Anyone had 2 no results harmony tests and then a clear amnio?

[ttcchapter1]

Got two no results on harmony after an abnormal quad test result that even the nhs dr didn't think was accurate.

Anyone had two no results and then a clear amnio?

No personal experience but 2x no result = higher chance of a problem but not necessarily any issue! Off the top of my head I think maybe maximum a few % chance of a chromosomal difference?
It’s a little bit different for you if it’s in the context of an abnormal quad test though - not sure if you want to share details at all? Have you had your amnio yet?
Sorry you’re going through this, hopefully someone with personal experience will come along to share as well.

@TenThousandSpoons0 hi, well im 25 years old and quad test showed high inhibin A which dr thought was unusually high and the only thing that pushed me into the higher risk bracket for downs syndrome. I also have grey platelet syndrome which means im prone to more bleeding etc hut they dont know if that plays a part in the result.

What do you think the issue may be with the no result? Amnio is scheduled for next week.

I had no result on harmony three times and was super worried (2 x not enough fetal dna and 1 technical error) - on the fourth try it finally got a result and everything was very low risk so hopefully you'll be fine too!

How many weeks were you when you got tested? Apparently if you're not very far it'll come back with no result.....even thou they say from 10 weeks, but the midwife I've seen said this is way too early and 14 better.
I hope it is all ok for for x

Ah haven’t heard of grey platelet syndrome, is it autoimmune?
The no result can be caused by a few things - high BMI and testing too early are a couple of reasons. Autoimmune disease is another. Basically there needs to be enough fetal DNA fragments in your blood in order to make a result - this is called “fetal fraction”. If the fetal fraction is too low = no result. This can just be something that happens, but it’s been shown that there is a higher chance of a chromosomal problem as sometimes chromosomal problems in the baby can cause the fetal fraction to be lower. That’s why they tend to offer amnio instead of ignoring or just keeping repeating.
That said - “no result” doesn’t usually happen with Down syndrome, and it sounds like the grey platelet syndrome may be the issue with the testing, so I’d stay pretty positive if I were you.
Good luck - and if you’re not already aware, amnio is usually very quick and straightforward and not particularly painful - most people say it’s way better than they were expecting :)

@TenThousandSpoons0 thank you so much. Your information is super helpful. I just googled to check and grey platelet syndrome can mimic some autoimmune conditions so I'm unsure and so is my dr as to whether it plays a role but I am being referred for more testing etc alongside my pregnancy.

Are you a dr or a midwife?

If there was some fetal dna but very little, and the baby had down syndrome or a trisomy, would that be detected in every cell of fetal dna? Or do the need a certain amount of fetal dna to tell? As in, cud it be the lab didn't find any risk of downs or a trisomy but didnt want to say yes or no as there wasn't enough cells.

The fetal DNA isn’t in cells as such - the test is for “ffDNA” or free fetal DNA. Basically it’s DNA fragments, mostly placental, that circulate in your blood in small amounts from the start of pregnancy - the amount increases as the pregnancy progresses. The amazing technology is able to sort those fragments and decide which chromosome they come from - and if there’s a disproportionate amount of fragments from one chromosome then that identifies a higher risk of a chromosomal abnormality (for example, more fragments belonging to chromosome 21 compared to the other chromosomes = more chance of t21/Down syndrome). Importantly though it’s not exact - so a high risk result doesn’t mean there’s a problem, it’s still just a screening test.

There are some better explanations with pictures around about how the technology works - there should be information files about it if you look at the website for whichever lab did your test (eg Harmony/panorama).

If there aren’t enough free bits of fetal DNA = low “fetal fraction” then the result isn’t reliable and so they don’t make a call. Better for them not to tell you information that isn’t necessarily correct!
I did a bit of googling as well - your syndrome seems very interesting and very very rare (you’re probably tired of being “interesting”). Assume you’ve got a high risk
Obstetrician/obstetric clinic overseeing things for you for the pregnancy :) hope everything goes great for you.

@ttcchapter1, from my personal experience I will avoid the harmony test in the future. I got no results twice due to low fetal DNA (4.3%). The blood was taken at 11 and 14 weeks and my BMI is in the normal range, 24. I spent weeks thinking something was wrong, and I read anything I could find online. I've found that many women were in the same position and got eventually an healthy baby. Not sure if you read this from the company that produces the test www.sonicgenetics.com.au/patient/test-information/nipt/when-there-is-no-result/

Anyway at the end I decided to try another nipt called Prenatalsafe, which gives results even when the fetal DNA is low. I got the results after 3 days, all low risk.

Hi @Emma5557, just wondering if your baby was all ok? I also got told lower fetal fraction twice after the Harmony test. I’m having twins so perhaps that has something to do with it?

@friedgreentomatopop yes, he's an healthy baby boy! A low fetal DNA fraction doesn't necessarily mean there is something wrong... But I understand how you feel! You can try a different test if you really want to, but you need to find (or better discuss with someone qualified) which test is the most suitable for twins.

I had no result twice, I was worried sick and wish I'd never had these tests. I decided to do nothing in the end and currently sat feeding my healthy and perfect 6wk old baby girl.

Thanks so much @Emma5557 @MaryShelley1818 you've both reassured me a lot (something I was hoping the harmony test would do) Congrats on your previous little ones x