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 ...

All states screen newborns for certain metabolic birth defects. (Metabolic refers to chemical changes that take place within living cells.) These conditions cannot be seen in the newborn, but can ...

September is Newborn Screening Awareness Month. These screenings are more important than most people realize, said Taylor Hanton, a neonatal nurse practitioner at Intermountain Park City Hospital.

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 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 ...

Adding genomic sequencing to the standard newborn screening heel-prick test is changing how we diagnose kids with genetic diseases.

Newborn screening is a routine health screening of infants that is conducted by most industrialized countries around the globe. It is sometimes referred to as the “PKU test” or “heel prick test” after ...

Advances in technology and the expansion of screening programs has contributed to earlier detection of genetic and pregnancy associated health conditions and structural anomalies prenatally, ...

It was 50 years ago this month that the Journal of the American Medical Association published a letter from Robert Guthrie, UB professor of pediatrics and microbiology, reporting on a new test for ...