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I had IVF with PGD (to avoid passing on a nasty gene that I knew I had, rather than because of previous losses). The clinic suggested that I have a CVS test to make sure that they had got it right, but I chose not to because the gene wasn't life-threatening, just seriously painful and annoying.
One thing that sticks with me is the counsellor urging me to make sure that whoever did the CVS was someone who had done thousands of them, because then the risk of miscarriage was much lower than what is reported.
I think that in your position I would have the CVS, and make sure that it was done by an absolute expert.
Hi tashy,
I only just found this thread and you know my whole story.
1st of all i will say it is terrible that they can not test for your disorder but even if they could look at my situation the whole thing was a complete stuff up and i still had to wait until 17 weeks to be sure if bub was ok and they had the test available for me and it just didnt go to plan and as you know we took the risk the 1 in 4 scared the hell out of me but what scared me more was living the rest of my life regretting not trying again i tried to look at the odds in my favour and it paid off.
And yes i would not bring a baby into this world with a serious genetic disorder i just dont believe it is fair to subject a child to a life time of suffering no matter how short their life would be so i would end the pregnancy like i did with our sweet Abbi.
I will not be completely happy until i see Ella and know for sure she is ok
I dont want to give birth to another baby that i will never take home but life is so uncertain you just dont know what hand you will be dealt there are women here who have lost babies perfectly healthy babies at full term for no reason so i really dont think any women will relax until they hold a bub safe and sound in their arms a genetic or chromosonal disorder is just one part of worrying about becoming pregnant and you have to look at the positives the odds are on your side.
Like me age is a factor in your choice which makes it harder because you dont have the luxury of time to weigh up all the pros and cons with me i went straight for the pros and worried about the cons once pregnant and dealt with each step as it came.
And i wont say it was easy far from it and would i do it again proberbly not but in saying that i have children already and i am nearly 37 if i were younger and had no kids i would do it again as being a mum is my dream come true.
I hope it all works out for you and you have your dream come true i will be here for you when and if you decide to take the step and get pregnant again i will help you through it and see you come out the other side with a healthy baby.
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Thanks for your replies ladies.
At this stage, we've decided we would not have a CVS unless there was an indication in an NT scan that would warrant it. The thought of losing a healthy bub to miscarriage from the procedure is too much - it's a risk we don't want to take. We've been through enough and we have enough risks to face in future without adding more. Not that I'm thrilled by the NT accuracy anyway. We've been that 1 in 20,000, so the stats don't mean much to me. And we know a couple of very good practitioners who do it all the time, so we know who to go to if we need to.
We've decided to take each day as it comes.
Thanks again
Registered User
Hi Tashy,
We have just lost our son 41+6 born on 23 May due to genetic disease ARPKD (autopsy to confirm in about 6 weeks). I am thinking along your lines now. Do I go through with the genetics process or do I just aim to fall pregnant again and hope that our new bub will be a healthy one this time? Very hard decision and to go through all those tests and CVS etc would be a lot of added stress. I'd rather have a risk-free pregnancy (which of course is impossible), but given my age (nearly 39) I would prefer not to wait for genetics etc. I'm not sure why they can't test for ARPKD via CVS when they can test embryos for it. All a bit confusing.
I think I'm like you, if either chromosomal or genetic disorder was detected early on in pregnancy, we would not continue the pregnancy either.
Registered User
I have just had a CVS on wednesday which confirms my baby has Downs (We had been given a 1 in 11 chance)
If by any chance I have another baby, my thoughts are that I would ask to have a CVS earlier (I believe they can do them from 10 weeks) rather than wait. I was also worried about the chance of miscarraige fromthe CVS but think that the stress that I have have been through wouldn't help the baby either so earlier would mean less stress.
I too am surprised they can't test at the CVS if they can test embryo's, isn't that basically what a CVS is testing the placenta which is as close to the embryo it can get.
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Hi kujbub - sorry I didnt respond earlier. We're going through another round of babyloss hell and I'm not on here much.
