Waiting for NIPT results 1:21 risk of Downs

[ExpectingMum0201]

Hi, I am new to this and never really get involved in these types of forums but I really believe that MN was my life line during this past week that I was compelled to write something only to be able to provide the same support to other expectant mums in the same situation.

I have two lovely boys aged 3 and 6 and am now on my third pregnancy aged 39. Last week I was given the terrifying combined screening results after my NCT scan that I had a 1:21 risk of a baby with DS. My NT measurement was 2.3mm, PAPP A at 0.75 and HCG level was 2.99 so it was most likely my bloods that provided such a high risk alongside my age.

I decided to have the SAFE Test rather than going straight to the CVS or Amnio as I was aware of the risks involved.

From the time that I took the test to the period of receiving the results, I can truly say that it was the most nerve wracking experience I have ever been through in my life. I didn't sleep, eat and the anxiety was eating me up alongside having to deal with two kids, homeschooling (being in lockdown) and working from home. My DH was supportive but his way of dealing with things is to not have to think about it until the time comes. So it was very difficult to be able to express my emotions fully to someone who was going through the same thing.

Anyway I am so pleased to say that I received my results this morning after waiting patiently for 8 days to find that my results were low risk and came back with a probability of 1:100000. Although I am still a little anxious contemplating whether I should go for the Amnio but I think for now I am just happy with the probability score that I may just wait until my 20 week scan to ensure that everything is well for certain.

Just wanted to share this with some of you mothers as I know how crazy this time can be!

Congratulations on getting the low risk result on the NIPT - that's so reassuring. From what I've read, it seems like the higher risk on the combined test is often linked with age as the main factor. I am waiting on an NIPT result right now (haven't had the combined test yet) and was told that if it's a low risk result there is no reason to proceed to the amnio. The technician essentially said that the predictive value is so high that you can just relax now!

Thank you SO much @ExpectingMum0201 for sharing this.

I have 3dc from a previous relationship and when I was younger.

I’m now 38 (39 this year), and early days pregnant with my fourth.

I am fully prepared that due to my age alone my risk result from the combined screening will be a high one, but I know regardless it will still terrify me seeing it in numbers on paper.

We’ve already said we’ll be paying privately for the harmony testing. I just hope and pray that when the time comes I might be as lucky to get a fantastic result as you have.

I have contemplated going straight for the amnio to get a definitive answer but after suffering 4 miscarriages I’m reluctant to do anything with a risk.

Thank you again for sharing and congratulations!

Thank you ladies. Yes I completely know the waiting is so daunting and for me it was the keeping the brave face on infront of the children which was the hardest bit.

@WolfMother326 to be fair had I known about all this when I first got pregnant, I probably would have chosen to do the NIPT test too but since my first two pregnancies were a complete breeze, I was ignorant to the possibility of being high risk. Good luck on your
results, fingers crossed all goes well. Keep us updated.

@Moominmiss Yes the risk is always so much higher due to our age but honestly i had no clue about this before. But i think there is a lot more contributing factors towards the blood results for example just before my bloods had been taken i had just been 6 days out of isolation from recovering from Covid-19 so i have no idea if that may have affected them but something did. I would definitely attempt the harmony test first prior to doing the Amnio. If your odds are really good you'll save your yourself that 1% risk with the Amnio.

Thanks @ExpectingMum0201. Have just heard I'll hopefully get the results on Monday, due to a delay in the lab. Will report back!

Hi @ExpectingMum0201 (and also @Moominmiss - we were chatting about this on my other thread!) - after so much anxiety I received my results this morning and have a less then 1 in 10,000 chance for Downs, Edwards and Patau's. Feeling hugely relieved. My 12 week scan is in 10 days' time, and I think I will still have the nuchal scan as it looks for heart issues apparently, but I won't go ahead with the blood test.

Awww I am so happy for you @WolfMother326. Always is a relief when you know your baby is somewhat healthy. My dilemma I’m having now is whether I should still have the Amnio even though we are very low risk? Maybe I’m just being overly conscious given the high risk results we were given initially? But it’s just something that has been playing on my mind...

I would not personally put myself through the amnio in your position. If you only had a 1:21 risk from the combined test, that is still less than a 5% chance, and then having had the NIPT and a good result, the likelihood of a problem is miniscule. I was told that the NIPT is incredibly accurate - I hope you can rest assured. Maybe you can discuss the NIPT results a bit with your midwife, or the consultant from the clinic where you had the NIPT done?

I honestly wouldn't risk the pregnancy for a 1:100000 chance. I understand you might want to end the pregnancy if it was possible but there's literally a 0.001% chance.

@Moominmiss your age alone won't make you high risk. I had my twins at 37 having anyway had one wonky chromosome child and my results were low risk for it all. Best of luck