90% stat in the U.S.A., but I am afraid the true statistic is still chillingly high.

    • 15

      Ed says

      The prenatal diagnostics test is information only. There are parents who have high expectations and definitely will not want down baby. There are also more religous parents who believe the down baby is the gift who bring joys to them. I believe every one should have the option to know whether their unborn baby is healthy or not and make their own decisions.

      Having a down baby will change your lifestyle though and you may need to pay extra financial and emotional resources than having a normal baby. Down baby advocates should focus their times to set up networks and funds to take care of down child especially when they become adults. A lot of times I see those advocates attack new medical innovations simply they are afraid to see the population of down baby shrink so they lost the government support. This is a very selfish thinking.

      • 16

        says

        Ed,
        Thanks for your comments. I agree that every women should have the opportunity to have prenatal diagnostic testing if she choose, to prepare for the challenges that may lay ahead.

        You comments that down syndrome parents are financially motivated are perceived to me as inaccurate and will most likely be offensive to any such moms that read your comments.

  6. 17

    Tracy says

    Hi – I am 35 and am 10 weeks pregnant. My doctor and I discussed the NT scan and the MaterniT21 testing today. My husband and I have decided to do the MaterniT21 testing however I am unsure if I need to also do the NT scan as well to give more insight into the possibility of a trisomy. Are there advantages to doing both? If the NT scan is recommended along with the MaterniT21 do we still need to do the standard NT blood work? Thanks in advance.

  7. 20

    Charlie says

    My wife and I were recently told that our MaterniT21 test result came back positive for DS. Of course, we are devastated and the past few days have been an emotional roller coaster for us. We are scheduled to meet with a genetic councilor and will also do an amnio since my wife is 37 years old. I am holding out hope that we have a different outcome, but I understand that the MaterniT21 test is 99% accurate. Do you know of anyone who has had different results with an amnio? We will be at week 15 when we have our amnio done. We are weighing all of our options at this point. I don’t know if we are financially and emotionally able to support a DS child as we are already caring for our other 2 yr old son. Can we count on this Materni21 being the real deal? Thanks for your help.

    • 21

      Jessica says

      Charlie, I am so sorry for this tough news. I will let Dr. Rupe answer your question but I just wanted to say, I will pray for you and your wife during this time.

    • 22

      says

      The test is still new so I have only had a limited number of patients have the test, of those I have not had any false positives. I think awaiting the information of the genetic counselor is your best bet.

  8. 23

    LJ says

    I am 40 years old and in the 17th week of pregnancy. At week 14 I had the quad marker screening. My risk for Trisomy 13 went from 1 in 2300 to 1 in 13. My husband and I then opted for the Materni 21 test.

    Today I was called my nurse and told that the test was ‘non readable’ and I will be having the blood drawn again tomorrow with another 2 week wait for results.

    My question is what are the chances that my test (run twice) would be non readable. The nurse explained that the amount of the baby’s chromasomes were not enough to get a reading, or the mother’s weight might be an inhibitor. What are the chances that a new blood draw will produce different results? What are the chances that the first test would be ‘non readable’?

    My Quad screening detected issues in the Nuchal translucency test, and my beta HCG was ‘extreamly low’ (if I remember correctly). My doctor’s office seems to take these results very seriously, almost to the point of ‘somber’. If the quad screening was just ‘predicting’ is the increase from 1 in 2300 to 1 in 13 a greater increase than usually seen in these results? I know that the quad screening have many false markers. I guess what I would like to know is since there was such a drastic increase that is is unlikely that there would be a false positive. What is the typical markers for screenings, and at what point of increase do the doctors recoment additional testing. Is there any data regarding screenings of 1 in 13 or greater.

    Any help sorting through the next two week would be greatly appreciated. Like most mothers on this site, terminating is not a considerable option for my family, and the waiting, and wondering seems to be endless.

    • 24

      says

      The quad screen is a screening test, so it does have a large number of false positives. Having the materniT21 come back indeterminate is not bad or good, it does just mean that there weren’t enough fetal cells in that particular sample. This does happen from time to time and the repeat sample usually gives the answer. Having a formal US may also be a useful tool while you are waiting.

    • 25

      JD says

      I also had the MaterniT21 test done as I was told I had a 1 in 5 chance of Trisomy 18/13 after my quad screening. After nearly a week of waiting I got a call from the nurse saying the same thing – not enough Fetal DNA in the sample, which was very frustrating to hear. I then had another blood sample drawn and now I’m waiting again. I really hope that this sample works! I will be very upset if it comes back as “non readable” again after waiting nearly 4 weeks. I wish they had told me that there was a chance the blood test wouldn’t have been readable. I am on pins and needles waiting.

      • 26

        Jessica says

        Hi Jane, I am thinking about you and praying for you as you wait. I know it’s hard. Hang in there. Blessings to you!

  9. 27

    says

    Hello EVERYONE! I was devastated with a phone call at work from my Fetal Medicine doctors office. I was at high risk with for my unborn baby to have DS. I had the Quad screening test where bloodwork was drawn then 2 weeks later bloodwork again to finish the test. How accurate is it? HELP! I fall in the 1 to every 270 births catagory the nurse said. I have no family HX of DS in my family nor my fiances family, I just have 2 autism cousins in there teens already. I’m just scared and stressed out of course. I will LOVE and CARE for my baby no matter what, but I just want to know so WE can prepare ourselves. Was thinking about the MaterniT21 test? How accurate is it? When I went for my last 2 ultrasounds I was never able to get my baby’s neck measured for the fluids because my baby was always on it’s head (A dancer already). Please HELP! I need some feedback! THANKS!

  10. 30

    Yolanda says

    I am considering having this test done. My insurance ofcourse wont cover it because is not approved by the FDA. I am wondering why this new finding haven’t been submitted to the FDA. As good as it sounds one would think that the FDA would want something that is safer. Please advice.

    • 31

      says

      The FDA does not require that lab tests be approved at all. However the companies often do go through the process to help validate themselves to insurance companies.

  11. 32

    Serina Gomez says

    Hi, im 36 yrs old and currently 14 1/2 weeks preggo, and I took the Maternit21 test at 10 1/2 weeks and it came back non-readable. I took it again at 12 1/2 weeks and it again came back unreadable. Is there a need for concern? Also why would it come back unreadable twice?

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