Screen test

摘要

Three years ago, a doctor told Debbie Sukin that her son had a rare and serious genetic disease called Angelman's syndrome. The diagnosis meant that her son, then just one year old, would face tremendous physical and mental challenges for the rest of his life. After the diagnosis, Sukin went to see Arthur Beaudet, a leading expert on the syndrome. Beaudet tested Sukin and her husband, and found that neither of them was carrying the genetic fault that had caused her son's disease — the condition had arisen spontaneously in the unborn child. Because there was no reason to suspect a problem, Sukin did not have any genetic tests performed during her pregnancy.