High risk of Edwards and pataus syndrome

[Ally13]

Hi everyone, I’m currently 13 weeks and 2 days pregnant with my first baby, yesterday I had the phone call that my screening tests come back high for Edwards and pataus syndrome. We are 1:25 meaning a 96% chance everything will be fine. The midwife said I have low pap but my 12 week scan was absolutely fine, the fluid measured fine and my baby was wriggling around. I went into the hospital and had further tests where they test the babies DNA from my blood, they said this can take up to 11 days to come back and I am absolutely beside myself. Has anyone been in a similar Situation that come out positive??

Yes I did, my chance was 1in5 for downs, edwards or patus. I had an amnio and got a call the next day my results were clear, I had to wait a further 10 days for them to check all other chromosomes abnormalities which also came back clear.

My baby measuring small soneeding this test . I’m 24 week and baby on 3rd centile x

Oh fab x

Hope you do t mind me asking but what was the update from this? I'm currently in the same situation and I'm just going out of my mind

@SAJ70 we had the NIPT testing and they come back as low risk, we went for further scans at 16 weeks and was told that everything looked to be heading in the right way, but she was on the smaller side, we also had our gender reveal and she was a girl. We went for our 20 nhs scan and was told there was no heartbeat. A couple of days later I was induced and gave birth to a beautiful baby girl. We chose a post Morton but we are still waiting for the results of that. It couldn’t be completely unrelated to the screening tests so please try to stay calm and wait for your further test results if you have had them. We said if this was to ever happen again we would go for amnio and get a straight answer. Sending you all my love and hope that everything is perfect and you have a beautiful baby. If I can help in anyway just let me know

I am so sorry to hear this, my heart really does go out to you.
Thank you so much, at my dating scan baby was measuring 12w5d NT levels 1.6 and all seemed fine.
My blood results came back 1 in 93 risk of Down syndrome
1in 28 risk of Edwards and Patau
I also have low Papp-A 0.11
And I'm 27 years old
I'm honestly going out of my mi d waiting for my NIPT results, we have never got this far in a pregnancy after 3 previous MC .

@SAJ70 i had low Papp-A levels too but my NIPT come back clear, try to think positive I know it’s hard. Many women have had high results and gone on to have healthy babies. Sending love and hope your rainbow baby is well

@Ally13 im so sorry for your loss, I can’t imagine what you went through.

just wanted to add, if your nipt was ok and there were no abnormal chromosomes, the small growth and still birth could have been from low Papp-a, as it’s an indicator of placental function and it’s associated with preterm, IUGR, still birth risks. This could be useful to know for future pregnancies, to take a recommended dose of aspirin from trying to conceive through pregnancy (it’s recommended for conceiving and miscarriage loss too, along with NAC). But pls check with dr first to see what they say in your case.

I had low Papp a both pregnancies and taking aspirin. Now for the 2nd pregnancy they want me to replace the aspirin with a blood thinner injection, clexane, from 28 weeks.

all the best for the future x

@CristinaNov182 I’ve just found out I am pregnant again, but my line progression seems to be getting lighter and I’m absolutely terrified. This pregnancy was unexpected but now I’m expecting miscarriage. Thank you for your information. This is my line progression

@Ally13 i don’t know how reliable the lines are. You can call the gp and arrange for an early appointment, with your history, there could be some early interventions for you, like aspirin or something else. Fingers crossed x.

Thank you so much for your help and best of luck with the rest of your pregnancy

@Ally13 Good luck with your pregnancy. Keeping my fingers crossed for you.

@SAJ70 When I was pregnant with DD, my results came back as 1 in 17 for DS. I had the NIPT and waited for 10 long days. The test came back as less than 1 in 50,000 chance of having DS. She was born perfectly healthy 3 years ago.

Thank you so much! I’m so worried, just going to keep testing. So pleased you had a healthy baby