2nd Trimester
shainatay4
member
baby might have d/s
shainatay4
member
So i had a doctor appointment three days ago and she talked about different tests we could do. I thought might as well they are going to be drawing my blood anyways. So I get a call from my doctor yesterday afternoon telling me that the blood work from all your tests came back. I knew it was not good because if the doctor calls you, not a nurse or anyone the doctor you know it's super important. So first thing she told me was my thyroid dosage needs to be higher. I have thyroid issues so this is normal for it to change a lot during pregnancy. Then she says well i referred you to someone who can check the chromosomes of the baby. (i don't remember the exact name of the type of doctor who does it) For your age it was the very last number that it could be possible that it's possible to have D/S. She said that it's a 1 in 150 chance. I was trying not to cry on the phone. It was just heartbreaking to here that our child might be having problems. I felt like may be i should have done something differently. I know you have no control over your chromosomes and that it just happens sometimes. But i am scared. I am not sure how to handle it until we no for sure. She also said that the blood test could be a false negative and the baby might be fine but i had to call you and let you know it's a concern. Anyone else go through this?
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Re: baby might have d/s
I decline the blood tests because of that feeling. But even then during our routine u/s at 20 weeks we found that the nuchal translucency was a bit thick. Even that is just one out of many markers for DS and other things. We opted not to do the blood test because we didn't to know since it wouldn't change the outcome other than me worrying and stressing for the rest of my pregnancy. We did decide to see a pediatric cardiologist to have him check the baby's heart thoroughly since about 50% of DS babies have heart problems and if the baby did have a heart issue it would change where we delivered.
All I can say is, I'm sorry you're scared and worried, but for now I would try to relax and know that 1. it could all be a false negative and 2. DS babies still go on to lead full lives. Good luck with follow-up testing.
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This exactly. My best friend was told her baby had a 1 and 10 chance to have DS. He's a happy, healthy, 11 month old who does not have DS. I would inquire about the MaterniT21 blood test like the above poster mentioned. It's non invasive, and will put your mind at ease. Sending you positive vibes your way
I had a 1 in 25 chance that the baby had DS following my NT scan. I was completely shocked and I know, it is really hard to stay positive and avoid too much worrying. But I will be sending well wishes your way. I would bet that all is completely normal!!
The awesome doctor at the hospital where the scan was done suggested that I have the CVS (google it!) done and skip the blood test since they are often inaccurate anyways. Well I am so happy that I took his advice because although it was torture waiting for the results to come back (10 days!!) we found out that the chromosomes were completely normal. My OB suggested that I have the quad screen done just in case because it can suggest other issues so I did.
WELL...the screen cam back as possible Trisomy 18. However, because we did the CVS test we knew for sure that the baby had no chromosomal abnormalities. IF I would have only done the blood test that you had done and not the CVS I would have definitely terminated the pregnancy. I am not typically an advocate for invasive procedures during pregnancy (or ay other time) but in the case of soft markers I say take the chance with the most accurate. Screening tests are exactly that...SCREENING TESTS.
How many weeks are you? You may still barely qualify for the CVS. If not, do the amnio and put your mind at ease.
Well wishes to you honey!!!
Remember to smile!!
Not to question what your doctor said---but everything I have heard about the Materniti21 test is that it is something like 98.1% accurate in detecting all three trisomies.
My best friend got calls like that throughout her pregnancy last year- including a 1 in 15 chance for d/s. Her little lady is a happy, healthy perfect little girl.
We're meeting with a genetic counselor next week because we both tested positive for cystic fibrosis (different genes, but still a possibility). It's nerveracking, we'll get our odds, but we're staying positive and hoping for the best.
Doctors are really covering their bums these days I think, so if you can, take it one step at time and stay as positive as possible!
Hoping for the best for you as well!
Our lil' diva: late like her Momma: 40 weeks 5 days!
((hugs)) I can't imagine how nerve-wracking this is for you.
We have a bumpie (goldenleaves) on the February 2012 Moms board whose daughter has Down Syndrome. She's got an amazing story, and a beautiful, happy little girl. She keeps this blog, that I really think is worth the read, even if your baby is just fine.
Good luck, T&P coming your way!
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Your odds are still pretty good that your baby does not have d/s. We went through the same thing, except our odds were 1:25. We did a level 2 ultrasound at 16 weeks, and also an amnio (received preliminary results that everything looked normal). Hang in there!
~~~BFP 10/9/12, EDD 6/17/13~~~
I hope she was talking about the blood work with the NT screen, not the MaterniT21 ... Because if her doctor told her that, he's just plain wrong. I had the MaternitT21 done instead of the blood work with the BUN screen, because it is WAY more accurate, and I'm glad that's the route we chose to go.
And original poster, try not to be too worried. Most people that have this happen, baby is perfectly fine. Good luck!
We lost our first (EDD 07/23/12) after finding out at 12 weeks there was no longer a heartbeat. Our rainbow was born 05/22/13 and was worth all we went through.
“So can you understand? Why I want a daughter while I’m still young? I wanna hold her hand and show her some beauty before all this damage is done. But if it’s too much to ask, it’s too much to ask … Then send me a son.” – Arcade Fire
I really like this answer. This.
I am surprised you were told this. Yes, Sequenom (MaterniT21) errs on the side of false-positives, but the test is still 99% accurate.
Im sure you will see a perinatologist and a genetisist. They will go over your testing options with you. I had the Materni21 test done this time around and got my results in 7 or 8 days I think. They were negative for the trisomies tested.
I would advise you to check out the babycenter.com boards for Ds pregnancy and the amnio board. I believe they have a board just for the Materni21 test as well. There are several women there who are waiting it out or are awaiting their CVS, Amnio or Materni21 results on the pregnancy board.
I have a daughter that has Down syndrome and she is healthy and happy! I know you are worried, I was in your shoes a few years ago after I got that call. Please be kind to yourself and research all you can about what life is REALLY like for a child/adult with Ds. There is a lot of out of date information out there. Please come join us over on babycenter.com if you are up to it too. Good luck!
I will give you the very unpopular advice of get all the testing YOU feel is needed and use that information to make the decisions about your pregnancy that you feel are the right ones regardless of what anyone else's experience has been.
Just ask yourself what you would do if your baby was already here and a doctor said something might be wrong. Would you choose to not have some testing done to check for certain things or would you do whatever was needed to be prepared to give your child the best care possible?
Whatever you choose to do it is the right thing for you and your child.
Yes, ladies...it was the initial blood work done with the NT scan. I was not offered any other options. So, I went with the CVS test. VERY happy I did not just do the blood work.