(21 Posts)
vickifaith Tue 07-Feb-17 16:09:39

So I have a previous daughter with a chromosome disorder (deletion 18p) I was always under the impression her case was a 'one off' / de novo. And that I had the same small risk as the rest of the population of having another hold affected. Having spoken to a geneticist today my chance is still higher (approximately 1%/ 1 in 100) compared with other 'normal' people (1 in 50,000) this is because I can apparently create eggs that hold the gene. Even though I've had a blood test and been told I have the all clear.

So at 13 weeks and 3 days I now need to look into a CVS.

Thinking of the London ultrasound centre. But have also been offered one with my local NHS consultants.

Does the miscarriage rate vary dramatically between practitioner? Is it worth me travelling 2.5 hours to London?

(Btw had a panorama nipt and all came back clear for the major chromosome defects)

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KittyandTeal Tue 07-Feb-17 18:27:01

I was told I was at a similar risk of T18 is subsequent pregnancies.

I think the mc rate is based in a very old study. It's worth asking your local consultant for their figures. I'm not sure they will give them out but the consultant who did my amnio was happy to tell me she'd never lost a healthy baby after an amnio or cvs she'd done. Worth asking and saving travel time

vickifaith Wed 08-Feb-17 07:34:56

Thanks for your reply kittyandteal. Think you are right I will call local consultant to see what their success rate is...tbh I'm in shock it's 1%. When I met with the genetisist 6 years ago I was under the impression I had the same risk as everyone else. We made a decision not to have a CVS based on this. Unfortunately now things have changed looks like we will go ahead. The London ultrasound centre have said though that if I get the test before this Friday they can turn it around in 7 days which is quite good for a full array. Xxx

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vickifaith Wed 08-Feb-17 07:35:31

Can I ask how you got on with your CVS kittyandteal?

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Lixon Wed 08-Feb-17 09:35:34

I am somewhere between 12-14 weeks pregnant and was diagnosed as having t18 on Monday. I am still coming to terms with it but had no idea I may have an increased risk after, I thought it was just the mosaic form that was hereditary. I'll get my full results back next week so will ask for confirmation.

I had a cvs with an NHS consultant in London last week who was amazing. He said the risk is around 1/1000 based on recent studies (even though NHS paperwork doesn't reflect it) and he had never caused a miscarriage. The procedure itself was a bit unpleasant but I'm very glad I went ahead given the circumstances.

KittyandTeal Wed 08-Feb-17 10:28:01

I had an amnio to diagnose dd2 with T18. We had a tfmr once we got her diagnosis.

When I was pregnant again I was told our recurrent rate was around 1% simply based on just the fact that my eggs had divided badly and therefore showed signs of aging or not being great quality and therefore there's a higher chance of it happening again.

We didn't have a cvs with ds, we had the harmony test which came back clear at 13 weeks. Sadly he died at 14 weeks. We don't know why but we had a full karyotype done and there were no chromosomal issues picked up.

As a result of 2 last losses, being higher risk of trisomies and now an unexplained late loss we have decided to call it a day on ttc and moving forward as a family of 3. It's very sad and I still struggle with it but it's not a risk I feel able to take.

vickifaith Wed 08-Feb-17 12:55:32

I'm so sorry you are going through this Lixon sending lots of love and prayers. I'm in no way a genetisist therefore it may not be the case with your situation. Don't want to play doctor and worry you anymore than you already are! Stats and risk can differ between chromosome disorder. It's such early days for you but you will no doubt have contact with genetic specialists who will talk through your risks - if any. I have been told the 1% is at its maximum and as my daughter is with my ex this risk reduces some more as it could have been him that Carried the gene in his sperm. How are you feeling today? Xxx

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vickifaith Wed 08-Feb-17 13:01:08

Kittyandteal what an exhausting and heartbreaking journey you have been through I'm sorry to hear this. You must have felt devastated to find out second baby was actually healthy after the loss. Have you thought about Ivf where they select the healthy embryos? I can't understand why you have decided to move on from TTC though. I have my cvs booked for Friday. Called my consultant today at local nhs and told they are fully booked this week which means I have no option than to go private. Crazy really considering they didn't give me correct information in the first place. So nervous about Friday but been told results will be back next week which is a relief. Xxx

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KittyandTeal Wed 08-Feb-17 14:51:15

We don't have the money for ivf, especially not with the added cost of genetic screening. We are very lucky to have a healthy 4yo. It has taken a huge toll on us, I think more ttc would create a very unhealthy situation for us. We are re-focusing our energy, I'm running the London marathon and dh is cycling the ride London 100 for charities that have supported us.

