What else do they look for on the amnio?

[kmummy]

I know after 2days we get the results for 4 syndromes but what else do they look for in the two week results?

The 4 syndromes they look for on the quick results are trisomies or deletions on 4 chromosomes (17, 18, 21 and 26) In the full results they check all the chromosomes. Problems with the others are much more rare than the 4 which is why they check for the four first.

I looked a lot for information on this in the space of waiting between initial clear results and our full results, which sadly showed a significant problem.

I can really recommend ARC for advice and support on this.

hope you get good results next week, try to relax some if you do, chances are the full results will be good too, and if they aren't a period of rest helps build strength to deal with that.

I waas wondering this too. Witlesssarah, do you mind me asking what screening results you had that led you to having an amnio?

I've been given a 1 in 5 of down's but am wary of the amnio as I have heard of 2 people who miscarried a healthy baby after it and yet I'm anxious that there's something seriously wrong.

Caught between the devil and the deep blue sea it feels like.

They also check for the less obvious versions of Downs, such as the mosaic version, where bits of 22 are misplaced rather than missing.

Even though they don't test specifically IYSWIM, they will spot all trisomies (because there will be the wrong number of chromosomes) and major deletions (whole arm of a chromosome missing), but will not be looking for "smaller" variations unless you have a family genetic reason or a specific adverse scan. Also such deletions can be expressed in different ways in the growing baby, so do not have the same diagnostic effect as finding a known syndrome.

Hi remember sorry to hear you've had worrying results, its so hard to make the choices through this. Our nuchal screening showed at situation called a 'cyctic hygroma' where the swelling at the nuchal fold extends to cover the head of the baby. The nuchal fold itself was around 6mm but the generalised swelling was what worried them. They didn't give us odds (1 in 5 etc) they just recommended a CVS.

There were two other women on here at the time on another thread (CVS yesterday emotionally drained) who both had the same situation at the screening and they have gone on to have healthy pregnancies - so no matter how worrying the screening results they are just that, something to help you decide whether to take the risk of invasive tests.

It might help you to talk to the people at ARC (Antenatal Results and Choices website) they were certainly very helpful for us.

hope it all works out for you