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
  • Follow up
  • Educating the public and physicians about the NBS

NBS BASICS:

• 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
• Procedure
  • 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
  • Cost consideration | State’s disorder prevalence | Detection rates | Treatment availability 
• The specific conditions on the NBS screen can be found in ‘Learn More – Primary Sources’ | Core conditions can be broken down into the following categories
  • Metabolic disorders
    • Amino acid disorders
    • Organic acid disorders
    • Fatty acid oxidation disorders
    • Other metabolic disorders
  • Cystic Fibrosis
  • SMA
  • Severe combined immune deficiency (SCID)
  • Endocrine disorders
  • Hemoglobinopathies
  • Congenital hearing loss
  • Congenital heart defects
• The most commonly diagnosed disorders are
  • Hearing loss
  • Primary congenital hypothyroidism
  • Cystic fibrosis
  • Sickle cell disease
  • Medium-chain acyl-coA dehydrogenase deficiency (MCAD)

Obstetric providers and NBS

• ACOG recommends that all obstetrician-gynecologists educate mothers about the newborn screen during prenatal visits
• Information on the NBS should be included in patient materials and brochures and disseminated during the first trimester and several times throughout the pregnancy
• Find the summary for role of ObGyn in NBS below in ‘Related ObG Topics’

Note: Newborn screening does not replace the requirement to offer carrier screening to pregnant women or those considering pregnancy

Learn More – Primary Sources

ACOG Committee Opinion 778: Newborn Screening and the Role of the Obstetrician–Gynecologist

Full List of NBS Resources can be found at the US National Library of Medicine

ACMG: Act Sheets and Algorithms

Advisory Committee on Heritable Disorders in Newborns and Children: Recommended Uniform Screening Panel

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

The Current State of Newborn Screening in the United States

CDC: Newborn Screening Portal

Locate a Genetic Counselor or Genetics Services: 

• Genetic Services Locator-ACMG 
• Genetic Services Locator-NSGC 
• Genetic Services Locator-CAGC

Locate a Maternal Fetal Medicine Specialist 

Maternal Fetal Medicine Specialist Locator-SMFM 

Related ObG Topics:

Newborn Screening – Responsibilities of the Obstetric Care Provider

Key Points in a Discussion of Newborn Screening Before Delivery

Is there a Role for Sequencing Otherwise Healthy Newborns?