High risk for Down’s syndrome and Edwards and Pataus syndrome

[Lockdownbabies]

Hi all just had results back from combined scan and there was too much fluid at back of babies neck my results have come back as
1:11 chance of Edwards and Pataus
And 1:41 for down syndrome
Anyone had similar results but baby has been fine???

I had a 1 in 60 chance of my baby having Down’s Syndrome. The NIPT Test came back as 1 in a million chance!

Thank you @Bigkingdom That’s somewhat reassuring!! Did you also have more fluid on back of babies neck??

@Lockdownbabies my measurement was 2.6mm so within the normal but on the larger side of normal.

Sorry OP. What was the NT measurement? I had the NIPT and the NT was 6.5mm and the results showed Patau syndrome. Unfortunately, it was not a good outcome though.

Are you having the NIPT, CVS or amnio? What are you next steps?

@ Elouera it was 6.8 this is what is making me loose all hope completely as storied Iv heard of success and everything coming back normal are high as in like 4. Something and mines so much higher as your was

I’m so sorry to hear yours was not a good outcome I am going in tomorrow for a CVS is this what you had or?

@ Elouera sorry just re read and read you had the NIPT what is the difference if you don’t one me asking?

@Bigkingdom I’m glad your was in the normal range

@Lockdownbabies- Sorry to hear that. I was offered either CVS or amnio, but the scan showed such obvious physical problems, that I was given the choice. Did they see anything on your scans?

I was 11 weeks, and they could see a cleft face (not just cleft lip) and I too could see this once pointed out. Abnormalities in the brain, only a single umbilical vein instead of 2, a huge hernia around the umbilical cord and other things. We chose TFMR 2 days later which I have no regrets about at all.

ARC are a useful resource for pregnancy choices and tests. If you have any questions, just ask xxx

www.arc-uk.org/

@Elouera I’m so sorry that must have been awful for you!

No my scan was going really well she said all measurements were fine everything was as it should untill she measures fluid on back of babies neck (which she struggled with due to baby not playing ball and moving into a good position) when she finally was able to somewhat see she said it measured 6.8mm

If you don’t kind me asking as I know it’s very sensitive subject what happened when you had the TFMR was it a tablet or sorry I just have all these questions running around in my head as I’m expecting the worst outcome!

Thank you I have had a quick look on ARC and it looks really useful I will be looking at this a lot more

My PAP A was also low I don’t know if this makes difference

My nuchal scan read high and I was warned the baby could be Downs (an older mother at 36), but the baby was absolutely fine. I can't remember exactly what the reading was, I have it somewhere here in my maternity notes that I availed myself of ;-) , I'll have a quick look. They said the chances of a miscarriage for amniocentesis was about 1% and as we wouldn't have terminated anyway whatever, we decided to take the risk. All totally fine.

@ TimeWastingButFun I’m glad it all turned out ok for you and you had a healthy pregnancy

@Lockdownbabies- I wish I'd had someone to ask at the time, so I'm happy to answer if it can help someone else. its a good sign that the rest of the scan was normal. Maybe it was just the odd position that made it seem like added fluid?

I was 11 weeks, so just assumed it would be D&C. They however advised on medical management with tablets. I have 3, tiny fibroids (less than 2cm each) and they said that due to the very slight increase of uterine damage from D&C, and the fibroids, medical management would be better. I now think it would have been easier to do the histology/autopsy that way, with everything intact, but I really don't know the true reasons.

I believe people are often given a tablet orally, then 2 days later, have the vaginal ones. I was only given the vaginal ones, but it still worked eventually.

Hello our now perfectly healthy 9 year old had a 1 in 5 chance of the same syndromes. The markers were the nucal fold and bladder size. We opted for amniocentesis and after a really difficult week we found out all was well.

I'm aware others may visit the thread who didn't get the result they wanted and you yourself have a horrible wait ahead to find out.

I wish you all the best OP and love to everyone else.

@ Elouera thank you so much for answering it’s really helpful to speak to someone who went though a similar kind of thing!

That’s what I keep telling myself maybe baby was in wrong position and measurements are wrong but 1:11 of Edwards or Pataus just doesn’t sound good

Did it hurt? Sorry I know they are difficult questions and you don’t have to answer I’m grateful for what you have already told me so far

@ Itsoverpeople wow 1 in 5 I’m so glad everything turned out well for you I’m hoping my story can be a success like yours but hard to think of positives right now
Thank you

@ Itsoverpeople were you 1 in 5 for all 3 syndromes

I was 1/100. The CVS was much better as we got the result so much quicker.

@MidLifeCrisis007 thanks I’m glad all was ok for you,
A lot of people messaging me had high result were like over 35 so this concerns me about my case also as I’m only 24 which makes me think it will be bad news as it’s not in the “typical age range” for high results

Hello, I had very similar odds, I was 1:42 for downs and even higher odds for Edwards and Patau, similar to yours I think. Low Hcg and papp-A but only slightly high nuchal fold, 2.8 ish. CVS was all clear.

Best of luck for the CVS tomorrow. They need to look at a scan while they do it to ensure safe positioning, so if you prefer not to see that scan ask them to turn the screen away.

Please remember 1 in 11 means over 80% chance all is fine.

6.8 mm is a high number so if not a trisomy could indicate something else. With variable out comes Ask for full microarray screening. Good luck.

@minipie thank you I’m glad all was ok with you again as I said to a previous posted it’s slightly reassuring

Is it really 80% all is ok?

@Embracelife I know the number is very high they said if. It one of these syndromes could be something else maybe to do with the heart I don’t really know what else could be

@Embracelife what’s a full microarray screening

My sister went through this very recently. She was told that there was a high chance baby had Downs. She decided to pay privately for the Harmony test and everything came back fine. Really worth paying for to put your mind at ease.