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Potential abnormalities in pregnancy

17 replies

Kewley · 11/05/2020 12:45

Hi on my 12 week scan they found potential abnormalities and now been referred to specialists which I see tomorrow, they are worries about arms lengths or absent arm bones. I'm really worried and my head has been all over since this as I already have a healthy girl with no issues so this was very unexpected. Has anyone been through this or anything similar and what was the outcome of anybody feels brave to talk
Thanks

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ginandgingers92 · 11/05/2020 12:51

Hi, I had multiple abnormalities picked up last November at my 20 week scan (albeit not related to arms), and ended up having amnio. I was the same as you and my head was all over the place; right up until she was born. Make a list of any questions that arise before, during, after appointments. I really hope the referral goes well for you x

ginandgingers92 · 12/05/2020 12:26

I hope today's appointment goes well @Kewley, thinking of you

Kewley · 12/05/2020 17:19

Thanks you, was your little one ok when they were born or did they pick things up on tedtd etc. Hope you don't mind me asking?

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ginandgingers92 · 12/05/2020 18:23

How did it go? Xx
So basically at 20 weeks they picked up talipes (club foot), short femurs, small size and fluid on the heart. All are soft markers for downs so we were offered and accepted- thankfully this came back negative. The fluid eventually disappeared but she stayed small - it ended up being inuterine growth restriction, so we had twice weekly scans, steroid injections and she was delivered at 36 weeks. She was small (4lb 6oz) and does have a club foot which is being corrected, but otherwise she seems perfectly healthy :)

ginandgingers92 · 12/05/2020 18:24

She's only 12 weeks so things may emerge but so far so good :)

FourPlasticRings · 12/05/2020 18:25

Hope everything went well today, OP.

Kewley · 13/05/2020 21:38

@FourPlasticRingsThank you OP. @ginandgingers92 it went ok, they couldn't see any fluids on face or head which is good, legs looked ok from what they could see, but arms looked short so not sure what that is or means so had cvs test done which is like the amnio. Was awful but will tell us about downs, Edwards and pataus and look at all chromosomes as well. We have to go back in a couple weeks for another scan to get better look at arms and baby in general, hopefully that will show if it's bone issue or growth issue etc. Did the steroid injections help your baby develop further like leg length etc x

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Witchend · 13/05/2020 21:53

Dd was picked up at 20 week scan missing her arm from below the elbow.
I'm taking from your op it's both arms, and fingers look normal development, so slightly different.
What I will say is that it is not the immense disability we thought on the day of the scan. She does everything anyone else does, and you little one will too.

Kewley · 14/05/2020 10:01

Can your daughter write and play and dress etc like does she have prosthetics or were they an option etc and is she living a good full life? @Witchend

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Witchend · 14/05/2020 10:27

@Kewley

She has prosthetics but she, along with most of her friends chooses not to wear them
She coaches gym, plays the trumpet, has done circus work and everything and more the others have done. She dressed herself younger than the others, is looking forward to driving next year etc

ginandgingers92 · 14/05/2020 11:25

The steroid injections were just to help develop her kings for early delivery due to her size. I'm pretty sure by the end of gestation her femurs has evened out in terms of size... no one told me otherwise!

🤞🏼🤞🏼 for your results, I got my amnio within 2 days for the 3 main syndromes; is it a similar timescale for CVS?

Kewley · 14/05/2020 22:40

@Witchend that's really amazing, I'm so glad to hear she has managed well and lives a good full life. @ginandgingers92
Ahh yeah that's what the steroids are for, I remember my dad's wife having those when having my brother. Yeah I got the results of Edwards, downs and pataus and they came back all clear/negative which is brilliant news for us, we're just waiting for the results of the rest of the cvs like other chromosomes x

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ginandgingers92 · 14/05/2020 23:01

@Kewley amazing news, I'm so happy for you 🤗🤗🤗

Witchend · 15/05/2020 07:24

Good news. Good luck for the rest of the tests.

Kewley · 24/05/2020 09:07

Thanks everyone and thankyou for your help and support, got the next scan Tuesday and still awaiting other test results

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ginandgingers92 · 24/05/2020 14:39

@Kewley how are you feeling about things?

ginandgingers92 · 26/05/2020 10:23

Good luck for today's scan @Kewley 🍀

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