The mother of a four-year-old boy with a rare muscle disease says screening newborn babies for the condition could "save ...

Singer Jesy Nelson has pledged to "fight as much as I can" to get all babies tested for a rare muscle disease at birth, after ...

Sickle cell anemia (SCA) is an inherited disorder of red blood cells. Some parents may learn that their infant has this disorder after prenatal testing. Hospitals also test for SCA after birth as part ...

Lancet study proves that NHS refusing to screen for spinal muscular atrophy (SMA) as part of the newborn heel prick test is ...

There are plans to add two more genetic disorders for screening for Wisconsin’s newborn screening program. X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysaccharidosis Type 1 (MPS 1) will be part ...

Congenital factor VII deficiency is a rare, autosomal recessive disorder with an estimated prevalence of 1 in 1,000,000. We ...

Among infants aged 90 days or younger who present to the emergency department (ED) or hospital with hypothermia, what is the prevalence of significant pathology, and what pathology is seen?