MaterniT21 test anyone?

KarliQ88 · August 2016

We just had our 20 week ultrasound. Found out we were having a baby boy!!! We are so excited. Baby is measuring spot on. Things looked good and doctor said they would take a more in depth look and call me if they noticed anything. I get a call yesterday that they found whats called an intracardiac echogenic focus(IEF) on my baby's heart. Basically she described it as a normal variance in pregnancy. They see it quite frequently and not to worry as it does not affect heart function and usually resolves by third trimester. However; it is a "soft marker" for down syndrome. Meaning there has been some studies that have shown a correlation beween IEF and DNA screening is usually offered. I did not have any testing done in first trimester because i figured i am low risk...I'm a healthy 28 year old and my husband is 28. We opted to go ahead with DNA testing. I am meeting with a geneticist tomorrow and as of right now we are looking at doing materniT21. He does not suggest amnio at this point because my risk of having a miscarriage from the amnio is greater than my baby having down syndrome or any other chromosomal disorser. So i got very reassured that chances are everything is ok. There are no other markers that point to anything and usually in the case of an isolated intracardiac echogenic focus things turn out normal. It's still incredibly scary. Has anyone else been through this? Had been told their baby has this?? Also the materniT21 test...i am having trouble figuring out does it tell you if your baby has downs or just your chances it does?

litzi-2 · August 2016

I'm sorry you're going through this! Your risk based on the ultrasound is still very low. the fetal DNA tests will only tell you "low risk" as its a screening test as well. amnio is a definitive test, but most do not need it based on the other results. try to not worry and wait until the other screens return (although i worry about everything myself...)!

KarliQ88 · August 2016

Thanks. It's really hard not to worry...but I'm trying. I keep having to remind myself that i am young...i was 27 when i got pregnant. I am healthy and there are no other markers seen. Other than this one which she called a "soft marker" meaning this is more than likely nothing especially since there are no other markers seen. I guess they can see alot on ultrasound and diagnose the majoirty of DS babys on ultrasound just by certain makers.

katesmama0706 · August 2016

With DD I had exactly 1 soft marker, but my quad screen showed a less than 1 in 10,000 risk so we didn't do any further testing. She doesn't have down syndrome. But that doesn't mean I didn't spend the last few weeks of my pregnant wigging the hell out because I didn't feel prepared if she did have it. It's hard when it's your baby and you're dealing with unknowns!

KRB22 · August 2016

@KarliQ88 congrats on your baby boy! I'm sorry you are going through this! I agree that the uncertainty can be quite stressful.

I had the first trimester combined screening (NT scan + HCG/PAPP-A bloodwork), and was told I had an increased risk of DS due to elevated HCG. There were no soft markers on any ultrasounds. I ended up doing the Maternit21 test as well, and everything came back low risk. The test is a screen, and is not diagnostic like an amnio or CVS, but is supposed to be very accurate. The genetic counselor we met with told us that it is particularly reliable with a "negative" result for DS. On the other hand, if it did come back that your risk is elevated, i.e., a positive screen, you'd probably be encouraged to do an amnio (if you wanted to know for sure).

It's a simple blood draw and they said we'd have the results within 2 weeks, but we actually heard back exactly a week later. I think it takes the lab about 5 days to process the blood once it's received, and I figured out that you can actually call the lab and find out when they got your sample, which helps if you're anxious to know when you'll get results.

colleenkevin · August 2016

@KarliQ88 We did MaterniT21 with this pregnancy. My understanding of how it works is this: something like 3-5% of your blood is actually made up of the baby's blood right now, so they take blood from you and screen to see how many times certain chromosomes show up (T21 - down syndrome, T18, T13). If all chromosomes are present in a normal range of what is expected, then they assume the baby is not producing any extra chromosomes and give you a low risk response. If a chromosome is present in higher quantity than expected, then because you don't have Down Sydrome (or Trisomy 18 or 13) they assume the baby is producing extra chromosomes and give you a high risk response. There is still a margin of error because they're looking at an unknown percentage of the baby's blood mixed with your blood, so it's not considered diagnostic like an amnio/CVS. Like you said, though, there's no risk of miscarriage when you're simply giving blood. I think it's a fantastic option - I'm so glad it's available to us today.

I'm sorry you're dealing with this - I hope your test results come back quickly! Mine was done 8 weeks ago, so don't take this an indication of how quickly they're processing right now, but I had blood drawn on a Tuesday morning and results the following week on Thursday, so 7 business days.

KarliQ88 · August 2016

Well i got a surprising call. The geneticist we are meeting with called me directly and asked me if i could meet today. He assured me it wasn't for any reason he was worried about he just had a cancelation for today and saw i was in the same time slot as the next day. So...we are meeting with him today. He said we will discuss your findings,answer any questions and go ahead with a blood test.