I am so sorry for the loss of your son. I understand how devastating that is. Did you know in advance that you baby was affected? You'll still be reeling that this really happened. I hope you have lots of love and support during this time. I found SIDS and Kids very helpful as well as getting grief counselling as a couple.
The reason we could not have a CVS to test for ARPKD in subsequent pregnancies was only because our results were weird. They only found one known mutation in our son, that was not matched back to us. It could have meant it was a spontaneous thing or that it was hidden where they couldnt find it or something else. I do recommend going through the genetic testing. I was frustrated at how long it took, but it did end up being about the right amount of time for our grief and my physical healing (6months). First there's the 6 week wait for the post mortem results, then setting up meetings with geneticists, then getting blood tests and the results being sent OS - in our case a lab in Wales. The first round of testing took about 3 months after the local faffing around, but they needed to redo it due to our weird results. So it took 6 months.
I have online friends who did get a good match - their child's mutations were found and then matched back to them (1 mutation per parent). They were able to have a CVS test for their 2nd child, which also had ARPKD. They terminated at 11-12 weeks and their 3rd child has been confirmed as not being affected. If we had been given that option, we would have preferred it as they are now able to relax more during this pregnancy (though you'll never completely relax again). I know another woman for whom the mutations were not found at all. They are currently 29wks with their subsequent pregnancy and all is looking well so far.
btw - the subsequent pregnancy anxiety whilst still grieving your son is hell, but you can get through it. Sadly, in our case, our second child has developed a completely different condition that we did not even consider. It's not something that can be found on a cvs, so that wasnt relevant to us. Just completely rotten luck that has left us shattered again. Given we still have the risk of ARPKD reoccurring but not having the cvs test available, I dont know what we'll do in future.
ETA - just FYI for others who may ever go through something similar. Our NT scan result came back as 1:6000 for T21, so we chose not to have a CVS. Due to the later issues that came out at the 20wk scan, we had an amnio at 21wks. The FISH results confirmed the baby did not have T21, 13 or 18. We currently dont know why our baby has developed his condition (severe ventriculomegaly/hydrocephalus). Most likely just awful, crap luck. I am currently 37, so that NT result was very good for my age.
Last edited by LionsandBears; June 12th, 2011 at 02:26 PM. : adding info
Registered User
Hi Tashy. Thanks for your reply and I'm sorry to hear you are going through a hard time now after what you've already been through, so I really appreciate you writing to me. 'Hard' doesn't really cut it either, it's pretty much hell feeling like this.
I found out 4 days before my boy was born that he was affected. I went for a routine scan because I didn't want to be induced and so they just wanted to check on our boy. His heart beat was perfect but they found his huge kidneys, small bladder, couldnt' see his stomach and he had a large heart. The four days before he was born was hell. Not being able to sleep and then having to go through the birth. It was a beautiful experience nonetheless and we got to meet our boy and didn't have him whisked away for heroic efforts to try and save him, when we were given the worst possible prognosis. 'We have grave concerns for your baby' they told us. We held him and loved him as much as we could for 20 minutes and he passed very peacefully in my arms. I cannot begin to understand your grief of not having your baby with you when he died.
I have a question re: autopsy. Do they test baby's DNA at autopsy for the mutated genes? I thought this would make sense then it would speed up the process. I mean if they're going to say he died of ARPKD do they need to confirm that via DNA testing in order to make that statement? I'm really anxious about how much time everything is going to take as I'm 39 next month and we feel that somehow the only way to get over this grief is to have our next baby on the way.
Whereabouts in Australia are you? (I'm presuming you are in Oz.) I'm in Perth. I didn't realise testing woudl have to be conducted overseas. They had mentioned at the hospital that we would prob need testing, but they never mentioned anything about overseas labs doing it. I'm going to try my best to speed up the local process where possible, with geneticist appointments etc. and hope we get some good results asap. We are three weeks past our boy's birthdate now, so hopefully it's only another 3 weeks for the p.m. results.
Thanks for chatting and much love to you in these difficult times. I hope your baby's condition doesn't mean the worst outcome and I send you my well-wishes.
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