Additional chromosomal material

[Zuki]

Okay, this is a bit of a funny one. In my medical files from birth it states I have extra chromosome 21 material, but I don't suffer from any genetic anomalies. I've known all my life, it's never been an issue because it doesn't appear to have impacted my life at all.

Now I'm expecting, I flagged it to the GP and she sent me to see a specialist. Six and a half weeks ago they took bloods, and called me three weeks later to tell me they needed to take more as they had identified additional chromosome 21 material. I was already pretty stressed and pointed out I'd known that and that's why the tests were being done but they said they wanted to find out where it had come from.

Three and a half weeks on I've still heard nothing and I'm going mildly insane from it. DH keeps telling me that if it was anything they would've called me by now but I just need someone to tell me it's okay who actually has a medical qualification which he doesn't seem to understand.

IF they identify anything of concern they'll also want to do an amnio. Given that I am (putting it mildly) shit scared of needles that's not appealing to me, plus I was told that it could be done up to twenty weeks. Well I'm nineteen weeks gone now!!!

Would you chase the results or wait for the hospital? Really not sure what to do!


Edited to add - Downs testing at my twelve week scan came back at 1:14,000

 

[DebbieF]

I would chase down the results if I were you. I had an amnio @ 18 weeks which wasn't pleasant, but it was worth it to me.

 

[Zuki]

Called them this afternoon, the midwife can't find my results and the phonelines at the antenatal are screwed up so they can't hear me. Now actually in tears in my office and I have no idea what to do! So beyond stressed!!!

 

[maybebaby3]

I'd chase the results