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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

Increased risk of Edwards’, Patau’s & Down’s Syndrome :(

34 replies

RebahSara · 03/08/2018 18:25

Hi All,

Today I received the combined results of an ultrasound scan & blood tests, which tell me that my baby’s risk of having Edwards’ / Patau’s Syndrome is 1 in 10 and Down’s Syndrome is 1 in 17. I am currently 12 weeks pregnant and I am beside myself with worry Sad My CVS test is scheduled for next Wednesday but I honestly don’t know how I will cope with the wait. I am trying to focus on the 90% chance that everything is fine, so the odds are still very much in my favour...however, it is difficult not to be consumed by worry about the 10% chance of Edwards’ / Patau’s and the 6% chance of Down’s. The sonographer confirmed on Wednesday that everything appeared normal & healthy on the ultrasound, although I am aware that many abnormalities are not visible until later in the pregnancy. Moreover, I have been informed that I have low PAPP-A, but was also told that this is not a cause for concern provided that the baby’s growth is monitored. I don’t know what I am hoping to gain from posting here, I guess I just need comfort and reassurance at this time...not easy, I know, since every pregnancy is different! I am sitting here alone with my thoughts and I don’t know where to turn Sad

Thanks & love

Sara x

OP posts:
letsmakeacake · 03/08/2018 18:49

Flowers That's a long time to worry. I don't know if this will help but I wonder if you know anything about these conditions? If you are worried it might be a way of dealing with that. There has been a fair bit of media about Downs Syndrome recently, Sally Phillips made a brilliant documentary about her family - she has a son with Downs. There will be other information out there. It may be the last thing you want to think about but it might help to understand what these conditions actually mean for a family in case you find yourself needing to know.

Stephisaur · 03/08/2018 18:50

I don’t really know what to say Flowers

I’m really sorry you got such worrying news :( all you can do is focus on the positives and look after yourself.

I’ll be thinking of you xx

User12879923378 · 03/08/2018 18:58

Flowers Can you have a Harmony test?

User12879923378 · 03/08/2018 18:59

I know the odds feel terrible but at 1/10 you'd still be very unlucky.

Treacletoots · 03/08/2018 19:01

Second above. Go and have a private blood test and you'll know for sure right away. Can you afford to do that?

Oct18mummy · 03/08/2018 19:01

Look into the harmony test- you may be able to arrange one for this weekend and results in 3/4 days. Put my mind at rest

randomsabreuse · 03/08/2018 19:07

I had an increased risk of Downs (normal ultrasound) and my trust offered a semi - private NIPT test (Serenity) at a reduced rate plus they took the bloods, filled in forms and I just had to send the package off from the post office.

Original poster
RebahSara · 03/08/2018 19:28

Thank you all for your kind words, it’s really encouraging. Unfortunately, I can’t afford a private blood test so have to sit tight and wait for the CVS next week Sad I hope that they will expedite my results and give me some positive news in time for my birthday on 13 August! I am really upset with myself because I stopped smoking over 6 months ago but have succumbed to the temptation to smoke again today, purely because I’m so stressed Sad I feel incredibly guilty but my resolve is weakened right now...however I do not wish to continue smoking for the remainder of the pregnancy! Also I can’t bring myself to eat at the moment, I’m a mess...

OP posts:
Worieddd · 03/08/2018 23:43

Are you in england op? I’m sure after a high risk combined test NHS trusts in England are to provide the NIPT for free before a CVS/amniocentesis. This was from early 2018. Definitely find out from your midwife

FrowningFlamingo · 04/08/2018 06:15

This is totally anecdotal I realise but my friend had low levels of that blood test and the baby was ok and it was that low level that had made all the odds come back as high.
Her baby had none of the syndromes. He did turn out to have a slight problem with his heart but it was a minor one and after a relatively straightforward operation is absolutely fine now.

