Glossary

Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)

A federal committee made up of doctors, scientists, parents, ethicists, and researchers. This group advises the United States Secretary of Health and Human Services about newborn screening and related topics. Learn more about the Advisory Committee on Heritable Disorders in Newborns and Children.

Apgar score

A scoring system for assessing a newborn’s health right after birth. The Apgar score measures five key areas of health: skin color, heart rate, reflexes, muscle tone, and breathing rate.

Audiologist

A doctor who has extra training and knowledge in hearing problems.

Automated auditory brainstem response (AABR)

A type of hearing screening used to test an infant’s ability to hear.

Birth prevalence

A measure of how often a condition is found in newborns. If the birth prevalence is 1 in 1000, that means that in a group of 1000 newborns, one newborn has the condition.

Critical congenital heart disease (CCHD)

A group of serious heart conditions present at birth. Children with these conditions need surgery or other intervention before 1 year of age.

Diagnostic test

A test used to confirm or rule out the presence of a medical condition.

Echocardiogram

An ultrasound picture of the heart.

Electrocardiogram

A test that records the electrical activity of the heart.

False-negative result

A result that is in-range, even though the newborn has the condition.

False-positive result

A result that is out-of-range, even though the newborn does not have the condition.

Genetic counselor

A counselor who has extra training and knowledge in changes to our genes that can affect our health.

Health care provider

Any person, such as a primary care physician, nurse, or therapist, who provides health care services for you or your baby.

In-range result

A result that is inside the range of results for typical babies. An in-range result means your baby does not have the condition that the screen is checking for.

Intervention

An action taken to change a health outcome.

Medical geneticist

A doctor who has additional training in changes to our genes that can affect our health.

Milestone

An action or event marking a major change or stage in development.

Newborn screening (NBS)

The process of checking babies to identify those who might have certain serious health conditions that can benefit from early treatment or intervention.

Newborn screening panel

A list of conditions for which newborns receive screening at or shortly after birth.

Otoacoustic emissions (OAE)

A type of hearing screening used to test an infant’s ability to hear.

Out-of-range result

A result that is outside the range of results for typical babies. An out-of-range result means your baby might have a condition and needs further testing.

Phenylketonuria (PKU)

A condition in which babies cannot process a specific amino acid. It can cause serious health problems, including brain damage, if not treated early in life.

Recommended Uniform Screening Panel (RUSP)

The list of conditions for which the United States Secretary of Health and Human Services recommends newborns receive screening.

Secretary of Health and Human Services (HHS)

The person who administers the United States Department of Health and Human Services (part of the U.S. government).

Sensor

A device that detects or measures something.

Specialist

A health care professional who has extra training and knowledge and whose practice is limited to a specific area.

Date Last Reviewed:  February 2020