@Gelati it tests for cystic fibrosis, fragile x syndrome (development delay, epilepsy etc) and spinal muscular atrophy which means weak neck and spine I think. He said this one generally means very short life, will die early and no quality of life. There is no cure for it yet. You can still test them now if you want although he said test it during week 10 then we can make informed decision if needed (touch wood). Both parents need to be the carrier. If only one of you is a carrier then baby will be fine.