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Original poster

Initial CVS normal full results come back outlook unsure

16 replies

snapperflump · 17/03/2013 08:50

Hi all,

I need some help/reassurance. At 13 weeks we had a 7mm nuchal, we had blood tests and initial CVS which both came back normal. We had a fetal echo which seems normal but at 15 weeks its too early to say either way they ordered a re scan at 20 weeks. Had a call from hospital on Friday saying that the full CVS had thrown up some problem with chromosone 18. Been told its not full Edwards but it is serious, its "complicated" apparently. I had this call Friday at 11am and won't be seen for explanation until Monday at 12, I have no idea what is going on but having had stillborn twins previously at 24 weeks (who had TTTS) in 2006 I am now preparing myself for an induction and delivery fairly soon because that is worst case scenario. I need to be pessimistic right now for hoping for something positive just makes my throat and heart ache. I can hardly eat or sleep. I want this baby so much I can't bear it. Has anyone had anything similar?

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MightBeMad · 17/03/2013 10:01

Oh snapper. No experience I'm afraid but I wanted to offer a hug while you're waiting for someone more useful to come along.

Saundy · 17/03/2013 10:04

I'm so sorry for you, you must be do worried.

I have no personal experience but did work with a guy who's results came back saying it was full Edwards & a termination was actually recommended. He & his wife continued with the pregnancy & DD was born absolutely perfect.

It's not a foregone conclusion, try as best as you can not to worry & look after yourself & bump. I hope things work out for you Flowers

ExpatAl · 17/03/2013 12:51

Oh snapper I'm so sorry, this is so hard. I don't have experience of your current situation but can emphasise a little having lost a son and not daring to hope for a successful outcome of my current pregnancy. An aching heart and throat is something I know too and they're aching right now for you. I hope someone useful comes along but in the meantime I am squeezing your hand firmly.

Original poster
snapperflump · 17/03/2013 13:52

Thank you so much, my eyes filled with tears on your kind words. I've got a friend coming who had a still birth full term, at least she knows what its like to lose a baby and will probably ask more sensible questions than me as I know I won't be able to take it all in. I'll update tomorrow x x

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Pizdets · 17/03/2013 16:42

Oh snapper, so sorry to hear this. We had similar last year...large nuchal, initial results all clear (and we were advised by the hospital to assume it would be 'ok' as anything else v rare) then 10 days later bad news. Also chromosome 18, for us it was a deletion of most of the short arm.

The odds were about 1 in 40,000 and we did terminate the pregnancy under advice from the fetal medical team. I'm so sorry to hear about the twins you lost, facing this kind of thing is horrific.

I can highly recommend ARC (ante-natal results and choices) who will be able to talk to you about your options and can often refer you to people who have been through a similar experience (both in continuing and ending a pregnancy) if you want to talk to them.

Hoping that the implications aren't too bad and that you get a good outcome.

Piz

ExpatAl · 18/03/2013 16:52

How are you snapper? How did today go?

ExpatAl · 18/03/2013 16:53

Just realised I wrote 'emphasise a little'. Hope you know I meant 'empathise', duh.

Original poster
snapperflump · 18/03/2013 19:05

Hi all,

We were told that we have a problem with chromosone 18 which is supposed to have the basic structure looks kind of like an X with two small arms and two longer legs. Ours has one arm and three legs. In simple terms we were told our baby could have: webbed neck, siezures, stiffness/rigid limbs and severe mental 'retardation' (not my words). We chose to have an amnio and scan showed nothing of the sort but doctor is expecting this willhave the same result. We are booked in to be induced on Monday. Devastated ;-(

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Original poster
snapperflump · 18/03/2013 19:06

results of amnio expected to confirm diagnosis on Friday

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ExpatAl · 18/03/2013 19:19

Oh snapper sweetheart, how heart breaking. I'm so sorry, this is so cruel. It must seem unbelievable. Do you absolutely expect the amnio to confirm or is there any hope. Thinking of you all.

Original poster
snapperflump · 18/03/2013 19:22

We expect amnio to confirm. We were told when a baby is created it divides into two parts, one becomes baby one becomes placenta. Occasionally what happens in the placenta is not reflected in the baby but in this case because there is not one normal chromosone 18 in the placenta the doctor does not expect the result to change.

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fatandlumpy · 18/03/2013 19:25

I just want to say that I'm truly sorry. hug

Saundy · 18/03/2013 20:17

I'm so sorry snapper I can't imagine what you must be going through, my thoughts are with you xx

ExpatAl · 18/03/2013 20:54

snapper I understand your explanation. It must seem like a bad dream.
I found www.mumsnet.com/Talk/antenatal_tests_choices/1214853-Antenatal-support-thread-for-women-who-have-chosen-to-terminate-7 this]] thread which might give you some comfort or at least understanding.

Original poster
snapperflump · 19/03/2013 08:32

Thanks ExpatAl I've joined.

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