ttc after baby with genetic abnormalities

I never thought it would happen to me i always read these sites and thought how lucky i was to have three boys but as it turns out here i am my boys were from my 1st marriage and after many years and a nasty divorce i found the love of my life who has a daughter from his 1st marriage we wanted a baby together and at 34 and 36 decided to try right away it took five mths to fall pregnant and we were over the moon until my 12 week scan showed a nuchal fold of 4.8mm and with the blood test were given a 1 in 2 chance for downs syndrome we had a cvs which came back all clear so we relaxed and done up the babys room as we found out i was having my 1st girl we were told to have a scan at 15 to 16 weeks to check growth and the heart this is when they told us our daughter has skeletal dysplasia we then went for a second oppinion at newcastle ultrasound for women they were fantastic and honest and told us everything they could see our daugther diddnt have skeletal dysplasia but had polydactlyl of the hands and one foot and hypoplastic left heart and was small for dates we were then referred to the RNS fetal medicine unit and westmead to be told our baby has no chance of survival and it looks like a rare gentic fault we were told the best thing was to terminate the pregnancy at 19 weeks 5 days it was the worst day of my life and the hardest thing i have ever done i was induced and our daughter abbi christine was born sleeping she was beautiful and perfect in my eyes we wanted answers so agreed to an autopsy which showed that she had major abnormalities from head to toe which gave me some peace that i made the right choice we are still waiting to find out if we are carriers of the same faulty gene or if it was a one off accident so far they havnt found anything we had abbi cremated and brought her home and are about to start trying again but i am terrified it will happen again cause if we are carriers we have a 1 in 4 chance it will happen again they said they can look for some abnormaliteis at 11 to 12 weeks with ultrasound but until they find the gene they cant test for it with cvs or amnio were crossing our fingers it was a 1 off accident :crossfingers:
sandra

Ds15 Ds13 Ds11
:angel:Abbi born sleeping20/3/09 19w5d
:ttc::inlove:

Hi and welcome to BB. I'm so sorry for the loss of your daughter, my heart goes out to you. Three years ago my baby was born sleeping, he had Trisomy 13 which is a chromosone abnormality and had many deformities. I know how scary it is for your TTC again hoping the same thing doesn't happen again. I hope you find the answers you need. There is a private termination group which can offer you great support through this time. Your precious little girl will always remain close to your heart.

Regards,
Dianne

Hi,
I am sorry to have read your story. You have been through a terrible time, especially with the Drs changing their diagnosis all the time. I have not personally dealt with a late loss, but wanted to offer you some support.

Good luck with your journey

Bec

My baby Noah was born sleeping 3 years ago due to abnormalities of his urinary tract, kidneys and lungs... he also had numerous other abnormalities. We also had to terminate him due to this :(

However we never got any answers back from the autopsy and didn't get a chance to see a genetic counsellor as I fell pregnant 3 months after having Noah with our son Harrison who was born beautifully healthy and is now 26 months old.

I am also now pregnant with another baby and the morphology scan shows this baby is fine too.

I guess what I am trying to say is that yes the stress will still be there in the next pregnancy, but the chances of your baby being healthy too could be very high.
Wishing you all the very best... I am very sorry for the loss of your beautiful little angel Abbi.
:hug:

_________________________________________
DS1-15 DD-11 DS2-2
:angel:Noah Thomas - Born an angel Feb 2006 (20w5d)
:angel:Little Wing 2008

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My baby Noah was born sleeping 3 years ago due to abnormalities of his urinary tract, kidneys and lungs... he also had numerous other abnormalities. We also had to terminate him due to this :(

However we never got any answers back from the autopsy and didn't get a chance to see a genetic counsellor as I fell pregnant 3 months after having Noah with our son Harrison who was born beautifully healthy and is now 26 months old.

I am also now pregnant with another baby and the morphology scan shows this baby is fine too.

I guess what I am trying to say is that yes the stress will still be there in the next pregnancy, but the chances of your baby being healthy too could be very high.
Wishing you all the very best... I am very sorry for the loss of your beautiful little angel Abbi.
:hug:

_________________________________________
DS1-15 DD-11 DS2-2
:angel:Noah Thomas - Born an angel Feb 2006 (20w5d)
:angel:Little Wing 2008

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thankyou for giving me some hope that other people have been through the same thing and gone on to have healthy babies thats what im praying for
thanks again sandra:

:

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Hi,
I am sorry to have read your story. You have been through a terrible time, especially with the Drs changing their diagnosis all the time. I have not personally dealt with a late loss, but wanted to offer you some support.

Good luck with your journey

Bec

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thankyou for your kind thoughts and it will be scary and exciting trying to get pregnant again but the odds are in my favour
thanks again sandra

Sandra, I too went on to have a beautiful healthy girl after losing Emmanuel, it can happen and I really pray it happens for you too. All the best hun.

Regards,
Dianne

well i will keep people informed as i go through this ttc journey again hope it dosnt take to long im not a spring chicken just turned 35 and if i get the hang of this replying to threads and blogs and stuff
sandra



Ds15Ds13Ds11
:angel: Abbi born sleeping 20/3/09 19w5d
:ttc:

I am very sorry for what you and your family have been through.

I wanted to let you know there is a volunteer counsellor in Adelaide who you can talk over the phone. She her self has gone through pregnancies similar to yours. Jaylee now has a beautiful healthy boy being told she had a 1 in 4 chance.

You can ring her any time of day she really is a beautiful person to talk to

Jaylee

Ph: 1800 824 240 (Free Call)
Mobile: 0411 225 342

Teddy Love Club

Best of Luck xx

Hi Sandra,
I am so sorry to hear of the loss of your daughter and under such stressful circumstances :hug:. I can very much relate to your story as a very similar thing happened to me. It was my first pg and a high nuchal fold (about 8) was detected at the 12-wk scan. I had a CVS which showed 'mosacism' which means there was 'extra bits' of dna in the genes. I had to have an amnio at 18-wks to confirm this. Some people have this and they are 'normal' but not in my daughters case who also had major heart problems, she was also small for her gestation, about 1.5-2wks behind. She was first diagnosed with hypoplastic left heart, so I know how serious that is, but it turned out to be something slightly different (we saw a fetal cardiac speacialist), but still a major problem with the heart and other areas of her body as well, there was no hope.

Have you and your DH had your chromosomes checked at all? DH and I had our's checked (via a blood test), and they were confirmed all normal, so we were told that this was a 'random event' essentially and that it was very unlikely to happen again. If you haven't, I highly recommend that you do. I also recommend seeing a geneticist, who can potentially give you more information, they will go through your families history etc and may potentially do more tests if possible. Our gentitict did more testing using fluid left over from the amnio. I found seeing the geneticist helpful in giving me more peace about ttc again, which we are at the moment, but it is still in the back of my mind.

I wish you and you DH all the best and hope for a healthy pregnancy soon. Please feel free to PM (private message) me if you have any questions at all.
x

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
:angel:20/3/09 19w5d
:ttc:

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

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.

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.

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.

Thanks Kate. I didn't realise that.

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

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.

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

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.

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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.

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Thanks Kate thats cool the more info for people the better

OK, in that case I definetly saw a genticist at the hospital and it only took me 6-weeks to get in, but we aleady had a lot of info from the tests already done. It doesn't sound like you can expedite your vist to the genticist in anycase Sandra until the autopsy results come in. Hang in there, I know that would be tough. I think you have to remind yourself that there is a very high chance that this was a one off event and not a syndrome one of you carry. All the very best. There is a group of us that chat reguarly in the thread next to this one 'ttc after late loss or still birth'. Please join us in there, the girls are a great support.