Increased risk for Trisomy 18 or 13

[Blonde_uk]

Last week I had the first trimester screening done. Scan looked perfect, NT normal, nasal bone present and measuring correctly.
Once the blood results came back I was moved to a 1 in 98 chance of having trisomy 18 or 13 as my bHcG and Papp A were both abnormally low. 1 in 98 still only means a less than 2% chance but I'm a mess. This is my first pregnancy conceived via IVF and i just don't know what to do or how to feel.

Today I have had the verifi non-invasive screening done even though that is still only a screening test. I would have to wait a couple of weeks for the amnio and to be honest I just needed to feel like I was doing something. The results will take 7 to 10 days so I need to try and not focus on this as it will make me ill.

I'd love to hear if anyone is going through this right now or has gone through this as I feel so alone. I have a few pregnant friends right now who got pregnant so easily and now everything is going so well for them I just don't feel I can relate.

Thanks so much for reading!

 

[bumblebeettc1]

Last week I had the first trimester screening done. Scan looked perfect, NT normal, nasal bone present and measuring correctly.
Once the blood results came back I was moved to a 1 in 98 chance of having trisomy 18 or 13 as my bHcG and Papp A were both abnormally low. 1 in 98 still only means a less than 2% chance but I'm a mess. This is my first pregnancy conceived via IVF and i just don't know what to do or how to feel.

Today I have had the verifi non-invasive screening done even though that is still only a screening test. I would have to wait a couple of weeks for the amnio and to be honest I just needed to feel like I was doing something. The results will take 7 to 10 days so I need to try and not focus on this as it will make me ill.

I'd love to hear if anyone is going through this right now or has gone through this as I feel so alone. I have a few pregnant friends right now who got pregnant so easily and now everything is going so well for them I just don't feel I can relate.

Thanks so much for reading!

I'm sorry you're going through such a difficult time.

I've just had a cvs to test for Edwards, Patau's, Down syndrome and turners. I had to wait 3 days for results & it was the longest time of my life. Thankfully it was clear & I'm now waiting 10 days for the full chromosomal results.

My baby has a cystic hygroma which is why they did the test.

I hope you're doing ok & the wait isn't too agonising. X

 

[Blonde_uk]

Thanks for your reply and that's good news your cvs looks ok! It is such a horrible shock to hear and then the waiting is just awful. I'm just praying this verifi blood result comes back ok and then I can just see what the 20 week scan holds. Will you be having another scan once you've the full cvs results to check on the baby? You know so many people who have perfect babies and perfect pregnancies, I guess you just never think this will happen to you but unfortunately these things do!

Keep me posted on your progress x

 

[bumblebeettc1]

Thanks for your reply and that's good news your cvs looks ok! It is such a horrible shock to hear and then the waiting is just awful. I'm just praying this verifi blood result comes back ok and then I can just see what the 20 week scan holds. Will you be having another scan once you've the full cvs results to check on the baby? You know so many people who have perfect babies and perfect pregnancies, I guess you just never think this will happen to you but unfortunately these things do!

Keep me posted on your progress x

I have another scan a week today to see if the hygroma has changed/improved. Unfortunately there's still a chance the pregnancy won't be able to continue if the hygroma is worse. I'm 14 weeks now.

Will they not scan you again before 20 weeks?

X

 

[lizlemon]

Hi, firstly sorry you are going through this. I have been through this twice. Once with my first baby, that unfortunately I lost to pataus T13 ( my IVF baby but I was reassured that it was NOTHING to do with IVF just a random occurrence) her 12w scan was difficult as she was curled up and would not move to allow measurements to be taken, the bloods did not suggest anything - mainly because only downs is tested for at my nhs hospital. For my second baby I had a high level scan at 12 weeks that looked for classic markers for pataus and Edwards ( clenched hands and spade shaped feet) all was ok with my now 2 year old. I am now pregnant and have just gone through the trauma again. 12 week scan looked perfect but bloods suggested high risk for downs 1:28. We did the harmony test and got the results back today. No trisomies detected. The hardest 2 weeks. I would hold on to the fact that your scan looked good. Not sure where you live but you could always pay for a more in depth scan to look over baby - for last 2 pregnancies I have had a 40min scan at Kings London at 12 weeks and I know in Harley street (where I had the harmony test done they do high level scans by specialist that see babies with problems regularly so know what to look for) xxxx

 

[Blonde_uk]

I really hope it has improved by next week for you as I'm sure this wait is just killing you too. You just feel so low and helpless waiting.

