When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

Within a few days after birth, babies around the world undergo a quick needle prick to the heel. The blood drop that results is used to detect as many as 50 genetic disorders so that, if found, they ...

To the Editor: Because it seems unfortunate that mis-understandings in some places have delayed the inauguration of screening programs for phenylketonuria in newborn infants I am sending this or a ...