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 .
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.
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!
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.
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. to you as it definitely a stressful time waiting for results.
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
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!
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 .
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?
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.
Last edited by LionsandBears; April 6th, 2013 at 07:27 PM.
Registered User
High risk of having ds baby
Re: High risk of having ds baby
to you as it definitely a stressful time waiting for results.
Reply With Quote
Bookmarks