Newborn screening is relatively young—having been around for only about 40 years

Newborn screening is individualized by state—as such, screening programs are not uniform throughout the United States Currently many states are re-evaluating those tests included in their newborn panel   The Committee on Assessing Genetic Risks of the Institute of Medicine recommends/supports periodic review of existing State programs by an independent body   Furthermore, they recommend/support allowing this independent body to add, delete or modify the individual existing program, but no consensus has been reached to date

Although these tests are designed to detect infants with metabolic and/or genetic diseases they may also: Identify carriers (e.g., sickle cell disease) where specific testing may be indicated Identify babies with variants of the disease who may be clinically asymptomatic Identify  “carrier couples” & families  Impact future pregnancies

 

Confirmation of positive newborn screening tests is always necessary

 

Occasionally babies become symptomatic before the results of the newborn screen are available  (e.g., galactosemia, maple syrup urine disease)

  For that reason, test results should be reported promptly to all involved persons (e.g., parents, physician)

 

It was the early 1960s when the 1st article appeared and suggested a simple way to screen newborns for inborn disorders of metabolism—initially infants were screened for Phenylketonuria (PKU)

	Robert Guthrie, a researcher in Buffalo, NY recognized the need for a simple test that could provide early identification of the infant with PKU.   In 1961 he developed a screening test that was:  Reliable, simple and inexpensive
	The screening test procedure involved:

	A blood sample was taken from the newborn
	Absorbed & dried on standardized filter paper
	Sent to a laboratory
	Analyzed for biochemical indicators of inborn disorders of metabolism
	That screening test has since become known as the Guthrie Test (assay)

However, at the time (the 1960s) the incidence of PKU in the US population was only 1:15, 000

It took significant parental lobbying to convince health care policy makers of the importance and value of this type of “mass” screening

1965, the American Academy of Pediatrics (AAP) finally recommended a newborn screening for PKU on all newborns 24 hours after beginning milk feedings and prior to discharge