CVS all clear for Downs and other trisomies, but they've found a ring chromosome, please help

[eastegg]

had CVS just under 3 weeks ago. 2 days later we were delighted to get the all clear on T21, 13 and 16 and thought we could start to enjoy the pregnancy. Now it's got even worse than before, been told there's a marker chromosome which is a ring chromosome apparently, just been to see the specialist after getting the phone call yesterday, she highly recommends having amniocentesis. I don't understand much but I do understand it might just be in the placenta and not the baby but if it's in the baby it doesn't sound very good. I'm going to have the amnio, results will take 2 weeks. I just can't believe this is happening. I don't want false hope obviously but just wondering if anyone has any experience to offer that might help me through the wait. Amnio will be FridAy morning.

Just to add all the physical signs on the 12 week scan were fine, reason for CVS was a low Papp a reading and my age which brought my risk of Downs etc quite high. I'm 41. My hospital is Kings.

Hi op,

I hope you're doing ok.

With dd I had a cvs but it didnt work, the consultant didn't take enough blood. I got the call the following day asking me whether I wanted to go back and have another cvs or whether I wanted to wait and have an amniocentesis. There was no way I was risking another cvs within 48 hours of the last one so I opted for the amnio.

My risk was 1:35 for downs etc.

My amnio results came through on new years eve but it was a horrible wait between 14 and 18 weeks. I was showing a lot by my dad's birthday party when I was 16 weeks and people kept on congratulating me, but I just couldn't feel happy. I was in limbo for 4 weeks. I do know how you feel but when you get the all clear and I'm sure you will, you can start to enjoy your pregnancy.

Try and keep busy and you will get there. Sorry you're going through this.

Thanks for posting, it's a tricky subject and a fairly rare situation to be in which is part of what makes it so alarming. I feel more gloomy about this than about the 1:20 Downs risk as this feels like a more concrete and unusual thing they've found.
Pleased to hear things seem to have turned out fine for you, hope I've got that right?