High risk Down syndrome and feeling helpless

[DreamyRoseBeaker]

I’ve just had my 12 week scan and everything from a physical point of view came back fine and “normal”. But due to my age of 39 combined with a high hcg reading of just over 3, I’ve been categorised as high risk of 1:100. I’ve combed endlessly on here for similar experiences which I have found but can’t help the need to get real time feed back or reassurance from recent experiences. I feel very alone and scared.

I was advised immediately to have the invasive test with the needle all whilst we were stood up about to exit. This gave us confusing feedback because I know this is a serious test with risks so I was surprised for how it was the first line of suggested testing and right as we were leaving. It was matter of fact but also a bit non chalant so it was very odd. The blood tests came back just as we’d finished the scan so maybe this was why it was all a bit weird and felt rushed. I was then told about the Harmony test but whilst 99.9% accurate, it isn’t diagnostic. It was clear the person doing the scan favoured the needle option and said it was the better option.

I asked if my partner and I could take a second to discuss this. We decided to go for the noninvasive option which we were told takes two weeks to get results. The person doing the scan said try not to worry, but I was thinking you just told me I’m high risk for Down’s syndrome and you wanted me to go straight for the amnio!?

This baby is surprise number 3 and we’ve only just got our heads around having them in our lives only to have this spin us around. I know it’s still good odds in a lot of ways but I can’t stop crying and worrying.

I guess I’d just like to hear from anyone with similar experiences and to know if it took a long time to get the results from the harmony test. Anyone who can give any pearls of wisdom I’d appreciate it.

@powershowerforanhour (I assume you're northern Irish with that username?!)

I'm also northern Irish, living in London. I was initially shocked by your experience but then realised that until recently, indeed TFMR would have been much more limited as an option in NI.

I'm sorry you had to go through that and well done for taking control.

@DreamyRoseBeaker your situation js almost a mirror image of mine! Same odds on the NIPT too.

"I'm sorry you had to go through that and well done for taking control."

It was fine, just a bit stressful trying to arrange in a short timeframe- I had learned a lot of stuff mumsnet and from the NHS website and assumed the same testing would be offered here.
What annoyed me was the "computer says no " attitude, a mild air of judgement (maybe I'm imagining that but midwife seemed surprised and a bit pissed off to be asked) and absolutely zero signposting- no discussion about Harmony and how I'd have to go private and pay for that; or the accuracy of Harmony over hcg; or even a further discussion about my expressed interest of getting hcg done on the NHS or supplying a request form or drawing enough blood to do the hcg once I'd done the counselling .Just a sort of "well if you reaaaalllly want, you can have hcg you coldhearted cow, but don't expect me to lift a finger to help you, get out that door and find out from zero how to arrange it".

I has the harmony test when I had my third at 40, I think I paid a bit extra for full genome because we already had a child with birth defects. It was for this reason a very stressful pregnancy and I really needed the reassurance. I had no unusual measurements though and CVS was never suggested. Depending how you would feel about disability (i.e. would you terminate), is what would guide my decision. If you wouldn't want a disabled child more than you wouldn't want to lose a healthy one, I would get the CVS test.

I completely forgot to update as been so busy with work but we also got a low chance back thankfully. Can totally relate with what you're feeling, I still feel like I won't be able to relax until the 20 week scan and hopefully hearing that everything's ok (I read somewhere else that a high HCG readings at this stage could signal neural tube defects 😩) the fear is just never ending!

Wishing you a positive and stress free rest of your pregnancy and thank you for making me feel less alone during this!