NT 4.9mm and panicking

[Jude0806]

NT 4.9mm
I’m 12 weeks 3 days pregnant and today was our scan, we had 2 previous private scans, due to a previous miscarriage, nothing was picked up, but they are very quick, nhs was much more in depth. Baby didn’t play ball very well, but they suspect NT is 4.9mm which worried me a little, then I had a phone call with an urgent referral to a London hospital with in 5 days.
It was a bit of information overload, and I got a bit emotional hearing the possibilities.
Hopefully I will hear soon, but please could any one tell me if they had similar and the out comes good and bad.
I am 41 so this goes against me.

My 12 week scan was at 13+5 and the NT measured 3.8. I could tell straight away it was too high as I could physically see the fluid behind his neck and my scan picture is a reminder of that. I was taken straight in to a room to see a specialist midwife who apologised ‘for meeting in these circumstances’. I was so upset and felt that this must mean the worst. I was told all the possible outcomes and asked what I wanted to do. I chose to have a blood test and the results came back 1:160 for downs (I am 31) baring in mind my other two children came back 1:10,000 risk so this worried me. I had time off work during the wait for the bloods because I was just so in shock and upset with the possibilities. The cut off for high risk is 1:150 for a more in depth NHS blood test so I paid for a private NIPT which came back 1:10,000. I would have had the amnio if the results had been different or if I wasn't in a position to have the private test (£400). Everything since then has been fine but they said they can not guarantee until he is born that nothing is wrong however scans have been positive🤞🏼I’m 38 weeks now. It may be that your risk ratio comes back higher due to your age so be prepared for that but that doesn’t mean something is wrong. As easy as it is to say try not to worry as I have researched and read much more positive than negative outcomes especially as your NT (although it is higher than normal) could be much higher (as they said to me) x

Because of your risk factor you will be referred to foetal medicine for more scans and tests if you want them .

I had the same and my son has SN. He is 12 so they didn't offer the micro array routinely on the baby in utero then .

Just ask lots of questions and be aware that the doctors don't know everything . We were told my son was ok and he isn't .

Does your baby have any other soft markers. ? Were your bloods off or is it just your age and the NF measurement ?

At the minute it’s just the NT and my age, I’m just waiting for the London appointment, the scan was only today and she said I’d be seen in London with in 5 days, so I’m just going to have to keep busy.
sorry to ask, what is SN?

Special needs

Thank you 🙏 I’ve got everything crossed for you. It’s such a worry x

@Jude0806 Mine was high too and we got the urgent referral. I was in absolute bits, older mum too. But when we went to the specialist, she re measured and said the NT was totally normal. I remember her saying something about how tiny the area is to try to measure and the margin of error and how easy it was to get even a slight misreading. We were still monitored throughout pregnancy as a precaution and all was fine.

Amazing thank you so much. This gives me hope x

I am sadly also someone who this happened to. Big NT at 12 week scan, was told the baby was ok after extra testing (had an amnio) but my baby was born with serious disabilities- a very rare disease. I think it can go either way, because there are plenty of people for whom it all goes well following this news.

I’m really sorry you’re having to deal with this and wish you the best of luck.

Are you in a position to pay for private NIPT testing? It is about £500 but gives more accurate diagnosis than the screening programme bloods

It is terrifying when they give you a high chance like that. I got a 1:63 chance on my scan and it was really really upsetting to be given that news. I got the NIPT test on the NHS (very grateful to have had that option) and it came back low chance - I haven’t had my wee one yet but nothing of concern has been spotted in any of my growth scans. Fingers crossed for you the next test comes back low.

Thank you :-) I hope you are okay? How is baby?

i think if the london appointment gives me more doubt I will probably go this route. Thank you

My friend was 1:4 her child was born without any genetic conditions.

She only had the scan and initial bloods. She refused all further testing and offers to terminate.

Be aware that although the NIPT is very accurate for Downs - it is still just a screening and not a diagnosis. It is also less accurate for other conditions.

It may be useful to try to find out your blood results as they may give a pointer. We had an obviously large NT on scans and slightly dodgy bloods. I had a CVS which cleared us for Downs/Edwards/Patau but unfortunately we had a problem later detected on the full karyotype. I think we were unlucky though. Especially if your bloods aren’t too bad, it can also be an indicator of a heart problem, rather than a wider condition - and many of the heart conditions are very treatable. (That is what I had been hoping for! Well, aside from it just being one of those things). I believe statistically, boys are more likely to have a good prognosis - some just have slightly wider necks. You should usually be offered a detailed heart scan at around 16 weeks.

I know from experience that the wait is absolutely agonising. You will get through this.

So update, I went to st Thomas’s and had a CVS.
Part of me thought they’d tell me the local hospital made a mistake 😢 the emotional wait for results now x

What a difficult few days you've had. I hope you get good news in the end.

It’s scary waiting for the results. Hoping for the best for you.

I’m so scared and having mild pain and some bleeding now 😢

That does sometimes happen after a CVS and usually settles down.
Are you bleeding much?

Thank you, I hope that’s the case, it’s not like a period but every time I go to the toilet and wipe it’s a fair amount. Just hoping it’s okay, another scan tomorrow x

(BTW did you realise that the Reply button on Mumsnet is broken?
To respond to someone, click on the three dots and select QUOTE)

Thank you, no I didn’t realise x

Good luck. It’s the most horrible thing to go through. I hope that the bleeding stops and that the CVS results are good.

Thank you 🥰 off for a scan in a shortly😬