1/59 chance of down's syndrome

[Bcinla]

Thanks to everyone who has responded. This has been a very tough pregnancy, well tough year. We had four miscarriages this year, were told by first RE we consulted with that we probably would never have another biological child. We decided to do IVF with another RE who had more faith. We spent most of our savings to do it. We lucked out and got pregnant with twins. I have had cramping for 12 weeks and feared miscarriage every day. It finally subsided. Also had spotting along the way and was diagnosed with gestational diabetes in first few weeks and I am now insulin dependent. I am very sick and the few things I can possibly fathom eating right now are all the things I need to avoid..bread, pasta, cereal. This pregnancy has been one worry after another. Every day has been difficult. So getting the 1/59 result was yet another thing to worry about. I don't think I have any energy left to worry. We all want healthy babies, of course. If we have a downs syndrome baby that will be a challenge. But we wanted these babies so desperately and we will love them no matter what. I just want to know that everything is ok. I just want to start enjoying this pregnancy and stop having to worry. I appreciate all the support for the moms on here. Thank you!!

 

[sjwebb]

This is off the american pregnancy site. You and your babies are going to be fine. And if by chance they are special needs, then that means they just get more love and care.

What do the First Trimester Screen results mean?

It is important to remember that the First Trimester Screen is a screening test and not a diagnostic test. This test only notes that a mother is at risk of carrying a baby with a genetic disorder. Many women who experience an abnormal test discover later that the test proved false.

 

[Glitter_berry]

Thanks to everyone who has responded. This has been a very tough pregnancy, well tough year. We had four miscarriages this year, were told by first RE we consulted with that we probably would never have another biological child. We decided to do IVF with another RE who had more faith. We spent most of our savings to do it. We lucked out and got pregnant with twins. I have had cramping for 12 weeks and feared miscarriage every day. It finally subsided. Also had spotting along the way and was diagnosed with gestational diabetes in first few weeks and I am now insulin dependent. I am very sick and the few things I can possibly fathom eating right now are all the things I need to avoid..bread, pasta, cereal. This pregnancy has been one worry after another. Every day has been difficult. So getting the 1/59 result was yet another thing to worry about. I don't think I have any energy left to worry. We all want healthy babies, of course. If we have a downs syndrome baby that will be a challenge. But we wanted these babies so desperately and we will love them no matter what. I just want to know that everything is ok. I just want to start enjoying this pregnancy and stop having to worry. I appreciate all the support for the moms on here. Thank you!!

 

[Ofireland]

Have them do the Maternit21 or Harmony blood test. They just take some of your blood, sift through it for fetal blood, and can tell you a definitive answer. 13 weeks is not too early. I just had mine done and I'm 15 weeks.

 

[JessPape]

Have them do the Maternit21 or Harmony blood test. They just take some of your blood, sift through it for fetal blood, and can tell you a definitive answer. 13 weeks is not too early. I just had mine done and I'm 15 weeks.

Even theses test are not 100% and still can not say a yes or no, to what your child may have or may not have.

 

[Sunnie1984]

Hugs.

No positive story here as I'm still waiting for my maternit21 results after my second blood draw.

I'm 1:43 risk for trisomy 13. Unfortunately mine has nothing to do with age as I'm 29, and all to do with baby having raised heartrate.

I'll keep my fingers crossed we both get good results back soon.

 

[geordie_gal]

Good luck all those waiting on test results.
My blood test came back as 1:50000 at first but after baby being diagnosed with echogenic bowel the odds have changed to downs 1:500 and CF 1:29 it is indeed worrying times. x

 

[brownlieB]

I can't remember what my friends chances were exactly by I know they were higher than normal. She was also classed as an older pregnancy at 35, and carrying twins. Both her babies are perfectly healthy and thriving at 1yr old xx

 

[want2bemommy]

Yes, it tends to give lower odds with twins- I got a normal nt scan but higher risk of DS- my dr was not concerned.

As for the couple of people instantly judging her- think before you speak. This is supposed to be a safe haven to share our concerns. Concern of DS is different from believing it to be a horror story. I've know DS adults living great lives. My concern, as I think is close to other mothers, is wanting your child to have the least amount of struggle possible. Different diseases, disabilities or chromosomal difference can cause challenges that no one wants their precious babies to face. It DOES NOT mean they will love them any less.

