Pregnancy after genetic/chromosomal loss question: CVS?

[LionsandBears]

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.

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.

[kujbub]

Did you know in advance that you baby was affected?

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.
.

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.

[ferrals5]

Kelly W-they can only test in a CVS or AMNIO for common chromasonal disorders or genetic disorders if you have had your gene fault isolated beforehand so they know what they are looking for with Abbi i had a CVS and an AMNIO which both came back all clear it wasnt until we had her autopsy and DNA tested with mine and DH tested also that they found our bad gene only then can they test future pregnancies for the same disorder because there is over 50000 genes and each one can have different mutations it would take forever to look at them all as it was it took months for them to find our gene fault and they were pretty sure they new what Abbi had but to test all 3 of us DNA takes time with us it was 7-8 months all up only then could we test for it.

I also went through the fetal medicine unit and they will not do a cvs before 11 weeks where in america they will do it at 9 weeks i tried to push for it earlier as the 10 day wait would put me over 12 weeks i wanted to terminate early if i had to but as it was they scanned me to make sure i was at least measuring 11 weeks i hope they change it in the future but they did have trouble getting to my placenta at 11 weeks as it was so small.

Kujbub-If they suspect a disorder they will get you to sign a consent for an autopsy and genetic testing then they send it to SA lab where they do all the genetic testing as far as i know then the results will be sent to your genetic councillor and they only test over sea's if they dont have the facilities to test here or if they dont have anything to compare it to they had to get from england a special test for our disorder to make our probe so they could test future babies so that was an additional wait.
And we decided once our test was complete to do PGD ivf which resulted in effected embryos so the next time the embryo's were not tested and we just crossed fingers and waited for cvs and amnio results and our 12 weeks old healthy daughter is asleep upstairs in bed.

Tash-you know i am here i have replied to your PM i hope you got them.

[kujbub]

Kujbub-If they suspect a disorder they will get you to sign a consent for an autopsy and genetic testing then they send it to SA lab where they do all the genetic testing as far as i know then the results will be sent to your genetic councillor and they only test over sea's if they dont have the facilities to test here or if they dont have anything to compare it to they had to get from england a special test for our disorder to make our probe so they could test future babies so that was an additional wait.

Hi ferllas5,
Just wondering if you know the name of the lab in SA? When I spoke to the geneticist in Perth yesterday she said she wasn't even sure if testing was available. I told her there was a lab in Wales and they can test for ARPKD. She said they would be emailing labs to find out who does the testing. If it's done in SA and they now have the probe from your testing, I dont see why my genetics couldn't be tested there either.
Thanks for your help. This seems such a long road ahead and at 39 next month, I want to hurry things along as much as possible.

[LionsandBears]

Hi ferllas5,
Just wondering if you know the name of the lab in SA? When I spoke to the geneticist in Perth yesterday she said she wasn't even sure if testing was available. I told her there was a lab in Wales and they can test for ARPKD. She said they would be emailing labs to find out who does the testing. If it's done in SA and they now have the probe from your testing, I dont see why my genetics couldn't be tested there either.
Thanks for your help. This seems such a long road ahead and at 39 next month, I want to hurry things along as much as possible.

There are 5-6 labs in the world that test for ARPKD, none of them in Australia. The RWH, Melbourne sends their samples to Wales, I think Sydney sends it to Germany.

Ferrals has explained the difficulty with testing well. It's very hard to find an individual gene. I think the gene for ARPKD was found in 2002. Each chromosome has thousands of genes. Isolating which gene causes which problem is very difficult. Finding the gene is one thing, finding the mutations on the gene is something else.

It was explained to me thus: imagine there's a line of text on the road between Melbourne and Sydney. The geneticist are looking for 2 spelling mistakes in that line of text. They need to find those mistakes in the baby's DNA, then trace each back to the parents - one from mum, one from dad. In our case, they found 1 mutation or spelling mistake in DS. At first they could not find it in either of us. They later identified it was on the paternal allele but still wasn't found in DH's DNA, meaning it may have been spontaneous. They did not find a known mutation from me, though they did find something that may be a signpost in both DS and my DNA.

If you have a contact, I suggest you ask that she organise the following to save time:

• That you have a meeting with a geneticist and genetic counsellor the same day as the pathology report. That way you dont have to keep coming back. If they dont think it's ARPKD, can they please review this before these meetings. Make sure the genetic counsellor is in the meeting to interpret science into English. The first geneticist we met had the compassion of a rock. We've found our counsellor to be invaluable.
• That they identify the lab they can send the DNA to before this meeting.
• That they confirm with the lab that they want a sample of the parent's DNA at the same time as they receive the baby's DNA. The lab in Wales wants all samples at the same time - this will save time.
• That they find out if testing can be publicly funded or do you need to pay or contribute - genetic testing depends on public funds. We were told it would be $2-3k but in the end we didnt need to pay.
• That you both have you blood taken at the hospital path lab the same day as the meetings.
• That communication be via email or phone, not by snail mail.
• That you be kept informed of all the steps taken.

None of this was organised properly when we got our results. So we waited 6 weeks to the port-mortem result meeting. We were then referred to the genetics service. I think it was another 3 weeks before the meeting with genetics. They did not know at the time who'd be doing the testing, so we went away while they worked that out, then oops, the lab does want our DNA after all so they mailed us a path slip to get blood taken. Then the samples were couriered to UK and then we waited for the results.

You and your DH should also have a renal ultrasound to rule out ADPKD. You can get a referral from your GP.

I was 36 at the time and did not understand why they were wasting my time, but they're public service, they dont think efficiently. Mind you, this time, they've been completely on the ball.

I hope that helps. I'm not going to be around much the next few weeks. You can also find support at the FB group ARPKD Angels.

[ferrals5]

What tashy said is true they might not be able to test for some things here i know part of my test was from England.

And tashy is correct in saying make sure they get everything organised at the same time so there is no going back and forth then less waiting.
We were told of a few possibilities before we lost Abbi and then when the autopsy was done it was narrowed down to 2 possiblities (one genetic and the other a freak one off mistake )based on all her abnormalities so i guess we were lucky they that knew where to start looking they knew which genes are involved so it ended up being smith lemli opitz syndrome.
We had Abbi in march and didnt get the final results until the 1st of june (i will always remember that day) then we had to wait for a test to be developed to be able to find it in our embryos and that wasnt ready until the october we had all our bloodwork done the day we got the autopsy result (1st of june) and it was sent to be matched to Abbi's liver sample in SA and looked at to find the mutations in DH and myself which they were found so we new we were both carriers and the reason our daughter was affected so we had our answer.
As SLO is rare in australia we didnt have to pay a cent for any testing or even all the testing with ella's pregnancy.

All i will say is i rang constantly and was on their case all the time pushing and pushing to get answers as quick as possible as age was against me also i was 35 at the time and they dont rush so make sure you badger them to get what you want otherwise they take their time.

Tash-did you have your scan today hun any news

[HotI]

kujbub, genetests.org will show you the labs that test for different conditions/genes. However, some labs will do more detailed testing (and you only find this out by finding out their testing protocol) so the genetics clinic should follow up that side of things for you. Hopefully you can get in to see a geneticist/genetic counsellor soon and start getting some answers.

take care