Once these blood results come back depending on those will determine when they scan me again I guess. As my 12 week looked ok and from what I understand if the baby were to have Edwards or Pataus any abnormalities would be seen later so it might not be worth scanning now unless I go for the amnio. I'm 14 weeks too so if these blood results also show high risk then amnio would be the next stage.

We are in such a horrible situation with the waiting and imagining, it takes over your thoughts and life!

I hope this week goes fast for you!

Hugs x

 

[Blonde_uk]

Hi, firstly sorry you are going through this. I have been through this twice. Once with my first baby, that unfortunately I lost to pataus T13 ( my IVF baby but I was reassured that it was NOTHING to do with IVF just a random occurrence) her 12w scan was difficult as she was curled up and would not move to allow measurements to be taken, the bloods did not suggest anything - mainly because only downs is tested for at my nhs hospital. For my second baby I had a high level scan at 12 weeks that looked for classic markers for pataus and Edwards ( clenched hands and spade shaped feet) all was ok with my now 2 year old. I am now pregnant and have just gone through the trauma again. 12 week scan looked perfect but bloods suggested high risk for downs 1:28. We did the harmony test and got the results back today. No trisomies detected. The hardest 2 weeks. I would hold on to the fact that your scan looked good. Not sure where you live but you could always pay for a more in depth scan to look over baby - for last 2 pregnancies I have had a 40min scan at Kings London at 12 weeks and I know in Harley street (where I had the harmony test done they do high level scans by specialist that see babies with problems regularly so know what to look for) xxxx

Hi Lizlemon,
Firstly sorry for you loss. I can only imagine what you went through but so glad you then went on to have a healthy baby. I've also been told its nothing to do with the IVF process and just bad luck. That is so horrible you've had to endure it all again. I've never felt so anxious and worried in my life so I'm sure you felt terrible especially after your loss! I am also reassured and happy for you that your harmony test has come back as no trisomies! I'm actually living in the USA at the moment which is why they tested for 18 and 12 alongside downs syndrome. I saw a genetic counselor today who ordered the blood test (the same as harmony just a different company) and she said the next scan would be detailed as I'm at a large teaching hospital so I'm also taking comfort in the fact that if these blood results come back ok I will be getting a detailed scan too. I've just got a long 7-10 days of waiting and hoping, but I will take comfort that the 12 week scan was perfect. Xx

 

[lizlemon]

They can see the hands and feet at 12 weeks as that's what they looked for at my scan so they would have looked for it at your scan as it's very distinctive. Also when I researched hormone levels and found that a lot of the levels that are normal overlap with T13 and T18 so I hope you will get the news like us that is was just bloods and that your baby is ok like the scan suggested xxx

 

[Garnet]

I just want to let you know my son was 1-10 for T18. He did have it! Your number is 1-98 so I am sure that you have an excellect chance that your baby is fine! If the number was under 20 then I would be worried! I am sure it is a false positive!

 

[Blonde_uk]

Hi Garnet,

Sorry to hear that happened to you it is a devastating thing to happen! As you say I have a 1 in 98 chance which is still pretty good odds and I need to remain positive as not eating properly or sleeping is not going to do the baby any good whether they have it or not. It is hard waiting and wondering as I'm sure you went through.
If you don't mind me asking, did your odds come from the first trimester screen?