Faroutbrussel · 04/08/2018 06:29

Op you have a 90% chance that everything will be ok, good luck for your further tests.

Original poster
RebahSara · 04/08/2018 09:28

Thank you everyone, yesterday was rough but I’m feeling more positive today...just trying to keep busy until my test next Wednesday and focus on the likelihood that everything will be fine! It is just so scary because I’m a naturally anxious person and my raging hormones make stressful situations more difficult to deal with right now. The NT was 2.8mm and the sonographer confirmed that the ultrasound looked normal at this stage...I am wondering if perhaps the increased risk is attributable to my age (I am nearly 35) and my low PAPP-A result. My friend said that she knows several women who had an elevated risk in their second pregnancy, predominantly because of the “background” risk associated with their age.
Thank you each & everyone for your kind words of support, they mean a lot to me at this time.

Sara xxx

OP posts:
Bowlofbabelfish · 04/08/2018 09:35

They should be giving you a NIPT test before a CVS surely?

The charity ARC have a great website - have a look at that, and ask your MW about nipt.

Patienceofatoddler · 04/08/2018 10:09

Wishing you the best of luck.

My screening results were considerably higher this time round (3rd baby and 4 years since my first- I'm 31) - Age does have an impact Sad

I also came back with low PAPP A - this means increased risk of placenta abruption / small baby. I've been started on aspirin - seen my constant and got extra growth scans booked in for later in pregnancy.

Wishing you the best of luck - certainly the PAPP A isn't something to worry about at this stage and hopefully once you meet your consultant they can answer a questions and explains what it means in terms of additional monitoring.

I know it's easy to say but try not to worry.

brodiee · 04/08/2018 19:30

Hi sara @RebahSara - sending you hugs. I know how you must be feeling. I had 1 in 8 risk of Down's syndrome with my son and I also had a CVS.

The CVS revealed that he had no chromosomal abnormalities and he is now a cheeky nearly 2 year old.

The procedure itself is nowhere near as bad as you imagine it to be and the staff will take great care of you. Hopefully they'll try and get the results back to you asap. I think I got mine in less than a week.

Try to stay positive although I know myself that it's easier said than done! I felt like I really started to disassociate myself from the pregnancy and once we knew all was fine we opted to find out the sex. They can tell u this with cvs result. This really helped me re-bond with the baby.

Will be thinking of you. Xxxx

Sandstormbrewing · 04/08/2018 20:58

Bowlofbabelfish not all trusts offer NIPT or have the ability to do it - mine doesn't. OP would have to go private if she wanted it. And that would then be more waiting.

brodiee · 08/08/2018 13:19

Thinking of u today @RebahSara xxxx

Original poster
RebahSara · 08/08/2018 13:36

Thank you @brodiee, I am really touched by the fact that you remembered me today...it has been a difficult few days and I have been an emotional wreck this morning, but your message really warmed my heart! I am heading to the hospital shortly and will keep you posted...

Thanks & love,

Sara xxx

OP posts:
brodiee · 08/08/2018 13:56

You can do this, and it will be over before you know it. Take care of yourself and rest afterwards. Lots of love xxxx

Original poster
RebahSara · 09/08/2018 15:17

@brodiee, do you remember how long it took for you to receive the test results? I am overthinking things today and starting to worry that if it takes a while, then I should expect bad news...although presumably it takes the same amount of time for a negative result as a positive result! I’m so anxious today and am therefore finding new things to worry about Sad

Thanks again xxx

OP posts:
Glowbug59 · 09/08/2018 15:21

Waiting is the worst, good luck Flowers

Original poster
RebahSara · 09/08/2018 16:11

Thank you so much Smile

OP posts:
Oysterbabe · 09/08/2018 18:10

Crossing my fingers for you Flowers

Original poster
RebahSara · 09/08/2018 18:58

Thank you xxx

OP posts:
Kaznet · 09/08/2018 19:59

I'll be thinking of you and hoping for a happy result 💐