A population screening practice in which nearly all newborns are tested shortly after birth, typically on a few drops of blood taken by pricking the baby's heel, to detect inherited disorders before symptoms appear. Its public health value is early diagnosis: with early detection, treatment can begin right away, before serious problems occur or become permanent, whereas untreated conditions can cause lifelong health problems or early death. The practice began with Robert Guthrie's 1961 test for phenylketonuria, and in 1963 Massachusetts became the first US state to require PKU testing of all newborns; by 1967, 37 states had screening laws. The panel of conditions screened varies by jurisdiction.
Facts
Origin YearThe year Robert Guthrie developed the newborn phenylketonuria test; Massachusetts passed the first mandatory screening law in 1963. Practice ClassPreventive care, screening 1 Classification
Practice ClassPreventive or Public Health Practice 1 Connections
Associated With
Source MedlinePlus: Newborn Screening
In Branch
Source MedlinePlus: Newborn Screening
Sources
1. MedlinePlus: Newborn Screening
National Library of MedicineSummary section
If not treated, some of these conditions can cause lifelong health problems. Others can cause early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent.
Summary, heel prick
Tests on a few drops of blood from pricking the baby's heel. The tests look for inherited disorders.
Program classification, entity description sentence
A population screening practice in which nearly all newborns are tested shortly after birth, typically on a few drops of blood taken by pricking the baby's heel, to detect inherited disorders before symptoms appear.
- In Branch: Preventive Care, Summary, purpose
- Associated With: Health Screening Program, Summary, screening framing
View the Source 2. NHGRI: 1961, First Screen for Metabolic Defect in Newborns
National Human Genome Research Institute1961 Guthrie accountQuote, 1961 Guthrie account
In 1961, Robert Guthrie, a doctor and bacterial scientist at the University of Buffalo Children's Hospital, developed a way to test whether newborn babies have phenylketonuria (PKU)
NICHD: PKU Research Contributions
Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentMassachusetts 1963 lawQuote, Massachusetts 1963 law
In 1963, Massachusetts became the first state to pass a law requiring PKU testing for all newborns.
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