Please or to access all these features

Antenatal tests

Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Down’s syndrome diagnosis after PGT-A testing - any experience?

76 replies

Claire12098 · 31/07/2023 06:06

Hello, after ivf I am currently in a living nightmare of having received the highest possible risk score on the combined test for T21 (greater than 1 in 2), despite my embryo being PGT-A tested and coming back normal. NT was normal but HcG was off the scale high and papp-a was low. I had convinced myself that this was just the screening false positive and was age related (just turned 40 when eggs were collected) as I could find no examples of this on any forum, however many times I searched.
However, last Friday I was devastated to learn that the nipt came back as high chance too. Today, at nearly 15 weeks, I will have cvs but seems like that is just confirmatory as it’s now something like 90-95% likely that the baby has it. I just can’t get my head around how this could be happening - I know pgta is not 100% but it’s something like 98% accurate. All I keep finding is posts where people are using pgta to avoid exactly this and others which say how rare it is for nipt to contradict a pgta test. A long shot, but has anyone had this happen to them? Also wanted to post this for balance for people considering pgta in future.

OP posts:
Goldfinchesjourney · 25/09/2025 23:05

Fmy · 25/09/2025 10:03

Gosh, I just read this and now appreciate why my clinic sent this letter to my medical team and grateful my team took it seriously and didn't just follow routine. Gosh how much anxiousness that may have led for people that was unnecessary

That is really interesting to hear. The outcome of all of our 'drama' was that our clinic (Care Leeds) said they were going to issue a letter to all of their couples who were discharged explaining the issue with the combined screening bloodwork.

It sounds like that is actually happening which is great news as it is definitely an avoidable stress that sadly lots of people go through.

My little miracle is now almost 1 and totally unaffected by the pure angst we had after the combined screening result. He is a happy, healthy, cheeky little bub and the most beautiful rainbow baby we could have ever hoped for.

Wishing you the best of luck with your pregnancy and I am glad to hear that my previous posts were useful.

New posts on this thread. Refresh page