ttc after baby with genetic abnormalities

[ferrals5]

Hi berry1

Hubby and i have not been testsed yet we saw a genetic counsilor who said it looks like a one off accident as we have no family history and we have children to previous marriages but after her autopsy they sent off for DNA testing which takes 4-5 mths and sent abbi's autopsy report to the genetic specialist for a preliminary report to see if they think it looks like a syndrome that we could be carriers for then we go on a waiting list to see the specialist and get tested but if they say it dosn't look like a syndrome we wait for the DNA results but in the mean time we have decided to try again as the worst case is a 1 in 4 chance of it happening again and we will go back to the ultrasound lady who found abbi's abnormalities and was the only one who was right and she will go over our next baby with a fine tooth comb at 11week 4days to look for the same problems how long did it take you to see the genetic specialist i would love to see one before we get pregnant for peace of mind


Me35Dh37
Ds15Ds13Ds11
20/3/09 19w5d

[ferrals5]

I dont know how to private message on these sites or do you mean private email

[Berry1]

To private message someone, just click on there name and it brings up a down box, then select 'send a private message. If you look at the top right hand corner of the page you'll see your name and then under that 'private messages' it will say 0 if there is none, but show how many you have if someone has sent you one, you then click on 'private messages' to view them. Hope that helps.

[HotI]

I think you have to have a certain number of posts before you are able to send a PM. Not sure, but i think it around 50 posts.

[Berry1]

Thanks Kate. I didn't realise that.

[ferrals5]

Thanks berry1 for the quick reply
The chromosone testing did take 2 weeks but the final autopsy report will take 4-5 mths and that is also the DNA testing we saw the genetic councilor through the public hospital within 2 weeks but they say the genetic specialist is at least a 6 mth wait and i even asked if we could see a private one so DH and i could be tested now but he said they are all in the public hospitals i no IVF clinics have them we are in a private health fund so i would love to find one that would test us i dont seem to be getting anywhere and i dont think i can private message cause when i click on your name the dropdown box dosn't have send a message maybe because im not a member only a registered user my hubby looked he a computer whiz and he couldnt do it

[Berry1]

I am not sure what the difference is between the genetic councilor and genetic specialist? Perhaps in your situation they need the autopsy results first so they know what they are looking for when testing you and your DH? We had our chromosomes checked while I was pg to see if one of us had mosacism, I think it only took 2-wks at the most to confirm that we didn't. When I saw the genetic councilor with the information he had from Jasmine's tests (pre-autopsy), he got us to have another blood test through the hospital where they were looking for a very rare gene (again all clear). So I am thinking that maybe they need Abbi's result to know what to look for?

Re: the PM thing, Kate just corrected me, I didn't realise you had to have a number of posts to PM someone.

[ferrals5]

Hi berry1
a genetic councilor is the one who explains the whole chromosone gene thing to people and how the testing is done and the results and what they mean the genetic specialist is the one who studies the genes and the disorders and syndromes associated with any faults they are the ones who know if its likely to be a syndrome based on the certain abnormalities that the baby has or if it is so rare it is more likely a on off accident thats what we are waiting for the specialist to look at abbi's autopsy and tell us if it looks like one or the other so then they will want to test us but i think they should just test us anyway just to be sure when i had my cvs and amnio they came back all clear and they said the gene fault mabye so rare or to tiny to see with a microscope they might not find it

[HotI]

A genetic specialist or geneticist is a doctor who has specialised in genetics. A genetic counsellor has studied genetics and counselling but does not have a medical degree.

The geneticist can diagnose genetic conditions. The genetic counsellor can explain genetic diagnoses and the implications of the diagnosis and assist people in making choices that work for them.

[ferrals5]

A genetic specialist or geneticist is a doctor who has specialised in genetics. A genetic counsellor has studied genetics and counselling but does not have a medical degree.

The geneticist can diagnose genetic conditions. The genetic counsellor can explain genetic diagnoses and the implications of the diagnosis and assist people in making choices that work for them.

Thanks Kate thats cool the more info for people the better

[Berry1]

Hi Sandra,

I saw two geneticists. One was part of the Ultra Sound clinic I went to who we saw while we were investigating what was going on. I could get into see him within days, but it was very expensive. It was the that clinic that suggested DH & I have our chromosones checked. I'm not sure if you delivered your baby in a private or public hospital, but if you went public, they should have a genticist there that could see you. My OB said to ask the hospital for a refferal to see one and it took about 6-wks to get an appointment. They asked me for family history over the phone when I made the booking so they could collate all of the info for when I went in (we have no family history of problems either). Also, seeing the genticist this way was free through the public system and I found them very good.

I'm not completely sure what testing your docs are doing on Abbi, but it should only take 2-wks for them to test her chromosomes, that would certainly give your docs a lot of insight into what may have gone wrong, but perhaps they have already done that? It should only take about that long to check your chromosomes as well. Is it the full autopsy that is taking 4-5 months? That is how long they told me it would take for Jasmine's as there is only one hospital in NSW that does them on little bubs. Sorry, I am probably asking too many questions. I am just happy to help someone else going through this, as I haven't come across many people who have been through what I have gone through.

I completely understand why you are your DH want to try straight away. I am sure that chances are this was a really bad one off event. My OB told me that in his 30-yrs of practise he had only seen a case like mine about 4-5 times and had NEVER heard of a couple having it happen a second time, so I really hope that is the case for you as well. Take care.