Pregnancy after genetic/chromosomal loss question: CVS?

[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