TW: Maternit21 positive for Down's Syndrome

ArchyFlores · October 2016

Sorry not to have been so active this last week, but last week we received the news that our Maternit21 testing came positive for Down's syndrome. Honestly, it was a punch in the gut. The test said it was 99.1% accurate for predicting Down's syndrome, but from what I can find online there are cases of false positives. I'm hoping we're one of those.

We are having a more detailed ultrasound and then meeting with a specialist on Thursday to see our options, but the only thing I can think of is that we're going to have to wait to do an amnio at 16 weeks. I'm 13w4d, so it's going to be the longest 3 weeks ever.

Do any of you know of any false positives on Maternit21?

blessedinmt · October 2016

Oh no!! I am so very sorry that you're dealing with this. Have you had an NT scan? You need to have it by or on 13w6d. I would demand it. The measurement may give you some more information (for example, a small measurement would indicate a possible false positive on the NIPT). You'll still want to get the amino, but waiting so long for confirmation...ugh...my heart goes out to you.

mrsstuessy · October 2016

That is tough. I have no experience or anything to recommend. But, I am thinking of you as you absorb this news. Hopefully it is a false positive, but either way I hope you get some clear answers so at least you know.

HGRich · October 2016

Like @mrsstuessy I don't have any experience but I will be thinking of you too. Keep us updated here. We're pulling for you and baby, whatever you find out.

dam0ne4 · October 2016

I hope you are a false positive situation. My dr told me the only thing that is definite is an amnio. Keep us posted

ArchyFlores · October 2016

Thank you, ladies. I only had the u/s portion of the NT scan. When we arrived the PA did a hard sell for the Maternit21 test. I saw that it was going to cost $160+ out of pocket (I called my insurance from her office) and I said that I would only take it if the scan was off.

At the ultrasound the tech took about 12 measurements, all were under 3(mm? can't be nm), which is normal. At the very end she got two measurements: one of 3.14 and one of like 3.5. I saw the PA right afterward and she said that because they had two measurements above 3 that the NT scan was going to show up as abnormal. My husband and I both thought it was suspect but thought to get the Maternit21 test anyway.

So now, we've been down the conspiracy theory hole in the internet and aren't even sure of anything anymore.

DH has a cousin with Down Syndrome who requires round the clock care. He is in his mid-30's and cannot bathe or wipe himself. We are so scared.

kayham12 · October 2016

I'm so sorry. I unfortunately don't have a false negative story. My DD was diagnosed with Turners Syndrome with the same test. My heart goes out to you because I remember getting the call you got and feels like someone took your heart and ripped it right out of your body.

twistsandturnsto2 · October 2016

I'm so sorry for the results. I wish I had some advice for you, but I don't have any experience to share. Try not to get ahead of yourself until you get clear results in.

My thoughts will be with you.

herewegrow · October 2016

No advice but know you have prayers going up for your family during this season of so much uncertainty.

smallanimal · October 2016

If you only did the US part, yes, the translucency seems high, but 3mm is high risk, not "super high, almost certain" risk... I must be honest, I have never heard of any test giving this kind of a strong positive chance, bar amnio. NT test normally gives high or low, with high being a 1% or so chance. Unless you did the blood test part too?

Remember, these are indicators (both blood test, as long as it is yours, and the NT scan) - the only thing that can tell you for sure is amnio. They even say on the website themselves that it is not a diagnostic. So whilst it is bad news, try to keep positive until you see the end result.

Have you decided what to do if it ends up being confirmed positive, or would you rather not think about it at this point?

Thinking of you. Whatever choice you end up making, WILL be the right one, just remember that!

catem07 · October 2016

@smallanimal she did the blood test, too. That's the materniT test.

schef070911 · October 2016

No advice either, just know that we're thinking of you and hope you can get as much information as you can. Please keep us posted.

Magheeta · October 2016

@ArchyFlores Sending you a huge hug today. This must be a scary time you guys are going through right now, and I hope you all can process it as best as possible.

My cousin is in his early 40's and lives with Downs. He has lived a really interesting life so far, so I'm happy to share his story with you for encouragement if you'd like.

