Help wanted with cvs result please

[Shazz10]

I’m seventeen weeks pregnant, at twelve week scan my baby girl had fluid over her head neck and top of back, a few days later I had detailed scam and referred for cvs, the fluid had cleared apart from back of neck so had bloods but came back high risk for downs so had cvs, initial results clear but final results show extra dna in chromosome one, I’m so worried and have to go back to hospital next Tuesday for scan and see genetic Counseller, has anyone heard of this, tried google but nothing and I’m so worried, thanks in advance for any help

[SpottingTheZebras]

Have you heard of the charity ARC, which you can access here? They will be able to give you lots of advice and support.

I hope things all go well for you.

[Shazz10]

Thank you, going to try ringing them today

[0hMy]

Sorry you’re going through this. I had a similar experience but with a deletion of a chromosome. I came across the website //www.rarecheomo.org which gave some information. However, there is only information on certain sections of chromosomes, so it may not give you correct information for your baby. I couldn’t help but google everything in order to gain any sort of information, but talking to the counsellor will certainly give you clearer information relevant to your baby.

[Cariadxx]

Looking online at 1p or 1q duplication there doesn't seem to be a set syndrome name etc, probably because it's so rare. A lot of these genetic issues are only now being diagnosed so it's really hard to know the effects. It may be nothing with no effect at all, or it causes things like developmental delay, learning difficulties, possibly autism, cerebral palsy and epilepsy but that's a huge generalisation. See what the counsellor says, speak to Arc and think about what you want to do.