Higher Risk for Downs Syndrome - Materni21 plus test Thoughts and Experiences

autumnbride07 · April 2014

Hi Everyone,

I am 30 years old and due with my third precious baby on September 14th. My doctor called me this morning and shared with me that the results from my quad screen show an elevated risk for downs syndrome. My risk shows 1/206. She recommended that we either go to a larger hospital (I live in a small town) and do an extensive ultrasound possibly followed by an amnio or that I have the Materni21 plus test done. We both felt the better/safer option would be the Materni21 plus test so I went in and gave blood for that today. I am feeling very nervous and scared to get the results right now and I guess I'm just looking for those of you who have had elevated risk based (what were you odds) on your quad screen and if you had the testing or not and what your results were. Thank you so much in advance for your support!

mrsH1112 · April 2014

Sorry I have no experience, (we were offered Materti21 because im 34 and at a slightly elevated risk) but decided against it.

I just wanted to say good luck.

autumnbride07 · April 2014

Thanks you! We decided to go ahead with the testing because if our child does have Downs Syndrome it would be best to deliver at a larger hospital.

emmylu30 · April 2014

Sorry you're going through this. I only had the Quad Screen done so cant give you a comparison of Quad vs. MaterniT21 but wanted to offer my support. My risk was 1/561 with the cutoff of 1/270. I know others will probably mention this but the odds are still highly in your favor with only a .485% risk. Another thing to keep in mind is that the Quad Screen is only 75-80% accurate in detecting Down Syndrome and has a high rate of false positives. If I was you I would have done the same exact thing with the MaterniT21. From what I have read the MaterniT21 gives 99% accuracy for Down Syndrome so you should have a better idea of risk from that. Sending positive thoughts and let us know how it turns out.

LucilleAustero · April 2014

When I was pregnant with DD, materniti21 did not exist yet, or if it did, it was still really new. We didn't do the NT or the Quad, but her A/S went all sorts of wrong. We were immediately referred to a high risk doctor and we were told that our child would not live to birth due to either Edwards or Patua Syndrome.

We opted to have the amnio done, as it is the only diagnostic test available. The amnio revealed that nothing was wrong with her. She was perfect and pink and screaming her little head off.

The way I look at it, knowledge is power and peace of mind is a beautiful thing. Looking forward to a great update from you.

Ceridwen21 · April 2014

Knowledge is power. Wishing you all the best.

brittneyandadam · April 2014

Just wanted to wish you luck

mrsdanielleM2010 · April 2014

If you have choices about who will be on hand for delivery or which hospital to choose, I would take them up on Materni21. Good luck for clear results if you decide to get any other testing. It's still pretty wonderful odds all is perfect, I'll be thinking of you.

anewadventure · April 2014

i know you will be worried during the wait, but you should try to focus on the positives that you now know:
- the maternity21 test is very, very accurate
- the quad screen has a high rate of false positives, and only gives a risk factor, not a diagnosis
- a 1/206 chance is actually less than one half of one percent!

more good wishes from me. try not to dwell too much as you wait for your results...

ChesTal · April 2014

No experience, but t&p for good news.

Bella2425 · April 2014

So sorry you got scary results. My NT scan blood work also came back with a high risk of Down Syndrome. My risk was 1/22, so pretty darn shocking. I did the Mat21 test and needless to say that week waiting was the most anxious week of my life. Our results came back negative and I can't even tell you how relieved we were (even though no matter the outcome, we would have loved and cared for our baby).

Just remember the odds are very much in your favor and the test is very, very accurate. Hang in there.

hpragolini · April 2014

I don't have personal experience but wanted to share my thoughts. I agree with everything pps have said. Also wanted to share that a friend of mine has a beautiful awesome daughter who has Down's. She can be a handful at times but is also a very funny compassionate girl. Loves to have fun dance knows all the Disney songs. You get it. I mostly wanted to say yes its a struggle sometimes but it's also a blessing too.

Good luck with all of your testing. Happy healthy thoughts headed your way.

Edited for auto correct

poptart109 · April 2014

We had a 1/200 risk according to the quad screen with DS. There were no other options other than an NT scan and amnio at the time so we chose NT. he's a perfect little boy and we were told so at the scan also. Good luck, I'm sure everything will be ok.

Corryn23 · April 2014

Hi...in our last pregnancy our nt scan was 10mm and ds risk was 1/2 chance I had cvs which came back all clear however baby developed fetal hydrops and she passed at 20 weeks. So you can have the worst risk for ds but it still be ok I guess is what I'm trying to say! All the best

dani0783 · April 2014

We had a 1/144 chance and our panorama back just fine! It's an awful wait but try to stay busy.

jortiz780 · April 2014

Sorry to hear you are going through this. T&P to you.

MMason12 · April 2014

Good luck!! I would habe done the same thing ifI were you, especially if the outcome would change what hospital we should deliver at.

jg1011 · April 2014

We had higher risk for Down Syndrome. With my DS based on NT and Genetic scan.....really scary numbers. We opted to wait for 20 weeks scan bc I wasn't doing Amnio. 20 week sono showed my boy was perfect. It WAS a long wait and agonizing to get to the 20 week sono. This time I am 40. Dr recommended Materniti21. DH and I jumped on simply bc I couldn't do the grueling wait again. Results came back great. But, like you, I would have changed hospitals If it had come back positive. Good luck. I'll be thinking of you.

kayemgi · April 2014

I posted in the thread that jpfeifer mentioned as well but the short version is we were told we had a 1/2 chance but based only on the scan, our doctor jumped immediately to doing the MaterniT21 and didn't do the quad screen, so I don't believe our odds were really 1/2. But our DNA test came back just fine. Good luck to you!

mcstrepp · April 2014

No experience but wanted to offer thoughts and prayers

autumnbride07 · April 2014

Thanks you, thank you so much for all of your support and for sharing your stories! What an amazing group of women on this board. I will definitely fill you in when we hear the news. We are trying to stay busy this week and to say positive!

[Deleted User] · April 2014

Lurking from another board. I was low risk with odds of 1 in 10000 for Ds. I chose not to do further testing and did not have the Mat21 test done so I cannot help in that regard.
We had a surprise diagnosis of Ds at birth for my DD. She has no health issues. But having a child with Ds is no different than any other child. Yes she will have difficulties in life, but doesn't everyone.
I would not worry about odds so much since I had such low odds, but for piece of mind in the future I want to have more tests done to know for sure if I willbhave another child with Ds. Good luck and hopefully your tests come back negative. PM if you have further questions.

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