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We have just found out with have a 1 in 24 chance of our baby having a chromosomal abnormality . Naturally we are devestated , having cvs in 2 days , but have already decided to go ahead regardless . This baby is already our littlle miracle and this will not change that . Anyone out there , in the same situation or have been in the past , we would love to hear from you .
I haven't been in that situation but wanted to offer you sone *hugs* and wishing you all the best for your cvs.
Big hugs. Take it one day at a time and see what the CVS test says xo
We were given a 1 in 57 chance of having a baby with Down Syndrome at our 19 week scan. At that point we declined the amnio as we would have continued with the pregnancy regardless. We were given extra monitoring and more frequent scans. A health issue at 28 weeks meant we ended up having the amnio and the FISH results showed that there was an extra chromosome and the full karaotype the week after confirmed that our DD had Down Syndrome.
If you able to, I would opt for the FISH results as they come back within 48 hours although I think they are not as reliable as the full results but it will give you an indication.
Go easy on yourself and let yourself feel how you want to feel. There is no right way or wrong way to deal with this.
And remember that you may be the one or you may be the other 23.
Our DD is now 4 weeks old and is beautiful and perfect and very much loved. Regardless of that extra chromosome.
Seven years ago we were in the same position, Emmanuel had a chromosome abnormality it was such devastating news. Sending you lots of strength and wishing you all the best with your cvs results.
Regards,
Dianne
Yes I had cvs testing at 11 weeks as high nuchal fluid though bubs didn't end up with any issues. I know it is extremely scary. Even after the cvs we had lots of extra scans and monitoring so just be prepared for this!
It's important to remember that the nuchal scan etc is only a screening test and does not predict anything. I had a CVS at 13 weeks, with the Fish test & our results came back chromosomally normal. I was lucky to have a genetic counsellor at the hospital where they did the test & it was really valuable to have someone there to explain it all, so if you have access to a service like that, then definitely use it. :hug: to you as it definitely a stressful time waiting for results.
Our 12 week scan for DD came back 1 in 20 chromosomal abnormality. Combined with the blood test result it actually increased to 1 in 10. Then our sonographer and obs reviewed the results and our obs told us that in her experience, results like ours are bad news - she gave us a 1 in 10 chance that we would make it to term, and if we did, baby would not live long after birth.
We were heartbroken. Devastated. We cried. We screamed. We cried more. I slept a lot. And then we asked "What now?"
We did cvs with the FISH results - fast results, 48 hours. First results - all clear. Waited for the full results - all clear. We had another scan at 16 weeks - all clear. Had a final scan at 20 weeks - all clear.
No one could believe it.
So it's not always bad.
Go gently. Stay away from google. Hug your partner. Talk to your care provider. Talk to people who might understand.... Shield yourself from those who won't.
:comfort:
With DD2 we were given a 1:59 chance of DS after the 12 week scan. We opted for an amino and luckily for us everything was fine (although we did have other issues throughout the pregnancy). Good luck! I know how stressful it is. Oh, and I agree with a previous poster, ask for the FISH test if you can - I got my results in less than 24 hours!
We had similar odds that you've got too. We had Cvs at 12 1/2 weeks and were prepared for bad news but the place we went the scan and cvs were performed by a very experienced associate professor obstetrician/ gynecologist who could see bubs formation was normal on the scan. This gave us some hope. It was a terrifying experience to go through with the thought we could loose our baby. We paid extra for the FISH test which checks trisomy 13, 18,and 21(down syndrome)and confirms gender and got results in 24 hours. Tomorrow is the 1 year anniversary of having the cvs and there will be tears.
However... DD turns 6 months next week and she is a happy, healthy smiley wonderful girl. So like OP, it turned out all good for us. Sending bug gentle hugs.
We had a 1:19 chance of D's with our first and a similar reading for trisomy 18. We did the CVS and everything was fine. It was and still sometimes is such an emotional time. You need to do what's right for you and your dh and your situation. It really questions certain things in your life.
The procedure was a little uncomfortable but afterwards it felt as though I had done way too many sit ups. Take some time to rest after.
Definately recommend the fish test, just to let you know what's going on quicker.
All the best. Will be thinking of you. Please let us know how it all goes x
Sending you BIG :grouphug:
We were in a similar situation in December last year at our 12 week ultrasound and give a 1:3 chance of downs, we went ahead and did the CVS then and there and also paid extra for FISH. 48 hours later it was confirmed that our baby girl had turners syndrome.
