Got my babies Genetic results today..

[missmya84]

I got the results from my Pathology testing after my D&C this morning and my baby had Turner's Syndrome. (http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Turner's_syndrome?open) She had only 45 chromosomes instead of 46. The OBs told me 15% of all m/c's are due to this and that there is no increased risk of having another m/c due to this problem. It is just a thing that can happen unfortunately and it can be either be a mistake in the egg or sperm (most commonly the sperm) in production.
He told hubby to take Menevit (which I started him on the other week anyway) to help with sperm quality and told me to continue to taking Elevit. He is happy for us to try again whenever we are feeling ready again.

Has anyone ever had a M/C due to this Syndrome and gone on to have healthy pregnancy?

I am happy that we got a result and glad that its nothing that we did although I am sad to find out it was the little girl I always wanted :( (Turner Syndrome only affects females)

I would love to talk to anyone who knows more about it or had personal experience with this Syndrome.

[Jenga]

I don't have any experience with turners syndrome but didn't want to read & not post. I wish you all the best for your next pregnancy. Hugs!

[BabushkaMumma]

Hello :)

My DD1 had turners..she was one of the ones that didn't miscarry at a younger gestation - she survived until 26 weeks - but that was about as far as she was going to get due to the degree of her abnormalities.

At that age - she had a lot of fluid (hydrops) in her chest cavity which then slowed down and eventually stopped her heart beating.

Well, I was told it was just bad odds, the chances of it happening again to us were quite low - if not nil. as you know - it's quite random and happens at the cellular stages, and while you can't control that, certainly good health in the months leading up will be beneficial regardless.

I went on to give birth to my DD2 a year later and I'm pregnant again with my third and by all accounts on my NT scan, its going well.

Have they recommended you get genetic counseling? I had the option but I didn't take it as I really was confident that the numbers were stacked in my favor for the next pregnancy. However, it may offer peace of mind.

I wish you all the best in the meantime x

[missmya84]

Hello :)

My DD1 had turners..she was one of the ones that didn't miscarry at a younger gestation - she survived until 26 weeks - but that was about as far as she was going to get due to the degree of her abnormalities.

At that age - she had a lot of fluid (hydrops) in her chest cavity which then slowed down and eventually stopped her heart beating.

Well, I was told it was just bad odds, the chances of it happening again to us were quite low - if not nil. as you know - it's quite random and happens at the cellular stages, and while you can't control that, certainly good health in the months leading up will be beneficial regardless.

I went on to give birth to my DD2 a year later and I'm pregnant again with my third and by all accounts on my NT scan, its going well.

Have they recommended you get genetic counseling? I had the option but I didn't take it as I really was confident that the numbers were stacked in my favor for the next pregnancy. However, it may offer peace of mind.

I wish you all the best in the meantime x

Thank you for your post..
No they didn't recommend genetic counseling to me. I am feeling positive and confident but there are days I am not so. I was almost 10 weeks.

26 weeks would have been even more difficult and I'm sorry for your loss. :( Im glad though to know that you went on and had a perfect pregnancy and again now with another healthy one on the way.

Even though they say the odds are in my favor its still nice to hear actual stories so thank you for sharing with me. :) x

[TurnedBatty]

:hugs: I had wondered how it went.

[BabushkaMumma]

Thank you for your post..
No they didn't recommend genetic counseling to me. I am feeling positive and confident but there are days I am not so. I was almost 10 weeks.

26 weeks would have been even more difficult and I'm sorry for your loss. :( Im glad though to know that you went on and had a perfect pregnancy and again now with another healthy one on the way.

Even though they say the odds are in my favor its still nice to hear actual stories so thank you for sharing with me. :) x

Thank you. Having a healthy child next time around was indeed a blessing - for my sanity..I don't know how I would've coped otherwise.

There will be times where the fear will creep back in - and I've always believed that it's important to be aware and address those fears.

I would reassure myself that the last test was fine, my chances are good, etc and it would get me to my next test, then my birth, then taking DD2 home. Then you worry about all the 'normal' things to do with your children...

It does take away the glow of next pregnancies (well it did for me) as I was no longer naive as to what could go wrong - but I still enjoyed them best I could..

