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  #37 (permalink)  
Old March 18th, 2009, 05:38 PM
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Originally Posted by briggsy's girl View Post
FWIW - DH's family member with problems has Fragile X syndrome - it's not life threatening, it's not insurmountable - the child is big for it's size and a little emotionally and mentally slow. definitely not something i deem worthy of termination! i guess this was part of my reasoning with DH - needed him to know that things weren't unable to be overcome...
DH could have genetic testing to see if he has inherited the Fragile X. If he hasn't inherited it, he can't pass it on to your kids.

You probably know this, but fragile X syndrome is caused by a 'dynamic' or expanding mutation. A segment of the gene expands between generations and if it gets too big, then the baby can have issues. It is only when the Mum has a semi-expanded gene and passes it on that the gene may expand further and the child may be affected. If Dad has a semi-expanded gene, the same size gene will be passed on to the child. So even if your DH has inherited the family fragile X gene, his kids will only inherit the same sized gene.
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  #38 (permalink)  
Old March 18th, 2009, 05:48 PM
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DP and I chose to have the NT scan because we wanted to see bubs and hear the heartbeat but also because this is our first pregnancy and we wanted to do all the "right" things - I am not saying that having it is the right thing but we both felt pressure to have the test... pressure from society, family etc. In the end it was our choice and we did decide to have the test... we both acknowledge that we chose it.

At the time of the scan (11th March) we weren't sure what we would do if we had a high risk - we had talked about it but had no real conclusions even on the day of the scan. We are considered low risk - so we will likely never know what we would have done if the results were different.

As I said this is our first bub and we have thought about whether we would have the test for any subsequent pregnancies but am not sure and we both agree we will cross that bridge if we get to it.
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  #39 (permalink)  
Old March 18th, 2009, 08:07 PM
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It is most definitely a personal choice.

Fragile X - I've never heard of it. Sounds extraordinary.
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Old March 18th, 2009, 11:28 PM
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Fragile X - I've never heard of it. Sounds extraordinary.
It's called Fragile X Syndrome because when they look at the X chromosome under the microscope, one of the 'arms' of the chromosome has a dangly bit at the end-like it's going to fall off.
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  #41 (permalink)  
Old March 19th, 2009, 07:38 PM
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Thanks Kate.

The weird things chromosomes do!!
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  #42 (permalink)  
Old May 5th, 2009, 06:38 PM
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i had a dating scan at 6 weeks so i am wanting to see lil beany again as im getting very paraniod so i will ask the dr for a normal u/s just to check but if he wont give me that i will get the NT one done
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Old May 22nd, 2009, 09:55 AM
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If you would not terminate anyway then i would see little point EXCEPT to have another peek
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  #44 (permalink)  
Old May 22nd, 2009, 10:12 AM
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I didn't have it done. I was only 20 and have no family history so quite low risk. I probably would have had it done but I didn't actually go to the doctor till I was 18 weeks so by then, it was obviously too late for it.
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  #45 (permalink)  
Old May 22nd, 2009, 11:17 AM
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I had it done just so I could have a look at DD. I couldn't stand having to wait until 20 weeks to see my bub. I'd probably do the same again next time. Wouldn't get termination either.
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  #46 (permalink)  
Old May 28th, 2009, 10:07 PM
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TBH never bothered with it... i was told by my drs that i wasn't in the age group to be concerned enough bout downs. Suited me i hate all but the US!!!!
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Old August 27th, 2009, 08:40 PM
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I wasn't actually even given an option by my doctor, he just handed me the forms and said this is for your blood test at 10 weeks and your scan at 12 weeks.

I had my NT scan last Saturday. It was a relief to have it done, particularly as I had such good results. I didn't realise how concerned I was about something being wrong until after we had the scan. My mum even commented on how much more relaxed and happy I sounded when she spoke to me.
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  #48 (permalink)  
Old August 28th, 2009, 11:32 AM
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I never had it done with my four boys but this time I just felt I needed too.
I ummed and ahhhed because like many of you, downs was not a termination option for us. However because it tests for other genetic factors I had to be realistic with myself. I am not a spring chicken anymore (wouldnt say old but certainly not in my 20's) and I have four children.
This pregnancy has already kicked my a@#% so I know in myself I simply do not have the energy or the time to dedicate to a special needs child, without my boys missing out or suffering.
I have come back as very low risk which does give me some relief but the reality is that until this one is born I will still worry test or not.
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  #49 (permalink)  
Old August 28th, 2009, 06:27 PM
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No I didn't bother with it even though I could afford it. If I was in my forties I would opt for it though.
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  #50 (permalink)  
Old August 30th, 2009, 04:14 PM
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Based on Age only I had a 1 in 400 risk, I'm 32.

I had the bloods and NT scan to measure the thickness of neck fold and both combined have come back with a risk 1 in 8,512.

I am a total stress head and worry non stop about anything, I also like to plan, so for me it was getting the results then we would decide what to do from there.
Obviously with a risk like that I felt alot better.
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