My sister has just been told at 20 weeks pregnant that her baby has achondroplasia and that the drs will do another scan on Thurs to confirm the diagnosis but that they are recommending a medical termination if the pregnancy doesn't just turn into a miscarriage naturally. My sister and her husband are both healthy and have had 3 healthy children previously. This seems a scary diagnosis out of nowhere and after googling the disease (naughty I know as googling almost always makes these situations worse) it seems that lots of people live with anchondroplasia and that it affects height only, doesn't affect intelligence etc. I'm not sure why they'd be so keen to abort the baby if this is what's wrong with the little one. Does anyone have any experience of this as we're all panicking like anything. The thought of a pregnancy just having to be terminated is horrific to my poor sister. Sorry if this topic upsets anyone
Hi I didn't want your post to be unanswered. I am no expert but remember from my university that there is some extreme cases of achondroplasia where the prognosis is very poor (spontaneous miscarriage or baby who doesn't survive for long). It is quite low around 5% but may be the doctors are thinking about the worst for your sister. She should talk to them or a genetic specialist to explain in details to her everything she can thinks of. Have they provided some help/counselling? I am sure they wouldn't ask her to terminate a baby with a good chance of survival. Ultimately it is also her choice to let things happen naturally if she wishes to. Sorry for you and your family.
Although there are some long term health problems associated with achondroplasia, I honestly can't see why a termination would be recommended. People with achondroplasia live very normal lives, just with some adjustments.
Little People of America have a great parent leaflet here and theres support from the UK restricted growth association here.