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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Exome R21 Genetic Testing

5 replies

loulouhind · 10/01/2023 14:52

Hello, some of you have may have seen my post named ‘12 week scan’ in the pregnancy section, this is just a follow on from that as the circumstances have changed. To save searching for that post a summary is below:

On 12 week scab NT was measuring 3.78mm
Small/no nasal bone
possible Tricuspid valve regurgitation
reverse DV
no evidence of a cerebellum

1:5 chance of downs
1:706 chance of Edwards/patau

CVS test done which I refer to below.

So the CVS tests came back as negative across the board and no chromosome abnormalities were found. Today we went for the 16 week scan which is the first since the CVS and they have now established that the brain and heart are ok, growth is fine for this stage in pregnancy. They have however measured the nuchal fold and it is measuring 8.8mm (they look for 6mm or less) and the ductus venosus is now absent. They have referred us for exome r21 genetic testing (which may or may not be approved). The doctor did say that by week 20 the nuchal fold may have gone to normal parameters and the absence of the DV might not be such a concern.

Has anyone had any experience of any part of the above?

it would be really helpful to allow us to understand what may come of this. It’s been a hell of a journey so far and we don’t feel we can enjoy this pregnancy (first one was IVF so couldn’t really enjoy that one either).

thank you

OP posts:
loulouhind · 13/03/2023 18:15

For anyone who may search for this and comes across my post, message me and I can hopefully answer your questions.

take care

OP posts:
DeflatedAgain · 01/04/2023 01:31

Hi OP didn't want to read and run.

No advice but really hoping you and baby are okay?

Have you had any positive news x

loulouhind · 01/04/2023 15:39

Hello, unfortunately we had to terminate baby Thea for medical reasons. She was born sleeping on the 10th March x

OP posts:
DeflatedAgain · 02/04/2023 01:46

Oh I'm so sorry 😞

Sending a lot of love to you and family.

Really hope you have plenty of TLC and support around. X

rorchoi · 25/01/2025 08:33

Hi there I have just come across your message threads, there seems to be absolutely nothing else out there about R21. I am at the awful stage of waiting for results now. Would like to chat further. Please let me know if you have seen this message as I know it’s not recent.
thanks and hope you are ok x

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