High risk for Downs

[Juice]

Our screening result came back as 1:16 for Down's after the NT measurement was 6.3mm. There was no way we could afford the Harmony test so our options were either do nothing or have a cvs or amnio. The cvs was slightly more risky so we waited until 15 weeks for the amnio. Our results came back that our little girl has Turner's Syndrome. It's odd that the hormones they look at in the bloods were consistent with Down's but we actually have a different chromosome disorder. I was shocked because I'd really prepared myself for Down's but we were relieved at the same time because we were hoping for Down's or Turner's or something that was similarly not as devastating as say Edwards or Patau's.

Now we're just waiting for next week when we have an anomaly scan to see if/what is structurally wrong. It's scary! :/

 

[ab11]

My baby is perfect, simple as, I'm not interested in if it offended you or not because I wasn't talking about your baby compared to mine.

o my god what a horrible woman you are

 

[ab11]

Our screening result came back as 1:16 for Down's after the NT measurement was 6.3mm. There was no way we could afford the Harmony test so our options were either do nothing or have a cvs or amnio. The cvs was slightly more risky so we waited until 15 weeks for the amnio. Our results came back that our little girl has Turner's Syndrome. It's odd that the hormones they look at in the bloods were consistent with Down's but we actually have a different chromosome disorder. I was shocked because I'd really prepared myself for Down's but we were relieved at the same time because we were hoping for Down's or Turner's or something that was similarly not as devastating as say Edwards or Patau's.

Now we're just waiting for next week when we have an anomaly scan to see if/what is structurally wrong. It's scary! :/

if you ever need someone to talk you, message me your not alone.
it's very scary but you know what your stronger than what you know xx

 

[lisey]

I hope your results come through quickly timtam xx
Ab11, your baby is perfect, a disability or difference of any kind does not define a person. He is yours, he is loved and he is a blessing. I don't like the references to 'perfection' either when it comes to these things. My son has a severe disability (autism). He is no less than anyone else xx

 

[KateK]

I get where you're coming from too Ab with the 'perfect' comments.. Put it into context Pumpkin, we're on a thread talking about whether or not babies have chromosomal abnormalities, when it turns out yours didn't, you described him as perfect. I am also against hyper political correctness but on this occasion you could have been more tactful and I think you owe her an apology, or at least an acknowledgement!

 

[ab11]

Thank you so much you 2 iv not stopped crying about it this morning, hubby as gone work thinking it's something he's done. Going to get us both dressed and go off for a walk n show him off. Get us both some fresh air xx

 

[ab11]

I hope your results come through quickly timtam xx
Ab11, your baby is perfect, a disability or difference of any kind does not define a person. He is yours, he is loved and he is a blessing. I don't like the references to 'perfection' either when it comes to these things. My son has a severe disability (autism). He is no less than anyone else xx

Lisey I remember you from lttc,hope your well and your little is thriving.
Looks like a congratulations is order xx

 

[lisey]

Thanks. So far, so good xx
I hope you're OK xx

 

[Blueclass]

Ab dont let other peoples comments make you upset. You have your perfect baby and as you say whether he has downs or not that will not define him or make him. I work in a school for kids with additional needs and all of the kids are lovely. I think pumpkin could have worded her post differently and see why it could have upset you. Yes kids with additional needs may need more support but so do kids in mainstream.
Call your hubby and tell him what upset you then take your little boy out and show him of to the world. Xx

 

[Tonks82]

Awww Abs I think your baby is as beautiful and perfect as any other.

Timtam have you had your 20 week scan yet?? My risk was low but was a lot higher than my sons risk and the nt measurement was 2.7. I went into my 20 week scan and told the sonographer I was worried sick about my risk and she was lovely and pointed out soft markers they look for and baby didn't show any signs of chromosome issues. Obv she pointed out it's still not a definitive answer and my risk factor still stays the same.

I thought about harmony but like others said what would I have done if I had a high risk factor?? I wouldn't have had amnio and I wouldn't of aborted so therefore there is no point paying that money really.

Once you've got over the shock you can think what's right for you Hun. There's lots of people and support on here though if you need it.

