Possible Down Syndrome or Turner Syndrome

aliciaibelieber

I went to the doctor for my 5 month check up and they did an ultrasound. They said that my baby had a little extra skin in the back of her head/neck. They said I shouldn't be worried because they already tested my baby for Down syndrome. They said it could either be Down syndrome or Turner syndrome.. Anyone have this problem?

aah1013

Did they discuss further testing? Amnio? I'm not sure if the cell free DNA testing has a cut off as far as how far a long you are? Did you have an NT scan at 12 weeks? Are they doing a follow up scan to double check things? How far off were the measurements from "normal"? Sorry for all the questions.

Sorry you're having to deal with this. Hopefully it's just a mismeasurememt or a whole lot of nothing. It's not fun to have to stew over these types of things.

We had a higher than normal NT scan at 12 weeks. Our cell free DNA test says all should be fine. The wait for the results was very stressful.

Good luck to you and baby! Hoping you get some peace of mind soon.

LiveNLove44

aliciaibelieber said:

I went to the doctor for my 5 month check up and they did an ultrasound. They said that my baby had a little extra skin in the back of her head/neck. They said I shouldn't be worried because they already tested my baby for Down syndrome. They said it could either be Down syndrome or Turner syndrome.. Anyone have this problem?

Can you clarify the bold part and how it relates to the sentence right after it? I am a just confused. Thank you!

AshleyKimel

I had a high NT scan at 11 weeks followed by a CVS that came out clear. I went for my 20 week fetal Echo and then they gave me an amino to test more. I have to wait another 10 days for my results. I know exactly how you are feeling it's so stressful. Did you get an amino to find out what is causing the thick fluid behind the neck?

aliciaibelieber

I was 21 weeks when they told me and they told blood for a test but I'm not sure what it was called. And they also took my blood before and they said everything was normal (no signs of Down syndrome). They said it was supposed to be 5.5-6.0 and mine was at a 6.5, I'm not sure about anything else

knottymomma

Have they sent you to a specialist for a higher level ultrasound? The specialist would be able to Discuss possible genetic testing in greater detail if they see a need for testing.

Just a heads up, quad screens can give false positives. They told me my DD was positive for Down Syndrome and I needed to plan accordingly but when we went to the specialist they said that she didn't have it and more than likely they put in wrong information to give false positives.

aliciaibelieber

Yes they did send to to the specialist and that's when they did an ultrasound & told me the possibilities (down syndrome or Turner syndrome) they took my blood for another test & if that came back with anything thing wrong they could stick a needle and get fluid from the baby & I don't wanna do that. I go back on August 11.

kathyxoxo

everything will turn out fine , try not to stress .

AshleyKimel

Stay positive your doctors have a plan in place. Positivity will get you through this!

knottymomma

I'm sure that if there is anything that comes up in the blood tests they will not make you wait till August to go back in. Take a deep breath and relax a little. I know it's hard but there is really nothing you can do right now.

amz1986

I went through this myself. At my 17.5 week anatomy scan they told me the baby had a short nasal bone with was indicative of DS. They put me through alot of stress. I went and seen a prenatal genetics counscelor and completed a Harmony Test. Almost a month later we got good results and it was low risk. My point of telling you this is to remenber not always what they see on ultrasound means bad. Technically if u look up any reputiable website they cant make disagnosis or shouldnt cause concern by measuring the NT fold after 14 weeks. Please keep your head up. I have been there I get it. Relax and take care of your baby. It could simply be nothing.

przemosbabe

I have read from women who's babies had down syndrome and their measurements were a lot higher than 6.5! I'll bet you're fine.