Risk of Edwards or Patau syndrome 1 in 5 / downs 1/137

[MLR11]

Hi, ladies

I'm hoping that others with similar experiences will be able to advice me a bit better. I've spent the last 24 hours in floods of tears and unable to eat. Being on Covid19 lockdown doesn't help either as i feel so alone. I have Endometriosis and it has taken a while to get pregnant. I had the 12 week scan and everything seemed to be going well, Nuchal fold was 1.4. I opted for the combined Nuchal screening to rule out chromosomal issues. Well, i got the call yesterday that i have a 1/137 chance of down syndrome, and a 1 in 5 of both Edwards and Patau syndrome. Im absolutely devastated. I've waited so long for this baby and now i feel as though it has been taken away. I'm 36, no other children and 14 weeks pregnant. NHS have said that i need to be 15 weeks for the Amnio so i have to wait now until Friday 17th to have it done, then wait even longer for the results. I've booked a private Harmony test for this Thursday, but due to easter holidays it won't be until THursday 16th that i get the results.

I feel so low in mood. I didn't tell anybody i was pregnant as i feared something going wrong. I've told a friend now all this has happened for support, but due to social distancing nobody can come round and be with me.

Has anybody had odds that low before and it's worked out okay?
I was told my Papp-a result was extremely low - 0.07

Hi, I didn’t just want to read and run.

I can’t completely relate to your specific situation but I have recently had an amnio and am awaiting the results so I know how agonising it is to wait.

I just wanted to say that it’s utterly miserable waiting around and fearing the worst, especially as you can’t go out or see anyone. I honestly feel so much for you but it’s so easy to focus on the bad that we forget there are also positive outcomes as well.

Blood tests aren’t always correct and I have friends who have had an amnio and everything was perfectly fine. Also, even though the risk may be high this absolutely doesn’t mean your baby will have anything wrong and there is a good chance you’ll have a perfectly healthy baby :) for example, you mentioned that the risk for downs is 1/137, when you look at this as a percentage that’s still only 0.76% chance.

I know it’s really hard but try and take each day as it comes, you’re doing the best that you can in a really difficult situation so give yourself lots more credit.

Hope everything goes well for you xx

Hi @MLR11 I am so sorry you are being put through all this worry. I was in a similar situation back in January my NT measurement was fine at 1.8 but my pappa was low at 0.19 and combined with my age of 34 it gave me a risk of 1/45 for Down syndrome. I was completely floored and felt very disconnected to the pregnancy. I went down the harmony test and thankfully results came back within a week as highly unlikely. My 20 week scan went fine too and because of my low pappa I will have a growth scan at 28 weeks.
I know it’s impossible not to worry but I think the fact that your NT measurement was low is a good sign. It will be mainly your papp-a level that has given you the high risk factor but just remember low pappa can also mean nothing. Will keep everything crossed for you x

@MLR11 sorry I also meant to add that I know my risk factor wasn’t quite as low as yours but I came across many women with odds similar to yours that came out absolutely fine. Even with the 1/5 the odds are still in your favour x