IMPE Abstracts

The primary goals of newborn screening (NBS) for congenital adrenal hyperplasia (CAH) are the prevention of life-threatening salt-wasting crisis in the most severe forms. NBS for CAH from dried blood spots has been implemented in several countries. An increased 17-hydroxyprogesterone (17OHP) concentration in heel-prick blood is used to indicate patients at risk of having CAH. However, compared with the detection of other diseases by NBS, CAH screening is associated with a high...