Question from second tri to the new mamas :)

[mommyB]

First off congrats on the new babies!

We are expecting our third (our first girl!) and I just got a call the other day from my OB about the results from our 20 week scan. He started off by saying that she is perfectly healthy. But he noticed a red flag. And the red flag was a larger then normal nuchal fold at the back of the neck. He clearly stated that it doesn't mean she will have Down syndrome, but I need to see a genetics counsellor to discuss further testing if wanted. Now at the time I didn't even know what a nuchal fold was, never happened with my boys. And I didn't ask the measurement. But it was the only red flag. And I've spent hours googling and come across plenty other women with the same thing and their babies were fine. Obviously it very well could be an inaccurate read from the ultrasound maybe due to position and stuff. So I'm here wondering if anyone else had any of these "red flags" or "soft markers" show up after their scans (especially the nuchal fold one). And what was the outcome? I'm just so stressed out right now. Thank you.

 

[gigglebox]

I'm not a new mom, but I did do the whole NT scare thing with my son. In a nut shell...it was huge at his 12 week scan and they suspected a chromosomal abnormality. I did a CVS test, and it came back normal, and at that point they suspected heart issues. I saw a maternal fetal medicine specialist who said he may pass at 15 weeks. By 22 weeks he was fine and the NT was reading normal. Heart appeared normal.

Yadda yadda yadda, I gave birth to a normal, healthy little boy who is now 3 and sitting next to me eating grapes right now.

 

[mommyB]

Thank you so much! And I'm so glad everything turned out okay. I spoke again with my OB and he said the measurement was 6mm at 20 weeks which he said is the cutoff. He assured me that she more then likely doesn't have DS (obviously would still love her the same, that's why we skipped the genetic testing). It's just protocol to send me to a counsellor. All vital organs are healthy he said. So I'm feeling much more at ease. My appt. are early next week. Wish me luck!

 

[gigglebox]

Good luck to you! If the organs look fine, I wouldn't even worry. I think downs comes with other developmental issues. Also, doctors are required to tell you the worst case scenario, no matter how unlikely.

 

[kmumtobe]

Hi, my story is similar to gigglebox's, baby had an enlarged nuchal fold at our first scan we were given so many 'could be's' and a Down syndrome risk of 1/45 but they never found any other markers or issues in the scans, we turned down conclusive testing as here it carries a miscarriage risk and I had a perfectly healthy baby girl. Get the blood test done. I know what it's like to carry that worry in the back of your mind the whole time something may be wrong and it doesn't go away. Good luck!

 

[Cattia]

There is a Blood test you can have that is over 99% accurate for downs and carries no risk. If it were to come back positive you could then decide whether you wanted a more invasive procedure to confirm or if it's negative you know for almost certain your baby doesn't have DS. They test for some other genetic conditions at the same time. It's called Non Invasive pregnancy testing or NIPT and there are different versions of the test. I think the cut off is 22 weeks though.

 

[amelia26]

My baby had a larger nuchal fold measurement. I had the Harmony test - it's a non invasive blood test that is about 95% accurate. The results were less than 1 in 10,000 chance of Downs syndrome and trisomies 13 and 18.

We were sent for a cardiac scan at 20 weeks though as a high NT measurement can sometimes be an indicator of heart issues too.
We discovered our baby has two heart defects. It is anticipated she won't need treatment for these and will be able to live a normal life. We are having extra scans though and she will have further tests after birth.

We were offered an amnio but declined after getting such good results from the Harmony test.

 

[mommyB]

Thanks ladies. I will do the NIPT blood test on Monday. And I will have another ultrasound scheduled. He did say the measurement was literally right on the cutoff and it is just protocol to send me to a genetics counsellor. I'm not too worried. She doesn't have any other red flags. He said cardiac and all major organs were perfect. And my doctor said its highly unlikely she has it.

 

[gigglebox]

Any update on the bloods?

Amelia, my son had heart issues detected early (around 18-20 weeks) but they resolved on their own before he was born, which evidently happens a lot.

Hope all is just fine with you both

 

[mommyB]

I went to my OB appt. on Tuesday and he assured me that it's highly unlikely she has it. And said that radiologists drive them crazy because sometimes they find the smallest things that just make moms worry. But he said they have to cover their butts by telling us these things. Even the genetics counsellor strongly felt that everything would be fine. So my OB said to do the NIPT/panarama blood test just to assure me that I'm low risk. So I did it on Tuesday. Results in 10 days I believe. But I have another ultrasound next week as well. I'm not worried anymore

 

[gigglebox]

Yay! I hate how doctors have to tell you the worst case scenarios, even when it's not warrented. Keep us updated

 

[amelia26]

Glad things are looking good.

Gigglebox - it's nothing that can resolve per se - she is missing the inferior vena cava (major vein) and had two left atria instead of a left and a right one. So her heart is anatomically different. But she might just get by as she is without needing treatment. Fingers crossed.

I'm glad your baby's heart issues resolved. X

 

[mommyB]

Thanks ladies! I will definitely keep you updated once I get results or any info

Praying everything is okay with your baby girls heart amelia. xx

 

[mommyB]

Just a little update I went back for another ultrasound today because they couldn't see all the fingers on both hands last time. Well she has all 10 Anyways I had the same ultrasound tech and he called his "boss" in to help and apparently he didn't take a pic of the nuchal fold at the right angle last time. They both told me that everything looks good. What a relief! I'm still waiting for my bloods to come back but I'm positive that it will just say low risk. I'll let you know when I hear. Thanks again girls for everything!

 

[gigglebox]

Yay!!! This is great news! Hope everything goes smoothly from here on out.

 

[mommyB]

One more update, I got the results back from my panorama test....Low Risk!! Yay! I already know everything was okay but it's nice to hear it Thanks again ladies!

 

[amelia26]

That's wonderful news!

 

[gigglebox]

Yay!!! I am so happy for you