LoneStar21416 · August 2016

I do not have any personal experience with IEFs, but have two friends that were told the same thing at their anatomy scans. One had a slightly elevated risk for DS via a quad screen and one was told she was low risk (not sure what screening test she had). Neither baby wound up having DS. I agree that the MaterniT21 test is a great option at this point. The odds are in your favor. Keep us posted!

LoveIsOwlYouNeed · August 2016

I had the Panorama which is another test like the MaterniT21. It does not tell you definitively yes or no, it tells you the chances, however at 99 percent accuracy you'll get a really good idea. It might be something like less than 1 in 10,000 which means pretty much no, they're just not going to say definitely not when they can't. On the other hand, the number could go up, as in it's more likely, in which case, they might recommend an amnio.

All that said, I wouldn't worry and hope you get some answers soon!

KarliQ88 · August 2016

Well i feel tons better talking with geneticist. He said the odds were about 1/1000 for a DS baby and now its about 1/700. We did a serum DNA test which he told me will tell us with 99.9% accuracy if our baby has DS. Gave me peace of mind. Also he showed us our scans. Everything else on baby is normal. Normal nuchal fold, limb length, nasal bone, brain. Baby only has one spot on his heart. He said multiple spots are greater risk but still very low. So...now comes the fun part of waiting 6-10 days!

litzi-2 · August 2016

Thats great you got to meet early! They can be so busy.
The waiting for results is no fun. I just refused to let myself think about the harmony test while it was cooking! It sort of worked.
Good luck, everything will turn out fine

KarliQ88 · August 2016

Thanks everyoone. I'm feeling better about it all but still not 100%. The geneticist i met with was amazing and so helpful. He really put my mind at ease. He pulled up the ultrasound and showed me what they were looking at and proceeded to show me the normal findings that point to "more than likely everything is ok." he gave me his direct number to call if i have more questions. Also said if after 6 days I'm getting anxious to call him and he qill call the company himself and try to get them to speed it up. I will for sure be posting back with an update

spano41 · August 2016

My daughter had an echogenic focus on her heart at her 20 week scan. We had an echocardiogram done when she was a few days old and everything was fine. I know that's not what you're most worried about, but I wanted to reiterate that it doesn't mean anything bad for baby's heart.

KarliQ88 · August 2016

spano41 said:

My daughter had an echogenic focus on her heart at her 20 week scan. We had an echocardiogram done when she was a few days old and everything was fine. I know that's not what you're most worried about, but I wanted to reiterate that it doesn't mean anything bad for baby's heart.

Thank you! I'm so happy to hear your little one is ok and healthy. Any news that has even a small chance of a negative outcome is frightening. So we are hopeful but will get some answers hopefully mid next week.

karitubbs · August 2016

I would have thought that post was written by me (except I was 27, and found out I was having a girl) so I can relate to how you're feeling. After going through a roller coaster of emotions, we did not opt for genetic testing, we did however visit a specialist who offered us an additional ultra sound for review. We were assured that our baby likely did not have DS, and that sometimes calcium deposits show up looking like IEF's. Turns our the specialist was right, my daughter was not born with DS. Just hoping to give some additional reassurance.

KarliQ88 · August 2016

karitubbs said:

I would have thought that post was written by me (except I was 27, and found out I was having a girl) so I can relate to how you're feeling. After going through a roller coaster of emotions, we did not opt for genetic testing, we did however visit a specialist who offered us an additional ultra sound for review. We were assured that our baby likely did not have DS, and that sometimes calcium deposits show up looking like IEF's. Turns our the specialist was right, my daughter was not born with DS. Just hoping to give some additional reassurance.

Thank you!! I'm 28 (27 when i got pregnant) so chances of DS are low. I love hearing from people have been through this ( although don't wish it on anyone). We didn't do materniT21 like thought. We did serum DNA. I'm really hoping to get them back soon. It's reassuring to know that most of the people that through this, everything turns out fine. I do have good feelings our little boy will be just fine :-)

KarliQ88 · August 2016

Well...as i promised...I'd post back with results of test. Like i said we did not do materniT21. The gentecist ordered a serum DNA. Basically just took blood from meand were able to test babies DNA from that. It came back negative for any of the trisomy. No down syndrome...nothing. It confirmed we have a healthy baby boy. Over the moon thrilled and can have some relief.

colleenkevin · August 2016

Congrats

I'm glad your test case back low risk! Thank you for updating!!

ceclarlinetlo · August 2016

@KarliQ88 wonderful news! Thanks for the update!

KRB22 · August 2016

Great news! I'm glad you got reassuring results!

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