1:3 chance of Edwards patau and 1:60 of downs. nT 2

[Kdgp]

Hi, iv received the devastating news this morning from combined screening that my baby has a 1:3 chance of Edwards /patau and 1:60 of down syndrome. My NT was 2 at scan last week and baby was 12+2. Im going for NIPT testing tomorrow and am beside myself with worry and tears... Is there anyone on here that has had similar numbers that can offer reassurance in any way 🙏 iv got a 4 year old and this is my second pregnancy this year (first ended in a miscarriage at 9 weeks) life can be so cruel💔

My baby was 1 in 4 for edwards/patau 12 years ago and waiting for the results was one of the toughest weeks of my life. I feel for you and I remember I was in pieces. He is now in year 7 and was a perfectly healthy baby. I know this will offer limited comfort but we are an example of a good outcome after frighteningly bad odds. Take care OP.

Thank you so much for your message, that has offered me alot of comfort having read lots of posts where the odds are all over 1:50. You have given me hope. Did you have the NIPT then amniocentesis? (If you don't mind me asking) thank you so much for your reply xx

So 12 years ago it was a scan where dozens of measurements were taken at a scan. Like the one detailed here

….www.harrisbirthright.org/11-14scan.htm

This was part of a global study which referenced 100,000s of pregnancy outcomes around the world to provide accurate risks of chromosomal abnormalities.

I can’t speak for the accuracy of our scan compared to NIPT but I believe this study is still ongoing.

NIPT came a few years after.

amniocentesis was carried out the same day with the results a week after.

Thinking of you today. I hope you are ok x

I've just been listening to a woman who had a baby with Patau's on BBC Sounds. The programme is Room 5. It's series 1, episode 3: Serena. If nothing else it might just make you feel a bit less lonely at this very very difficult time for you.

Thank you, I'm feeling more hopeful today having been told how rare Edwards+patau actually is and that the initial screening has an 80% false positive rare 🙏🤞 praying so much that the odds will be in my favour. Xx

Thank you xx

What was your NT measurement? Are there any other soft markers on your scan?

I am sorry to say this but if the NT measurement was high, it isn't just Patau's/Edward's and Down's that the baby may have, there may be another genetic syndrome.

It's worth asking your consultant about this

The NT was 2, not entirely sure what you mean by soft markers? A nasal bone and nose was clearly seen, two arms, legs and the sonographer said everything looked as it should, think that's why I was so shocked. I have a 4yo that was/is healthy, normal BMI of 25.

There is a list of soft markers here - might be worth looking through your scan reports to see if any were mentioned:

radiopaedia.org/articles/antenatal-soft-markers-on-ultrasound?lang=gb

That is a relatively low NT which is a good sign

Lots of measurements would be taken at the scan. Many of them in isolation don’t mean an awful lot but I believe the combination of measurements are used to calculate a risk. With our child his bladder size stood out as did the NT measurement. He was fine in the end. His bladder was normal at 20 weeks.

I remember the feeling of being told at the scan and while waiting for the results. You won’t need to ask your consultant anything. They will give you all the information you need.

Thank you, none of these were mentioned on my scan report. All I can do is sit and hope for a good outcome 🙏

I just wanted to come on and update my post incase it can offer anyone else comfort. Iv spent the last week reading back through pages and pages on mumsnet and found it gave me a small sense of control in a very worrying time.

Yesterday I got the news that despite my odds of 1:3 for E+P and 1:60 for DS my NIPT has come back low risk, I need to start aspirin as my pappA is very low. Good luck to anyone going through this torturing time ❤️ xx

That must feel like such a relief. I remember exactly where I was when I received the good news nearly 12 years ago. I’m sorry you had to go through so much anguish. Thanks for updating us xxx

Thanks for updating. I’m currently waiting for my NIPT results and your post has given me comfort x