SnarkasaurusRex · October 2016

I'm sorry that you're going through this. I would try not to get too far ahead of yourself until you have the amnio (I know, easier said than done). It is my understanding that the Maternit21 is NOT a diagnostic test and only indicates the possibility of some chromosomal abnormalities. I've never heard the 99.1% accuracy claim, not even when I had the test with DS. The amnio will be more enlightening. I hope you find that it was a false positive.

FWIW, I've worked with a lot of kiddos with Downs, and many of them have very full and rewarding lives. Plus, there are so many more opportunities for educational and physical therapies these days. The quality of life for individuals with Downs is really improving. The severity of issues they have ranges from individual to individual, so even if it is positive, try not to assume that your LO will be like your DH's cousin.

MrsBakes · October 2016

So sorry you are going through this! Well, I actually do know of one person who had received a false positive diagnosis. Close friends of H and I, who's daughter is 5 now was said to have down syndrome with 99% accuracy. She does NOT have down syndrome. She is high functioning autistic and was diagnosed about 2 years ago. Now I have no clue if that has anything to do with it of course. I'm just giving you all the details of this particular case. I hope all goes well. I'll be thinking of you!! Sending you lots of hugs!

Ekzerr · October 2016

No advice, but sending good vibes!!

peachy0709 · October 2016

I am so sorry you are dealing with the uncertainty and stress of this. We're here for you.

dlynn484 · October 2016

My cousin just had a perfectly healthy baby last month and many signs were pointing to a different outcome. I can't tell you for sure if they did the same test you did though. I do know they had a happy outcome.

Pinkpeonies · October 2016

I am so sorry you are going through this! Thinking of you and your family.

ashleym112 · October 2016

I'm sorry you're dealing with the stress and uncertainty with all of this. Thinking of you and your DH.

lovelongdog06 · October 2016

I'm so sorry you're having to face this. For what it's worth, I have an uncle with down's who has been quite functional all his life, and very sweet and creative. He's always lived with family but has never had issues with normal hygiene or self care.

MWoodside · October 2016

I'm sorry you are receiving a diagnosis that is causing you stress and worry. Sending huge hugs.

the range of functioning with DS is huge. One end of the spectrum of needs is your DH's cousin, while the other end of the spectrum is people who live independently, succeed in school, I even know a local physician with DS!

I've followed this blog for years and read her book Bloom. Maybe this blog can give you hope? Or provide resources? https://kellehampton.com/2010/01/nella-cordelia-birth-story.html

Sending love as you await your amnio, the final diagnosis and decide how to proceed. You are supported.

mylittleirvz · October 2016

I am sure this is a scary/anxious time for you and your family but know you have so much support here!

I have a brother that is 24 with DS and is very high functioning and the most outgoing, friendly guy you could ever meet. He seriously is a sweetheart that knows no stranger and makes everyone's life better by being in it!

My best friend also has an almost two year old with DS and she is doing so amazing. She is exceeding her milestones and going above and beyond what is "expected" of her at this age. Feel free to pm me if you have any questions for her or my mom (or me I guess ) about anything. My friend especially being more around our age and having a younger one with DS is an amazing resource (not saying my mom isn't but you know what I mean ). She has learned so much about it and really has a heart to help other moms walking a similar path.

Like @MWoodside said, the range of function is HUGE. Hugs to you!!

firewife86 · October 2016

My NT scan put me at high risk and the Quad Screen put me at 1/ 300 for DS. My OB is considering this a moderate risk, aND they don't recommend an amnio unless it's 1/275 ..
For my age group my risk should be 1/970.
Both of my other pregnancies I had scans and blood work, all which put me 1/1500 or better. I'm definitely nervous. we are going to see how the anatomy scan goes in 2 weeks and if there are soft markers we will discuss further diagnostics. right now im just trying to focus on having a healthy baby and a healthy ppregnany.
I'm sorry you are going through this as well.

smallanimal · October 2016

@firewife86 so sorry you have to go through all this uncertainty. But think of it this way, 1 in 300 means that in a room of 300 people with your exact same results 299 mums will walk away without a single problem. good luck and let us know what the next scan says.

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