 

[Bcinla]

Hugs.

No positive story here as I'm still waiting for my maternit21 results after my second blood draw.

I'm 1:43 risk for trisomy 13. Unfortunately mine has nothing to do with age as I'm 29, and all to do with baby having raised heartrate.

I'll keep my fingers crossed we both get good results back soon.

Yes, the wait is excruciating!!! I did the harmony a few weeks ago and it came back saying they needed a redraw. So we are in the same boat! I am now waiting again. today is day 10 so I am hoping for an early result but with my luck I wont hear until tuesday. When do you expect results?

 

[Bcinla]

Good luck all those waiting on test results.
My blood test came back as 1:50000 at first but after baby being diagnosed with echogenic bowel the odds have changed to downs 1:500 and CF 1:29 it is indeed worrying times. x

Sending you some good luck that all is ok.

 

[Sunnie1984]

Bcinla - sorry you are in the same boat.

No idea on mine. Lab still hadn't received my sample on Thursday, so can't even begin the countdown until it arrives.

The lab said 10 days from when they receive the blood as it's a redraw but who knows.

I'm almost certain I'll still get no result and have to proceed to an amnio x

 

[Bcinla]

Uggggg!!! We were just told that we will have to wait another week for our harmony test results. That will be a total of 5 weeks!!!!! Why is this happening!!??? I am so tortured by this, it seems cruel to have such a delay in such an important result!

 

[Sunnie1984]

Why 5 weeks?! That's forever!

So sorry you are in that situation. My test is with Natera, so I'm hoping they don't have the same backlog.

X

 

[WantsALittle1]

Bcinla, so sorry to hear about that. We had problems with our MaterniT21 result. It was supposed to be back in 7-10 business days and it dragged on two weeks past that (a total of almost 4 weeks wait). 5 weeks is an eternity to wait!

The explanation that we got is that they draw twice the amount needed in case the first time testing doesn't bring up any free fetal DNA. In our case, though we weren't given an official explanation, the company running the test (Sequenom) guessed that the first vial didn't bring up any DNA or that the DNA was inconclusive and so they had to run the second vial, which means that the 7-10 days started all over again. Then they faxed 'results' to my OB (ended up being a blank fax) and wouldn't release the results over the phone. It took days of my OB's office calling and re-calling, ugh.

Finally, FINALLY got the results back and things were normal, so please know that delayed test results doesn't necessarily mean that anything is wrong. It can just mean that they are having trouble getting the DNA from your blood or that someone doesn't know how to operate a fax machine

xoxo

 

[Bcinla]

Thank you Wantsalittle1, I found out today that we should have results by friday or monday. Of course with my luck it will probably be monday! The doctors office did confirm that they needed to redo everything with the second vial. I am glad to find that out because we just assumed it meant something was wrong. So glad to hear you had good results! Did you do a first trimester screening and NT also?

 

[Mommy2be20]

Hopefully you get them Friday, good luck

 

[WantsALittle1]

Bcinla, yes we did the first tri screening and were assessed a 1/210 risk factor based on a thick fold, low PAPP-a and high hCG. That's what led us to do the MaterniT21. I'm so sorry the second-vial thing happened to you too! Grr!

I assumed it was relatively easy to find fetal DNA in the blood but apparently not!

 

[steph.]

I got odds of 1:20 and I am 'only' 27 years old. Like you, ultrasound was fine but my blood tests were off (really high hcg, low papp-a) which gave me such high odds. I am happy to say after all that, our baby girl does not have down's!

I know how hard the waiting is, how you think you are fine one minute and sobbing the next. Your age played a huge factor in your odds, as did the fact that you are having twins. I am sure you will get good news soon.

 

[Bcinla]

Well, FINALLY got the harmony results and it is good news...we went from having a 1/59 chance of downs to a 1/10,000 chance! Both babies appear to be healthy. The relief is immense!!!!!!! We also scheduled a private gender scan this AM because we needed something to focus on that was positive and found out we are having two more girls! Now we can start stressing about how we are going to pay for three weddings.

Thank you to everyone who responded with supportive words. This forum has been so helpful during this difficult time.