Good luck, most people have the test and the results come back all clear....I truely hope that you are one of them!
xx
Thankyou so much for all your hugs and well wishes . We have both our mums support so far to continue with the pregnancy and we are committed to giving our baby the best life possible regardless of results . We know things will be tough , especially due to my health and our financial situation , but we will get thru this . We hope we get good results but if it is bad news we will get thru this . We will let you guys know how we go and fingers crossed . Xx
After seeing our gp this morning and discuussing it with family we have decided. Not to have testing , due To miscarriage risk . The results would not change Our decision to keep the baby . So we will just have to wait and see . We think we are making the right decision for us and our family .
Hugs. Its a tough thing to hear at your scan.
DS3 was found to have 2 soft markers for DS at his 20 week scan, and was therefore at an increased risk of DS. We declined the Amnio because we would have loved our baby regardless and tbh the risk of stillbirth was unacceptable to me given my past history. So we waited, and for 4.5 months, we tried to prepare ourselves as best as we could. Subsequent scans showed the markers had resolved themselves, but this did not alter my risk level. DS3 was born without DS or health problems.
I wish you all the best.
thanks diamond , we are prepared for what ever happens . i just couldn't take the risk of losing my beautifulbub.
Good luck Becky.
My friend had 12 week scan and got all clear. At birth she looked at her boy an said is he ok? After testing he has downs
He is now almost 3 and brings her so much joy.
The world is changing and is more accepting of DS children allowing them to live their full potential.
She has challenges and the little boy has had many health problems but he is now very healthy and happy.
She is with a lot of foundations and groups if you want pm me and I can get her to contact you?
My friend had 12 week scan and got all clear. At birth she looked at her boy an said is he ok? After testing he has downs
He is now almost 3 and brings her so much joy.
The world is changing and is more accepting of DS children allowing them to live their full potential.
She has challenges and the little boy has had many health problems but he is now very healthy and happy.
She is with a lot of foundations and groups if you want pm me and I can get her to contact you?
Have you been referred to a maternal fetal medicine obstetrician? One thing I would recommend is seeing a MFM doc and requesting more frequent monitoring, and in particular an echo cardiogram scan, as babies with Down Syndrome can have a heart defect.:
If you'd like to know anything more about Down Syndrome or the waiting game, pm me.
Thanks sammy , i am already being monitored closely due to ongoing health issues , but without having an positive result of ds , not sure what they will do . Would be great to talk to someone who has a ds chiild , just to prepare us for the road ahead our jellybean has ds . We will love it regardless . I used to work as nurse before getting ill , so at least we have knowledge and i have health care skills . Unfortunately i am no longer able to work and hubby injured himself and developed an infection in his ankle prior to falling pregnant and is still unable to work , so financial strain will be a big concern . I have decided to rely on my jewellery making and handmade candles to bring in some income .:
Thanks duchess , that would be awesome to have someone to talk to about the posssible challenge ahead:
I can't figure out how to send you a private message but I got an email address for my friend who I think actually didn't do 12 week scan.
Anyway she is very happy to talk to you and help you prepare for what may be ahead, she was thrown in the deep end but can tell you the things she proved DS kids can still do.
If you want to be sure without risking miscarriage via a cvs/amnio, you can get the blood test instead. I think there are 2 commercial brands available - MaterniT21 Plus and Harmony. They have a 99% accuracy for detection of trisomies 21, 18 & 13. It's extremely expensive - about $1500 - 2000. However, it's a good option instead of amnio for those conditions.
I also agree with talking to a genetic counsellor. You should be able to get a referral through your GP or OB.
ETA - apparently there is also another brand called verifi and it is $1250.
Lions and Bears - Is this testing only new? This wasnt told to me 4 years ago when we were told we needed cvs testing. Do you know how accurate it is?
It became commercially available in Australia at the end of 2012. Accuracy is 99% for trisomy 21.
Hi girls, just popping in here cos my best friend and her husband found out today their twins have a 1:20 and 1:200 chance of ds. Very desperately longed for ivf babies and I am devastated for them. Hoping that they have a good outcome. Nice to hear all of your stories.
Becky I notice you are due this month, I will be stalking to hear how your baby is.
Bella29, being told that you are high risk for having a baby with DS is devastating at the time. But I'm sat here with my 7month old beautiful girl and she is wonderful. There is a lot of outdated knowledge about having a child with Down Syndrome so I get where people get the idea that is the worst thing possible. But that couldn't be farther from the truth. If your friend wants to chat with someone who has been there, I am more than happy to. Also, the best thing my best friend said to me was that everything is going to be ok and that our dd would be perfect even with the extra chromosome.
They just got the initial amnio report back today. Everything is normal for the trisomy's and spinabifida. We are so relieved. We were actually there when they got the news. So it was a massive relief!!! They have to wait for the full info that will be given them in a couple of weeks. But yeah! Over the moon. Thanks to everyone for all their support and information!