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SN undiagnosed genetic conditions

This forum is for Mumsnetters to discuss undiagnosed illness.

Awaiting Trisomy 21 test results

3 replies

JemRose · 07/10/2024 21:07

Hi all.

We’re gin through a hugely emotional time right now and I’m desperate for advise, support, contact with anyone who has had a similar experience…

I gave birth to my daughter 3 days ago.
When she had her newborn checks on day 2, the midwife noticed 2 ‘soft markers’ which could be suggestive of Downs Syndrome.

Full picture: there are lots of indicators of Downs and baby girl only has two:

  • a slightly larger tongue.
  • a slight gap between big toe and other toes.
She doesn’t have any of the facial features or any other physical indicators.

Since this initial check, we’ve been in hospital overnight for heart and breathing monitoring (both can have problems for babies with Downs, but her results have all come back normal and perfect) and seen two consultants.

The highest level consultant saw her this morning and said that based on her observations she thinks it is highly unlikely that our girl does have Downs, and she feels that the tongue and toes are most likely normal genetic variations. However, now that we’ve got this far and the seed of doubt has been sown, we’ve all felt it’s best to go ahead with genetic testing for Trisomy 21. We are waiting for these results and should have them in afew days time.

I feel so anxious, weepy, and sad. The ‘not knowing’ is driving me and my partner insain and we’re really struggling to bond with our beautiful little girl. Instead of looking at her and only seeing how gorgeous she is and how much I love her, I can only look at her and desperately try to see some answers… I’m terrified. Post partum hormones are not helping and I’m worried about falling into a depression.

Has anyone ever had a similar experience? What was the outcome for you? How did you cope?

OP posts:
PolaroidPrincess · 12/10/2024 09:51

I've not been through this and can only imagine how difficult you are finding it. Have they done the test now and have they said how long till you get any results?

LAURAPAX · 29/01/2025 18:52

Hi @JemRose I hope you are doing ok - if you dont mind me asking how did things pan out for you and your family xx

JemRose2 · 29/01/2025 20:30

@LAURAPAX thanks for your message, so this was 3 months or so ago now and a week after my original post we got the blood test results back confirming my daughter does not have Down’s syndrome. They also showed she had no other chromosomal abnormality’s and is perfectly normal in all regards. She’s now a gurgley adorable 3.5 month old and we’ve all recovered from the shock of the potential diagnosis after her birth. I will say it took me a while to relax around her and it had a huge mental impact on me which has led to quite a bit of residual anxiety, but I’m just so so grateful everything turned out ok.

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