My outcome was not so good our 12 week NT scan showed the nuchal fold at 4.8mm and with our low papA we were given a 1 in 2 chance of DS we had a cvs which came back all clear but our 16 week scan showed the baby was small and so after many u/s and an amnio (also all clear) they finally detected hand and feet abnormalities and major heart abnormalities the professor at the fetal medicine unit said the baby was not viable with life.

It turned out after her autopsy she had smith lemli opitz syndrome and my DH and i are carriers for it and we have a 1 in 4 chance of every baby we have being affected cvs and amnio tests or FISH testing only test for commom chromosnes they do not test for genetic abnormalities so will not detect it unless you have had previous genetic testing and they know which of the 5000+genes they are looking for to find the fault my DH and i under went 4 months of genetic testing for them to isolate the exact gene that caused this abnormality and now when we have a cvs they can look for it.

I would like to add that the nuchal fold test is just a marker for thousands of potential genetic and chromosonal problems it is not always correct (thank god) but a cvs and amnio dont rule out a problem with a baby it is not possible to test for every condition that can effect humans and after joining a group for people who have lost babies due to genetic conditions i relised there is a lot out there people just dont know about and i for one will have every test available to make sure i bring a healthy baby into this world i don't want to worry women but i want you to know the facts as i went into our NT scan and cvs without knowing they only test for a very limited amount of things
I am pregnant now and waiting to have a cvs in 7 weeks to look at this babies DHC7 gene which will tell us if this baby has smith lemli opitz or not.