High risk NIPT

[Tink12345]

Is there any hope that a CVS will say any different? 😞😞 Had 1 in 5 for DS with combined, then 99% NIPT. CVS yesterday. Hoping initial results by Thursday.

Hi OP. I'm not sure of the answer to this, but didn't want to read and run. Praying for you 🙏 💐

There will be approximately a 20% chance that NIPT has given a false positive.

NIPT is very unreliable in terms of positive predictive value (ppv) i. e. Predicting diagnostics. However it is generally highest for Downs at around 80% (NIPT is only 30% predictive in some instances).

CVS, particularly long-term culture will tell you more. It is a biopsy of the placenta but not of baby - although often placenta matches baby unless there is confined placental mosaicism. This can mean false positives in some instances.

CVS can also identify mosaic results in longer-term culture which could be confirmed/ruled out through amniocentesis. If foetus is mosaic, that may mean only some cells have Downs and some may be normal/healthy etc.

It’s very accurate, but never 100% so there is always a chance. Thinking of you.

To be very very clear, NIPT diagnostic accuracy is not 99%. It is a statistic thrown around to deliberately mislead and gain custom (attached articles below). As I’ve said, it is more 80% accurate for Downs (above comment).

www.asa.org.uk/news/non-invasive-prenatal-testing-nipt-a-look-at-the-asa-s-rulings.html

www.itv.com/news/2019-11-20/ads-for-three-prenatal-genetic-test-firms-banned-for-using-misleading-statistics/

Wishing you all the best and thinking of you xx

So results came back positive. Thanks for your help

@Tink12345 will you be waiting for the long-term culture? An initial positive with CVS does not necessarily mean baby isn’t healthy. I got a positive CVS for Edwards and then a negative amniocentesis.

It is a personal decision but I am now 29 weeks pregnant with a healthy baby from what we can now tell. If I had gone on the initial CVS result, I may have been in a very different position now.

Sending lots of love x

How long does the long term take?
At the CVS scan they noted that the liquid on the neck area had spread along the back and around the head of baby (cant remember what they called it) and they said that that is a strong indicator of genetic issues and is also another issue in itself.

Cut off for surgical termination for me is at the end of this month. I dont think I could cope with medical. What if I wait, get told the same news and then have missed the surgical route?

I have a phone call with the genetics midwife tomorrow to discuss everything. I have never felt so heartbroken and desolate in all my life.

Hi Tink IFAIK, surgical can be performed up to 24 weeks so you won’t miss it I don’t think. Although you’ll have to check with someone better than me.

Hope you’re feeling ok lots of love

@Tink12345 it normally takes up to 3 weeks for the full CVS culture from the time of the procedure.

It is a very personal decision. My heart goes out to you, I am so so sorry you are facing this.

My circumstances were different as there were no abnormalities in the ultrasounds I had and I think that kept me going at least in part.

Whatever you do, sending positive thoughts your way. It is an awful situation to face xxx