I am so sorry for your loss too..xxx

[1girland1boy]

I have a 4 year old lil girl with TS, I was one of the lucky ones only about 5% of girls with TS are born alive :( very sad stats i know. TS is is a genetice defect but is not genetically inherited so even after having a lil girl with TS your chance of another are still the same as eveyone else 1 in 1500. I went on to have another perfeclt healthy sone who is 2. Hugs and good luck with TTC if there are any questions you have i would be happy to help :)

[sweetseven]

I know a lovely lady (in her forties) that has TS and whilst she has a few medical problems, she is living a full and healthy life. Recently married, they are looking into IVF with a donor egg/embryo because she is infertile, which is common for people with TS.

She also has a brother of whom has no medical issues that I know of, so her parents were also able to have a completely healthy pregnancy also.

[missmya84]

I have a 4 year old lil girl with TS, I was one of the lucky ones only about 5% of girls with TS are born alive :( very sad stats i know. TS is is a genetice defect but is not genetically inherited so even after having a lil girl with TS your chance of another are still the same as eveyone else 1 in 1500. I went on to have another perfeclt healthy sone who is 2. Hugs and good luck with TTC if there are any questions you have i would be happy to help :)

Oh thank you for sharing. After a lot of research and comments I'm feeling more confident that everything will be ok. Can I ask, did you find out that your little girl had TS while you were pregnant? Because I heard that the nuchal (12 Week scan) won't pick that up genetic problems but not sure how true that is.

[1girland1boy]

Oh thank you for sharing. After a lot of research and comments I'm feeling more confident that everything will be ok. Can I ask, did you find out that your little girl had TS while you were pregnant? Because I heard that the nuchal (12 Week scan) won't pick that up genetic problems but not sure how true that is.

No we didnt find out what DD had till she was about 8 days old, although i new all through my pregnancy there was something wrong with her :( She also measured small all through my pregnancy was born just under at 38 weeks and only 5p 7oz she didnt have any of the physical features of a baby with TS and thats why it took them a little while to work out what she had. Most of the women i have spoken to that found out there baby had TS before birth were picked up with an abnormal measurement at therte 12 week scan as they had an abnormal amount of fluid around there neck so they then went on to further test and discovered the TS. My DD also had 2 pretty severe heart defects that werent picked up either although at my 20 week scan i had to go back as the sonographer couldnt get a clear picture of her heart valve and so i went back a week later and apparently all was good.
I am really glad i didnt know til after she was born i have been told by many specialists that i would have been advised to terminate and seriously TS is not that bad, my DD is intelectually normal she is small for her age and will prob be infertile but if you saw us walking down the street you would have no idea everything that has happened to her in the past 4 years you would just think she was a normal little girl.
Although i was aprehensive at the begining while pregnant with my DS my DH and I decided that if the 12 weeks tests came back abnormal we would not be testing further as neither of us wanted to make the decision to terminate. at 15 weeks we found out we were having a boy so TS wasnt and issue.
Please try not to worry about it happening again I have done lots and lots of research over the last 4 years spoken to lots of mums with girls who have TS and the only person I have come across with 2 TS miracles was a mum of identical twins everyone else has or gone onto have healthy baby girls :)
My DD abnormal chromasome is different even for a girl who has TS so I had been tested as there was a chance I may have given it to her as if a mother with TS can become pregnant naturally and has a girl the chance is over 90% of her having it as well.

[mousky]

missmya84, I was just wondering how you managed to get a genetic test on your little baby? Did they offer, or did you have to ask?

I BEGGED my OB for one before my D&C, I even offered to pay for it prvately, but they wouldn't budge. No suprises that I wont be using that OB again.

[missmya84]

missmya84, I was just wondering how you managed to get a genetic test on your little baby? Did they offer, or did you have to ask?

I BEGGED my OB for one before my D&C, I even offered to pay for it prvately, but they wouldn't budge. No suprises that I wont be using that OB again.

Oh really :(
I was asked by my obs and he told me the cost as I was happy to pay. Where you seeing a private obs? That's strange they wouldnt when you begged them!! That's not fair!


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[mousky]

It was through the public system, so that probably explains that.
This time its private all the way.