Newborn Screening: NBS Basics for Healthcare Professionals
WHAT IS IT?
Newborn screening is a state-based, mandatory, public health program that facilitates presymptomatic testing of all newborn babies in the United States for a variety of health conditions. The goal of the program is to reduce the morbidity and mortality of these disorders by employing early intervention treatments to improve the overall outcome and survival of affected babies. The United States NBS program screens around 4 million newborns each year and is the most expansive genetic screening program in our country.
The NBS program relies on the collaboration of laboratories, pediatricians, public health programs, diagnostic centers and hospitals. Its main functions include
Screen all newborns within a couple days of life
Identify screen positive babies
Diagnose the condition
Relay the diagnosis to the family
Establish a way for the newborn to get treatment
Educating the public and physicians about the NBS
NBS was first developed in the 1960s by microbiologist Robert Guthrie, who suspected that his child had PKU (phenylketonuria)
NBS is sometimes referred to as the PKU test, even though it now tests for many more conditions
Dr. Guthrie also developed the ‘Guthrie Cards’, the blood spot filter papers used for NBS
A treatable disorder on the NBS is detected in 1 out of 300 newborns
Heel stick blood test, 24 to 48 hours after birth
Blood is placed on filter paper and sent to the NBS laboratory (usually a state DOH laboratory) for genetic and metabolic disorder screening
Screening for hearing loss and congenital heart disease happens during this time as well
Pulse oximetry screening detects low oxygen saturation levels that are associated with some congenital heart defects
Otoacoustic emissions or automated auditory brainstem response is used to detect hearing loss
A positive screen result will be followed up on an emergent basis by the lab and participating clinical teams
Some disorders may present shortly after delivery, but other disorders may not clearly manifest initially even though early intervention can prevent severe adverse outcomes
All states have individual NBS programs along with their own policies and regulations.
Opting out of NBS
NBS is a mandatory program
Parents or guardians may be able to opt out of testing if they are a member of a recognized religious organization whose teachings run contrary to this testing
Note: ACMG provides ACTion (ACT) sheets to assist healthcare professionals | ACT sheets provide algorithms to help counsel patients and determine next steps for disease confirmation (see ‘Learn More – Primary Sources’ below to access the ACT sheets)
What Conditions are Included in NBS?
The Department of Health in each state is responsible for curating the list of conditions on its NBS panel
Most state NBS programs follow the guidelines set forth by the Advisory Committee on Heritable Disorders in Newborns and Children which were inspired by the criteria set forth by James Wilson and Gunner Jungner in 1968 and are based on the following criteria
Screening for the disorder must be cost efficient
The cost of screening should be balanced against the cost of not screening
The condition is an important health problem and early diagnosis and intervention with benefit the baby
The natural history of the disorder is understood and there is a recognizable early symptomatic presentation
A test for the disorder is available
There must be available treatment options for the disorder
The selection of disorders beyond the federal Committee recommendations will be determined by each individual state based on
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