NIPT and 16 week scan

[CateyA]

Hi guys

I’m having a hard time deciding if to have the combined test and NIPT or not.

My reasoning is I know people who have had low risk results that have had a child with downs and high risk where child ‘normal’

So I just don’t trust the tests and wouldn’t abort unless there was a significant risk of baby suffering.

My question is if the baby has any severe disabilities that would be incompatible with life would these show up in 16 week scan?

I asked my midwife but she was vague and unhelpful and I got the sense she just didn’t know

Xx

Not necessarily, and even the 20 week scan isn't any guarantee. All pregnancies carry a risk, if you're specifically worried re trisomies I'd have the NIPT

If you are concerned about accuracy, forget the combined screening and just get the nipt. It's way more accurate, false negatives are incredibly rare. For example, the harmony test has only had a handful of false negatives, and those were associated with rare placental conditions.

NIPT isn’t any more accurate than the Combined Test for low risk results. Where it is useful is if the CT gives you a high risk result - then it can he more accurate. If you want a definitive answer then a CVS or Amnio test is the only option.

The thing is the NIPT isn’t greatly accurate either .... nuffieldbioethics.org/blog/nipt-private

and we won’t get a amneo due to risk of miscarriage.

Hey @CateyA thanks for starting this thread. I have my 12 week scan on Friday and combined test. We did a lot of research and I agree the NIPT had its downsides too. The combined test seems reasonably accurate and I thought false positives were the biggest problem. It seems highly unlikely to get a low risk result and the baby had one of the three genetic conditions. Are the people who had this happen people you know? I had an ultrasound at 11 weeks already and my sonographer said not to worry because they can tell so much from just the scan. The blood test is just to confirm things. She had a good look at baby and said she'd be surprised if any issues just based on looking. Obviously she couldn't confirm either way as it wasn't the official dating scan but all signs look good. She said most conditions would definitely show up by the 20 week scan. We've decided to have the combined test and if it's high risk we'll have the NIPT. My midwife and sonographer both agreed this is a good course of action and will tell us everything we need to know. Good luck and I hope you get the information you need! xx

I’ve spoken to the screening midwife who was helpful and reassuring

I think I’ve decided not to have the blood test at this time. I think they will panic me and not change anything.

They said they will still measure the Nuchal fold in the scan and flag if they think there are any other abnormalities and we can discuss and then have the blood test or further tests if we feel it’s needed

Yes it was a family friend who had a low risk 1/5000 result for downs and the baby was born with the condition

Tbh we’ve decided if the child has downs we will love it regardless so that specific condition is less of a worry for me.

@CateyA I felt similarly that the NIPT might be a bit much at this point. I'm 40 though so am a little bit worried even though it's still unlikely anything will be wrong. The checks they do at the scan seem pretty reliable.

What a shock for your friend. I'd feel like the system had failed me and be very upset. It does seem extremely unlucky that the scans didn't show signs.

We just want to know so we can assess what impact it would have on our lives and of course our baby. It's a shame the amnio has a risk of mc because it seems the only way to know for sure. Xx

My first pregnancy was low risk and my dd had a serious genetic condition and died aged 13 months. Nothing showed on any scans. It is rare but it does happen :(
Whilst downs is not ideal, the spectrum of how it affects the child is huge. Many people live long, happy, independent lives with the condition.
I am now pregnant again and and will have as many tests as possible - but that is personal choice based on my horrible experience. I would want to know as much as possible in order to prepare rather than tfmr.

I'm so sorry for your loss @Robs20 that sounds like a gruelling experience. I can imagine you wanting to have as many tests as possible. I've taught quite a few children with downs so have seen how diverse the condition can be. We're undecided about what we would do it we find out our baby has a genetic condition. I guess we're just focusing on having the tests done first and going from there.

Congratulations on your pregnancy. I do hope the time goes quickly so you can get the tests done and get some reassurance! Xx

Congratulations. I hope this time around it will be diffrent.

Hi, I had the nipt test and it come back positive for down syndrome. I wanted to be prepared. In my 28 week scans I could see he had a wide gap in his toes and that he didn't have the bone for the bridge of his nose. His leg bone was shorter and his belly was rounder. The extra skin at the back of his neck was there to on my 14week scan. In my 20week scan it showed he had a heart defect acompext asvd that is common with DS and can be fixed. But I know deep down he had it. 3 times we were asked if we suer we wanted to continue the pregnancy. I am so glad we did. He's now 6 weeks old and although it's difficult with his heart defect I would not change him for the world and have no regrets what so ever. Good luck on your journey. X