Xxx

 

[timtam78]

Abi, I hope you are ok hun. I'll admit I didn't read Pumpkins post that way but I can totally understand how it could have got to you. Just like not a single person in this world is perfect they are all perfect in their own ways to the people that love them. Big hugs to you xxx

Hi Tonks, nope I'm only 15 weeks along so not had my detailed scan which I'm also dreading now.. The Harmony test pretty much gives you a 99.9% answer so even though the results are delivered as a risk factor (it seems is either a 1:10000 or less as opposed to an almost certainty of abnormality) it's pretty much a yes or no really so to me it's well worth the money for the peace of mind so I dont go through the next 6 months wondering. I'm very worried now as I don't think my husband is on the same page as me should we get the result were not hoping for.

 

[timtam78]

Our screening result came back as 1:16 for Down's after the NT measurement was 6.3mm. There was no way we could afford the Harmony test so our options were either do nothing or have a cvs or amnio. The cvs was slightly more risky so we waited until 15 weeks for the amnio. Our results came back that our little girl has Turner's Syndrome. It's odd that the hormones they look at in the bloods were consistent with Down's but we actually have a different chromosome disorder. I was shocked because I'd really prepared myself for Down's but we were relieved at the same time because we were hoping for Down's or Turner's or something that was similarly not as devastating as say Edwards or Patau's.

Now we're just waiting for next week when we have an anomaly scan to see if/what is structurally wrong. It's scary! :/

Oh Juice I'm sorry to hear you went through this But happy for you that it didn't turn out to be one of the two worst scenarios. Are you getting a lot of support now what to expect with the Turners syndrome? x

 

[timtam78]

Oh Ab I don't know whether you know but there is a program on tele on Wednesday about Down's ... (coincidently the day I'm meant to have my results back on)...

http://www.bbc.co.uk/news/magazine-37500189

 

[BunnyN]

DS had a large NT measurement. We didn't bother with the combined testing because it was going to be high risk due to the NT and my age. The NT on its own had something like a 1:8 risk. We decided to have the harmony test which came back low risk and DS was born healthy. As others have said I believe with the harmony test a negative result is 99.9% accurate. Which is good enough for me . They say an amnio is the only way to be 100% sure but if you want to pick holes I am sure that amnio results have occasionally been wrong due to lab error or human error, if nothing else. I think a postive result with the harmony test is a bit more likely to be wrong than a negative though. So there is some allarm that people might act on its results. It is possible for harmony to give a false positive when there was a twin that didn't survive or when a small area of the placenta mutates but the baby is not effected.

Obviously its a personal decision but I couldn't get over the risk factor of the amnio. I kind of feel like doctors push the risks under the carpet but they do exist. I was talking to my MW the other day and she knew mothers personally who had lost their baby after an amnio so it does happen. I don't mean it as a dig at anyone who decides its the right choice for them. There are lots of factors involved but I think sometimes doctors are rather pushy about it and not forthcoming about the risks.

 

[CharlieSmartie]

We have had harmony tests during two pregnancies.

Last year we had a 1:5 score on NHS screening (nt 2.7) during a pregnancy. Harmony confirmed 99% of chance of abnormality. Confirmed via an amnio at 15 weeks then.

This pregnancy we decided to do an early harmony test and it confirmed 1:100000 low risk of abnormalities. In our case we absolutely wanted to test and for peace of mind

 

[timtam78]

I had my results back, it's pretty much a certainty my baby has Down's. I won't lie I am devasted. Can anyone point me in the direction of good support forums for this? I guess you will know about this Ab?

 

[Smileygirl]

I had my results back, it's pretty much a certainty my baby has Down's. I won't lie I am devasted. Can anyone point me in the direction of good support forums for this? I guess you will know about this Ab?

Sending hugs xxx

 

[Bellarina]

Hun I am so sorry. Like i said earlier you know where I am. Sending love xx

 

[T84]

I'm so sorry to read this Tammy, I can't even imagine what your going through. It's going yeah be a tough ride but you''ll get through it with your gorgeous perfect baby. I know there was a lady with a downs son when we were having Scarlett and max, I follow her on FB and sure she has a parenting journal on here, I'll see if I can find her for you x

 

[mummywanabe]

My friends little girl was born with Down's syndrome, he wouldn't have her any other way! I will ask him what support groups etc they use xo