Morning Leannac, (sorry for the long post)
I'm currently going through something similar to your sister and first off i want to say I?ve never been recommended a termination (and also Achondroplasia isn?t a disease it?s a genetic disorder).
So a quick overview... 12 week scan NT result of 5.3mm, 1:3 chance of downs, CVS resulted in a normal result e.g. no known chromosome disorders.
16 week scan looked ok but because of the high NT ?something? could still be wrong.
20 week scan showed up short bones and an unusual looking belly and some kind of skeletal dysplasia was diagnosed including Achon, referred to John Radcliffe (from Royal Berks) for 2nd opinion.
21 week scan at JR, saw a consultant, a heart specialist and a geneticist. Consultant confirmed short bones and unusual looking belly, heart specialist confirm heart was ?normal?, the geneticist said they do more tests on my CVS for Achon.
End of week 21 I got a call from the geneticist to say they can?t get a result from the CVS material, do I want an amniocentesis? I said no, by now I?d done some googleing and had found out that Achon is the commonest form of short limb dwarfism and life expectancy and intelligence are both normal and that was good enough for me to decided that I would not terminate for this condition. (I learnt that it?s my decision to terminate up to 23 weeks and after that you can have a termination but it has to be very serious and is only recommended by a professional, Achon isn?t on the list of things they terminate after 23 weeks)
27 week scan (yesterday) things are still up in the air, we still don?t know what?s wrong, the baby still has short limbs but they are growing, the heart is still in proportion to the chest size, however I now have lots of amniotic fluid, so have an increased chance of going into premature labour (I?m now on drugs to help reduce the risk). So we still don?t know if it?s Achon (which isn?t lethal) or any number of other skeletal dysplasia conditions which could be lethal.
So to your sister ? There is a definite test for Achondroplasia (via amniocenties), is this where the diagnosis has come from or is it from just a scan? If it was me and I?d been recommended a termination (which I haven?t, I?ve been asked a couple of times if I?m progressing with the pregnancy to which I?ve said and yes and no one has questioned that decision) I would want to know beyond doubt that the quality of life of that child would be severely limited (incompatable with life) before I make that decision.
As with everything it depends on your circumstances, I decided early on (about the time I started feeling movement) that I wanted to keep my baby and I and my family (this will be my first) would love this baby whatever the circumstances.
Two websites I found useful were - //www.achondroplasia.co.uk and //www.restrictedgrowth.co.uk
My heart goes out to your sister and I hope by sharing my experiences your sister can go to her next scan with some questions that will help her make a decision.