Newborn screening

Newborn screening

In Pompe disease, early diagnosis allows treatment to begin soon after birth, and babies who receive treatment early are less likely to need a ventilator to help them breathe, improving chances of survival.

Newborn screening is the process of testing newborn babies for serious, but treatable, conditions, including Pompe disease. The test, which usually is done 24–48 hours after birth, typically evaluates blood spots collected from a heel prick.