Thanks so much for replying, it means a lot

 

[Garnet]

Yes I was 43 so we have NT and the odds were 1-10 at 12 weeks! We waited to 16 weeks to do amnio and advanced ultrasound! He did have clenched hands and his brains did not develop so we had to terminate at 17.5 weeks! I have been on these boards along time and I have never heard of any one with high number like yours ever come up with a positve for either Trisomy or Downs! Their babies were fine and the and the test just put them under so much stress! Like I said if it was anything like 1-20 or under I would worry!

 

[lizlemon]

Sending you a big hug garnet from one T13 mummy to another xxx

 

[lizlemon]

Blondie the wait is killing, try to look on the positives - we would say if you had cancer and they said 98% survival rates you would be very positive - medical people just go on statistics and show them the way they want to. I hope you have family around to support you through this cxx

 

[bumblebeettc1]

I really hope it has improved by next week for you as I'm sure this wait is just killing you too. You just feel so low and helpless waiting.

Once these blood results come back depending on those will determine when they scan me again I guess. As my 12 week looked ok and from what I understand if the baby were to have Edwards or Pataus any abnormalities would be seen later so it might not be worth scanning now unless I go for the amnio. I'm 14 weeks too so if these blood results also show high risk then amnio would be the next stage.

We are in such a horrible situation with the waiting and imagining, it takes over your thoughts and life!

I hope this week goes fast for you!

Hugs x

I hope the time goes fast for you too.

It's nice to see so many other ladies offering you their valuable advice too.

X

 

[Blonde_uk]

Hi all,

Thanks so much for your support and reassurance! I'm feeling a bit calmer today and trying to focus on the positives, the odds aren't that bad so fingers crossed it all goes in my favour. It's still on my mind 24/7 and I'm sure it will be over the next few weeks while I'm waiting for the blood results to be back.

I'll keep you updated on the progress!

Thanks so much and wish you well on your journeys xx

 

[Blonde_uk]

Hi all,

Nothing to report here as I am still waiting for the verifi blood test results. I am hoping it will come this week as I'm not able to concentrate on anything. It has certainly been a very long week since I first posted!

Bumblebeettc1 I hope you've got your results from the cvs test and you've had a scan. I hope things are looking more positive for you!

I will update once I get my blood results as I know it will really help anyone else going through this in the future as either way you want to know the outcome.

 

[lizlemon]

Hang in there! Xxx

 

[bumblebeettc1]

Hi all,

Nothing to report here as I am still waiting for the verifi blood test results. I am hoping it will come this week as I'm not able to concentrate on anything. It has certainly been a very long week since I first posted!

Bumblebeettc1 I hope you've got your results from the cvs test and you've had a scan. I hope things are looking more positive for you!

I will update once I get my blood results as I know it will really help anyone else going through this in the future as either way you want to know the outcome.

Time seems to stand still doesn't it!!

Still waiting for my final CVS results (I've been told it'll be tomorrow). Had scan today & hygroma still there.

It's smaller but doctor didn't seem to point this out as positive - that was my own take on it as I'm clutching at straws!

Back in 2 weeks for another scan.

I still haven't told anyone apart from family so trying to hide my tummy is getting harder.

Hope you're doing ok. Xx

 

[wildflower79]

Hi, I lost my little girl to t18. I know how awful it is waiting for results.

Sending you and really hoping you get some good news soon x

 

[Blonde_uk]

Hi wildflower79 so sorry about your loss it is such a heartbreaking syndrome. Some days I'm positive things will be ok, others I'm not at all.

I hope you get the cvs results tomorrow bumblebeettc1! I would also take the fact that it is smaller as a positive but I guess it is just too early for the doctor to say yes or no and they are definitely cautious until they are certain which is so hard. It really is like time has stood still!

I had to tell quite a few people as I was very sick in the beginning so it was pretty obvious so potentially having to tell them the baby has T18/13 is also stressing me out to be honest. My bump is getting bigger and I just imagined this time to be so great but instead i'm trying to hide it as I'm scared it'll all go.

Keep strong! Xx