Downs Syndrome

[Daisybelle]

Hello,

I am pregnant with baby no.2 at 13 and a half weeks. Today i got a call (on a sunday, which i thought was a bit odd) from a midwife who said my blood tests that i had done when i had my dating scan are back and there is a 1 in 75 chance of our baby having DSyndrome. She said i have to go to the hospital tomorrow at 11AM for a discussion/meeting.

Has anyone else had similar? is 1 in 75 pretty high? I literally haven't a clue.

 

[moter98]

There is a new blood test out now that can detect chromosome abnormalities, downs being 99% accurate. I had it done at 12 weeks. It's called Verifi and also others are Harmony, MaterniT21, Panorama. This is a non invasive blood test. I had a soft marker for downs at 20 week scan, and echogenic heart. Since I had Verifi done, I've been assured that this is a weak soft marker for downs and can also be a normal variant. Perhaps request this blood test if you don't want to do amnio. I refused amnio as well.

 

[kit10grl]

In our area anything with a risk greater than 1:150 is considered high risk. 1:151 is low risk. This result is only a risk factor though. So in theory if you were standing in a room with 74 other women out of all of you 1 would have a baby with downs and all the rest wouldnt have it.

There are blood tests that can be done as PP has stated however in the UK you need to pay quite a bit of money for these an an amnio is provided on the NHS. If you didnt want to have an amnio due to the risk of miscarriage it is also possible to wait until much later in your pregnancy when you are past the biggest risks to have it done. I was 34 weeks when mine was done, so sure my baby would have had a good chance of surviving if i had gone into early labour as a result of the amnio. They dont often advertise this openly as you would be allowed to request and end to the pregnancy based on the results which opens up the moral arguements of late term terminations. We knew the outcome would not affect our decision to continue the pregnancy and so were happy to wait.

Another thing to consider is that none of these test can test for every condition and so even if they come back clear for the most common issues its not to say baby wouldnt have another issue they havent checked for. They can lead to a false sense of security sometimes. Your midwife will explain exactly what your results mean for you and discuss all your options regarding further testing at your appointment.

 

[ljo1984]

I was 1:76 with my youngest , the chat just goes through the findings of test and options on further testing etc. I refused cvs and amnio as it didn't make a difference to me if my baby had downs or not. I had a scan at 20 weeks which just looked for soft markers to indicate downs, which there were none picked up. My mw put it this way if I had a 1:76 chance of winning jackpot on lottery do I really think I'd win! Anyway I've not had screening at all this time.

 

[RaspberryK]

If you look at it another way as a percentage 1/75 is a mere 1.33% ... not exactly high risk so really don't worry.
Xx

 

[sammie13s]

I wouldn't worry to much. What the 75 means is if you had that same baby inside you 75 times or basically if you was now carrying 75 babies one of them would be Down syndrome. If that's not something that bothers you then continue happily with your pregnancy. If you think well yes I'd like to no then have the amnio. I was high risk and I had the amnio and it was all clear. Let us no what you decide xx

 

[Mild Mango]

Will your healthcare plan cover a Panorama/MaterniT21/Harmony blood test? Those can tell you with 99% certainty whether your baby has downs or many other genetic conditions. They cost about $100-$300 dollars if they're not covered. However, if you contact the Panorama/MaterniT21/Harmony companies directly, they may be able to tell you where you can get it done at a lower cost, or may be able to refer you to a doctor that will perform the test under your health plan.

Although 1:75 sounds high, there's still a 74:75 chance that your baby is perfectly fine!!! Those are still pretty good odds, if you ask me! But getting a more conclusive test might give you some peace of mind.

Let us know how your discussion with the doctor goes!!!!

 

[Daisybelle]

Mild Mango & Sammie

Today i turned up for the meeting and the dr told me about my options. If i had the CVS test there was a 1/100 chance of miscarriage but could tell me if baby was defo downs syndrome (also tests for lots of other problems too.) If i didn't have the CVS test i could find out at 34 weeks for definite if the baby had downs syndrome.

I knew i would keep the baby even if it does have downs syndrome ... however, i couldn't wait til 34 weeks as i knew i would be thinking about it all day every day (i am a worrier). So I have had the CVS test. They gave it to me today! I know 1/100 chance of miscarriage is high and for the next 48hours (can happen anytime in next 2 weeks but next 48 hours is most likely if it is going to happen) i will be panicking like mad but i couldnt cope with waiting!

I also paid to get results tomorrow instead of waiting 2 weeks so fingers crossed. We'll just be pleased to know either way.

If anyone wants to know what CVS test is like, just ask as I found it hard to find info on the internet about it prior to today.

x x x

 

[Pussy Galore]

Hope it goes well tomorrow...

 

[Yo_Yo]

Good luck with results, don't blame you wanting to get results ASAP.
Sure all will be fine.

 

[Daisybelle]

UPDATE: Yesterday they called me and everything was fine with results and i have felt fine (except a little itchy around the spot the needle went in.)

Still got my HG - which, i know it might sound mad but for once im glad about as i think it tells me baby is still in there and still ok!!

Also woman on phone with results asked if i'd like to know sex of baby, i said yes and it's a boy! so we will have 1 of each.. feel shocked and lucky. But keeping fingers crossed too.

Thanks for all replies

 

[Yo_Yo]

Great news! Congratulations on the baby boy!

 

[jessie1303]

didnt want to read and run, i am awaiting my blood tests back so its very nerve racking i know. i do hope all is ok with ur bubba x

 

[SloanPet77]

I'm glad your testing went well! We are in the same spot however we have a 1:30 chance of downs Were doing the amnio on Thursday. We were offered the panoramic blood test but they made it sound like that was not near as accurate as the amnio so we didnt want to wast anymore time. I am pretty stressed as 1 in 30 is pretty bad. Hoping to find more women who had similar results and the amnio turned out negative for downs.

 

[Meado]

SloanPet, we had a 1:26 risk of downs and opted for the cvs (similar to amino but performed earlier). It all came back normal so I hope this gives you comfort. Good luck.

Daisybelle, great news about your results. I was told that most miscarriages resulting for the cvs happen during the procedure so once it's over and they've checked baby is still ok then the odds of miscarriage dramatically reduce. If it happens after that it is probably due to infection rather than trauma so if you have a temperature call your midwife ASAP.

 

[SloanPet77]

Meado thank you!

I forgot to mention, they scheduled the amnio for this Thursday and I will only be 14 weeks, 3 days? I didn't even know it was possible to do that early, and if so I think it will be super risky? I wish we would have skipped the NT and blood and went right to the CVS but now I am too far along for CVS. The cut-off here is 14 weeks for CVS. ????