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Unilateral Radial Aplasia and low PAPP-A & HCG - awaiting Harmony results

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BeatrixP · 26/06/2020 20:34

Hello, I haven’t used Mumsnet before and I am hoping to find some solice, if that’s at all possible in our circumstances.

I am 28 and pregnant with baby number 2. 2 weeks ago we found out during a scan that baby has something called Unilateral Radial Aplasia (basically baby is missing a radial bone in one arm, it is very rare). Everything else looked fine, heart, brain size etc.. and we were feeling positive. There is a lot that can be done and we were just so grateful everything else looked good . The doctor was quite sure that as the Radial Aplasia is unilateral, it is not linked to a syndrome, as well as the fact everything else looks healthy.

We received my NIPT results back a week later, and were shocked. 1/97 chance of Trisomy 18. Our doctor explained that this was not due to the RA but because of my Low PAPP-A and HCG. PAPP-A was 0.337 & HCG 3.341. Having looked this up online, it seems more borderline then critical, but still, the doctor didn’t seem hugely positive and I’m so very worried. We want this baby more than anything, as every mum to be would. We are awaiting our harmony results (due in 2 days, Monday) and both me and Husband are very worried. Trying desperately to hold onto hope, and staying positive for our 18 m/o bundle of joy.

I guess I’m wondering, after this long message, has anyone else ever experienced anything like this before ? Your help and words of wisdom would be very gratefully received.

Thank you for reading

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