Good luck with the cvs. Have you spoken to arc? They are a great charity that will be able to support you through the testing and decision making process.

vickifaith Sun 12-Feb-17 08:20:08

I can imagine what a hard journey you've been on, that would take its toll on any couple. Haven't spoken to ARC will defiantly if the CVS results come back bad. The CVS actually wasn't as bad as I thought. The consultant was brilliant and explained that my increased risk of reaccurance which I was told was 1%, probably isn't 1%. He said the 1% is plucked out of the air as they know I'm very slightly at increased risk but he said its no where near 1%. It sent us into confusion for a while- and we were left to talk alone. We ultimately decided to go ahead with the CVS as I don't think I'll be able to relax without it. I was tender for the first day but today feel much better. Just a shame it's a two week miscarriage window 😔 X

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Catherinebee85 Sun 12-Feb-17 12:06:32

I really hope your results are positive. I have my CVS tomorrow. I'm 31, first pregnancy, really high HCG levels and so am told I've a 1 in 7 risk of downs.

Glad to hear the CVS wasn't that bad! I hadn't even thought about the procedure as I've been too busy worrying about results xx

vickifaith Sun 12-Feb-17 12:16:38

Thank you Catherinebee, good luck for you tomorrow it's honestly not that bad. I feel strangely calmer now the test is done, although I wasn't overly nervous about the test just the results like you. You will get your results quickly I assume because of the trisomy you're worried about. Unfortunately mine will take a week as mine is very rare and needs the full array. Let me know how you get on xxx

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Catherinebee85 Sun 12-Feb-17 12:31:20

Yeah I've been booked in with the best consultant in my area and due to the time I'm having it done may even get the results the next day so in a way I'm very lucky.

I've just been keeping in my head that everything is fine as other than hormone levels in my blood I've no reason to believe otherwise. Scan was fine and sonographer was very happy. It might be a bit naive but it's helping.

I'll check back through the week. Keeping everything crossed for you xx

vickifaith Sun 12-Feb-17 12:42:41

I've also read that it's a more positive sign if it's just the blood that come back unusual... Rather than the NUchal. If that makes sense. The HCG levels could just be your norm!! Hang in there xxx

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Lixon Mon 13-Feb-17 17:43:32

glad you found the CVS ok Vicki, just hope the wait for the full results isn't too painful. I should get the full karotype back this week from my test so we'll find out if the baby had anything else in addition to Edward's. I'll definitely ask some questions about risk for future attempts, we haven't had any successful pregnancy yet so I'm not quite ready to give up although I know it will be even more anxiety inducing next time around. I'm not sure it helps but I was told the miscarriage risk was 2-3 days and haven't read more than 5 days anywhere else so I think 2 weeks sounds quite long.

I hope your CVS went ok today as well Catherine and great news on the speedy results, fingers crossed it comes back clear tomorrow.

vickifaith Wed 15-Feb-17 09:53:54

Hi Catherine

Have you had your results back yet? I'm still waiting on mine but more nervous now than ever knowing they could call at any point xx

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Catherinebee85 Wed 15-Feb-17 10:18:45

I got the all clear. They said they would probably ring some time after 3pm and rang at 3.02 yesterday.

Thankyou for asking. Thinking of you today flowers

vickifaith Wed 15-Feb-17 10:41:06

Oh wow that's such fabulous news!! Congratulations I'm thrilled for you. Enjoy your pregnancy with all the stress now taken away xxx

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Lixon Wed 15-Feb-17 12:23:07

great news Catherine, hopefully you can relax a bit now.

fingers crossed for you today that it's good news vicki, hopefully you won't have to wait too much longer.

vickifaith Thu 16-Feb-17 16:06:01

Hi ladies

Just had a call giving me the all clear on my CVS - full micro array is clear too smile the relief is over whelming. Good luck to you all on all your journeys xx

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Lixon Thu 16-Feb-17 16:26:15

lovely news vicki I am so happy for you. Hopefully the rest of the pregnancy goes smoothly and is relatively stress-free smile

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