High Risk for Down Syndrome/Edwards-Positive Stories needed please!

[MumOfMiracles]

Hi lovely Mummy's, really need encouragement today, this is my 3rd pregnancy and after a really wonderful 12 week scan seeing my sweet baby. Got a call 2 days later to say I am high risk for Downs (1 in 143 chance) and Edward's (1 in 243) For my last 2 it was 1 in over a thousand so this really came as a shock! Not only that I have low Pappa-A so am taking aspirin every night to support my placenta. Keeping all this quiet from friends and family as I don't want the pressure of keeping them posted and dealing with their reactions to the news. So feeling very overwhelmed right now emotionally and have opted to take the Iona test on Monday (NHS version of Harmony) to get a better idea of what my chances really are.

Positive stories or any words of comfort or encouragement would mean so much right now.

Thank you! xx

Kelly, I am so deeply sorry for the loss of your precious little angel, I've no doubt that she knew just how deeply loved she was all those months she was growing inside you. Can't imagine the grief you must be feeling and sending all my love and prayers to you and your family. x

Good luck with the wait. I had to do a few tests due to errors and was left waiting so I know how torturous that is x

hey, I had my 12 week scan and everything looked great. NT was only 1.7 but got a letter in from the screening saying I had a higher chance of 1 in 64 of Edward’s and patau’s based off of a 1 in 150. I am absolutely distraught and thinking the absolute worst. My PAPP-A levels are 0.24 she said and they’re supposed to be around 0.4. Today I got the NIPT so I just pray it all comes back okay.

Hi there @mands041195

Firstly, try not to panic but I know it's hard not to. 1 in 64 is still fairly unlikely.

I had an exceptionally high NT of 8mm and mine came back as 1 in 5 risk for Edwards. A NIPT came back high risk for Edwards too, and we had a termination.

Low Papp-A can be an indicator of other things, generally a smaller baby so you would be offered more monitoring.

This is a really good post to read https://www.mumsnet.com/talk/antenatal_tests_choices/4939237-info-for-those-with-a-high-risk-screening-result

1 in 64 chance isn't too bad, you still have a High chance of the nipt coming back ok. I had a 1 in 5 of edwards so did the nipt which also gave me High chance. We opted to continue and the amnio confirmed Edwards.

@mands041195 my screening tests were very similar during pregnancy. I even had a positive CVS test for Trisomy 18/Edwards.

I feel I should make you aware that screening and “diagnostic” tests are extremely inaccurate for T18 and T13 and most medical literature is out of date too. This is because mosaicism, low level mosaicism, confined placental mosaicism etc are very common for these Trisomies. NIPT only positively detects T18 one third of the time - so even a positive NIPT doesn’t mean your baby is impacted.

Yes these conditions can be devastating, but also the negativity around these conditions can be misleading. And sadly people are recommended NIPT unaware it is very inaccurate for these conditions.

Long story short, despite 3 months of testing and 6 months of close monitoring during my pregnancy, I now have a perfectly healthy 4 year old. The same baby I was told would be “incompatible with life”.

@Kellyd79 did you end up keeping the baby if you don’t mind me asking?

@mands041195 we chose to continue with the pregnancy as she was showing to have very little signs of edwards, all she had was an exomphalos and she was very slightly underweight, everything else was fine so we hoped for the best. Unfortunately she developed a blood clot on the umbilical cord and passed away when I was 36 weeks pregnant. I have my fingers crossed for you.

@Kellyd79 im so sorry for your loss 😔 thanks so much it means a lot, I just hope my little one is going to be okay. I’m trying to stay strong but it’s so hard x

@mands041195 how are you? Any updates?

hey I got my results back and got low chance for them all, I feel so so blessed and just relieved that it all came back okay. Was such a worry! Also on aspirin for my low PAPP A levels xx

@mands041195 that’s fantastic. Fingers crossed everything goes smoothly for you from now on x

thank you so much Sarah xx