Harmony test showing 1:100 risk of Turner's Syndrome

[fourlegstwolegs]

I just got the results, very low risk for Downs etc, but 1:100 for Turner's.
I also had the 12 week scan this morning and everything looked fine.

I am very worried. The consultant has advised me to have an amnio at 16 weeks to get a definitive answer, but obviously that in itself carries a risk.

Has anyone been in a similar situation?

The irony is if I had just had the usual NHS blood tests I'd be in blissful ignorance and over the moon at seeing my wriggly baby....

This result is telling you, that there is a 1% chance that your baby has turners. I think for myself, thinking of it as a percentage chance makes it seem easier to take in. I have been reliably told that there are different risks associated with amnios depending on who does them ie a very experienced doctor will have very low risks when doing one.

I'm sorry you've had worrying news.

Have they found any soft markers for Turners on scans? I may be wrong but lots of girls with turners have lots of extra fluid don't they?

They often give you a 1% mc statistic for cvs and amnio but with many consultants it is much lower. The problem with the stat is that many of those babies would have died anyway because of their condition so it's hard to pinpoint a % for the number a healthy babies that were miscarried as a result of an invasive test.

I would definitely ask for a more detailed scan before an amnio. For me the doc had to find a few soft markers before the consultant would ok and amnio.

No soft markers, which I hope is good news! NT measurement nice and low. I am seeing the consultant again tomorrow afternoon.
Do you know about the more detailed scan? Is it using the same machines in the hospitals or the 3d jobbies?

Yes I know a bit about detailed scans. We were sent to kings Harris birthright centre for ours. I think their equipment is a better quality (they picked up 5 soft markers for a trisomy where as the sonographer the day before had just picked up a very small brain anomaly)

They should be done by a consultant of fetal medicine specialist; our sonographer explained to me that they are trained to look for patterns, when the patterns are wrong then a doctor will then need to look and diagnose (I know it's much more complicated than this but that's how she explained it)

I know that in my next pregnancy I will be having a few detailed scans, all will be carried out by the director of fetal medicine at my local hospital.

None of my scans were 3d though.

If it was me I would ask for an amnio, - like Baffled, I know someone who was told they had 1/100 chance of an abnormality - and they were the 1/100 - it would have given them time to prepare.

But remember no test is perfect - I had various tests as an 'older' mum and my DS was born with a completely different condition that hadn't been tested for as it was so rare (fortunately able to be treated by surgery).

Thank you all. I am just so concerned about having an amnio and then losing a healthy baby. This is a horrid situation.

I have no personal experience of this, but a friend (in her 30s) and a little girl (now 13) I know both have turners.

I think a PP said that often those with significant problems don't survive the pregnancy, but like other chromosomal disorders there is a range of severity of symptoms. Both the people I know are shorter than average and unable to conceive naturally, but are otherwise fit and well.

I think what I'm trying to say is that even if you get a positive result, it doesn't need to be the end of the world.

I'm having a detailed scan at 16 weeks. I'm then booked in for an amnio immediately after, I can decide on the day whether or not to do it. I am very torn. I wish there was a way to know without risk.

I'm sure the detailed scan will give you a better idea of what the best choice will be.

Remember, it is your choice only but the docs are there to give you advice on what they think will be best so you're not totally on your own.

Thanks Kitty. Good point.

Oh my gosh Baffled - a second disabled child? Meaning her first is disabled? What a nightmare for her.

Baffled I have to say it's good to hear that pov (obviously not for your friend)

I think any choice that is the best for you, your family and your baby is valid. I find people are often surprised when I openly talk about my tfmr, I'm not ashamed of my choice, it was the best choice for my family and my baby. Mine was an easier choice as dd2 had Edwards which is totally incompatible with life.

I very much hold the view that unless you have been in the situation and had to make that decision you cannot judge! I have been there and I wouldn't dream of judging someone else's decision.

Sorry that was a bit of a rant, I feel very passionately about it, especially now. I hope your friends baby is ok

Baffled I'm sorry to hear you've suffered similar.

There seem to be so many women and families out there that have had dark times like ours