1 in 2 Chance of Down Syndrome

[Lea687]

Hi, I had my 12 week scan on Thursday and was told the NT was 4.3mm - I've had my combined test blood results back today & it's come back 50/50 - 1 in 2 for DS & 1 in 380 for ES & PS.

I'm 24 years old and this is my first baby, everything is so new to me and this has given me a completely new story to go through. Never in a million years did I expect my first pregnancy to go like this, I feel so guilty feeling the way I do.

I'm posting this to ask for support advice 9; help. This is a hard time for me and my boyfriend & something we never anticipated.

I apologise massively if I sound disrespectful or ungrateful but I'm finding it so hard to put into words what I am thinking and how I am feeling.

So sorry to hear your news OP.

I have been through similar a few years ago and found the organisation "Antenatal Results and Choices" really useful, they have a website and a brilliant helpline:

 <a class="break-all" href="https://www.arc-uk.org" rel="nofollow" target="_blank">https://www.arc-uk.org/</a>

I had two pregnancies with T21 and I chose to terminate both times but have subsequently gone on to have more children.

I have a friend who has three daughters, two of whom have Downs syndrome, beautiful girls and a very happy family.

I remember the feelings well, it is your worst nightmare getting a bad result at your scan and suddenly you have so much thinking and heart searching to do.

First you need to get confirmation of exactly what your situation is, and then only you will know what the right choice is for you.

Please do keep posting and we are all here to talk and to listen and most importantly not to judge x

Hi OP, I've been there and you have all my love and sympathy. It's very scary and I felt like all my pregnancy joy was punched out of me in a matter of seconds when my results came back.

I had the harmony test but then decided for my own sake I needed a definitive diagnosis (despite it being so accurate) so opted for an amniocentesis. I was also offered a CVS but my placenta wasnt accessible so had to wait another couple of weeks. There is a miscarriage risk, but it's really small - less than 1%. Also a doctor friend advised that data on miscarriage after an ac goes back quite a few years and techniques/tools are much better now so risks are probably even smaller. Sadly they also don't know whether, if a miscarriage happened after an ac or cvs, if it would have happened anyway for different reasons.

I also ended up having an ac with my second too. Both times were fine, just a bit of cramping for a few days afterwards. Results came very quickly too.

Whatever the outcome and whatever you decide, I'm sending you all my best. You're not alone ❤

Op, I have been through similar and my son was diagnosed as having T21.

Step 1, I'd recommend speaking to Antenatal Results and Choices (ARC) who can provide support and help you understand screening and diagnostic testing and potential next steps. They are brilliant.

No doubt you will be getting support from a midwife now to guide you towards further screening (NIPT) or diagnostic testing (CVS or amniocentesis). You may decide to have no further screening or testing.

If you do find your child has T21, the fetal medicine team were very helpful to me explaining what it could mean in terms of prognosis and his outlook for life. I also spoke twice with the Downs Syndrome Association who were very helpful. I spent time understanding perspectives from some parents on this site and also read some books (For the Love of Oscar and Don't be Sorry).

All things considered we concluded that, very sadly, the right decision for us and our son was to TFMR. ARC have also been a great support of support since then.

Please don't feel pressure from anyone to feel a certain way, or to take any particular course of action - especially people who have not been in this position.

Please reach out if you want to chat.

I would do the nipt

I'd terminate I have baby with down syndrome health problems have been hard to watch. I wouldn't have chosen to do this to her or myself

Please don't feel any shame if you do decide to terminate, if of course, the news isn't as you hope.

Completely agree. If you need to make this choice, do what's right for you, and your family. There is lots of support out there to help you to have accurate information to make a decision - ARC, the Down's Syndrome Association. Sending you love and strength to get through this difficult time

Completely agree

I was trying to write something similar the other night but couldn't find the right way to word it. (I was up in the night with a daft cold).