1% DNA in NIPT and high chance of Downs 1:68

[GTMartinez]

I’m just seeking peace of mind.. I am 38, high HCG (over 5 MoM), high-ish nuchal fold of 2.3mm and estimated a 1:68 chance of downs. I have just done the NIPT and it’s come back “inconclusive” due to less than 1% fetal DNA in my blood. I’m getting retested but google is really being my enemy here.. I just want to know if anyone else has had similar results and what were the outcomes? Thanks everyone 😊

Don’t google! It will drive you mad. All I can say is my last pregnancy I was a 1:4 chance of DS and a previous pregnancy I was 1:6 and both are fine. However you will get many good and bad stories on here. I had a CVS in both cases

An inconclusive result happens quite often (around 1 in 33 tests) and low fetal DNA can be for a variety of innocuous reasons but Google is very rarely your friend when worried, so step away.

For what it’s worth, I don’t think that nuchal fold measurement is high. Don’t forget that the sonographer will have measured the fold on multiple occasions during your scan but it’s only the highest measurement that is used in the combined test calculation.

DO NOT use Dr Google!! Think of it this way, your baby has a 67-1 chance of not having DS, suddenly that sounds much better doesn’t it? Are there more detailed tests available? Maybe for peace of mind.

A proportion of NIPT will fail to give a result. You need about 10% fetal DNA to get a reliable result so it is good that they have said they should retest. If the retest fails I would advise meeting with a fetal medicine specialist for a rescan & discussion to consider an invasive test if you feel that you need to know about Down’s syndrome
BTW that nuchal is well within “normal” range. What was PAPP-A? It is the relationship between the hormone levels that gives an indication. That HCG alone is not something of particular concern.
Happy to review the result if you want to PM me

Thanks so much to all of you for taking the time to reply and reassure.. I really thought my post would get lost in an ocean. As you’ve all recommended, I’m stepping away from google and focusing on the positive results instead (like the 98% probability all will be OK). The waiting game is the worst, and half wish I hadn’t been informed of any probability, or taken the NIPT, but I’m down the rabbit hole now and the unknown is just too all-consuming. Thanks again for the support ! I’ll let you know how I get on with 2nd test.

It is very common to view Down’s syndrome negatively, but most people have little actual information about what the condition is & means. If you are interested in knowing more, this is a good place to start positiveaboutdownsyndrome.co.uk/standard/
I am totally open to whatever choice people make for themselves, but I am keen that it should be an informed decision

@GTMartinez any news?

thank you @Nanmumandmidwife! Still waiting - Not long to go, Tuesday morning we get results from the 2nd NIPT, and I’ll be sure to post results. Xxx

So, they managed to extract 6% this time - but the doctor wouldn’t give us the report as it came back incomplete - missing 3 critical lines in the results section referring to the 3 trisomies.

Doctor didn’t seem best pleased with the lab. First time round, rather than stating “not conclusive” due to 1% fraction, they reported a low risk, and this time, some vital information is missing from the report.

She did say she wasn’t concerned, because in the “interpretation” section, the report said low risk to all disorders.

My only issue now, is I just don’t trust the lab. Even when I receive the completed report, (and I know this is me being dramatic) but how do I know they haven’t given me someone else’s results?! I mean, they’ve bypassed correct protocol 2 out of 2 time’s.. anything is possible.

That said - I now don’t want to risk amnio. Ultrasounds all look good, so I think I’ll try and forget about it and just look forward to meeting her in May ❤️

UPDATE
Nothing missing in the report, it's just a new format introduced this week and I was the first patient to receive it!

6% fetal fraction and low risk for all trisomies. No Y chromosomes found, so little Emilia it is :)

I just want to say thanks to all of you for your support.. Xxx