A Glossary of Newborn Screening Terms You Need to Know

A Glossary of Newborn Screening Terms You Need to Know

To help make sure that all babies get the healthiest possible start in life, newborn screenings are standard procedure at all US hospitals—thanks in no small part to the advocacy efforts of organizations like the March of Dimes. An important public health service offered to every baby, a newborn screening is a series of special tests that an infant will undergo before the family leaves the hospital, generally within one to two days of birth. The screening involves three parts: a blood test to check for particular health conditions, a hearing screening, and a heart screening. The goal of newborn screenings is to identify any problems early so that treatment can begin as soon as possible.

Because they happen so soon after birth, newborn screenings can feel overwhelming for new parents, especially as they involve many specialized terms and acronyms that can be difficult to understand. The following basic glossary can help to give new parents an overview of some of the vocabulary they might encounter during a newborn screening.

 

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Abnormal result — When a newborn screening returns an abnormal result, it means that further testing is needed to determine whether or not the baby has a particular condition. Note that this does not mean that something is definitely wrong.

Additional screening — Also called supplemental screening, additional screening means to test for conditions other than those required by the state. Keep in mind that each state specifies which particular tests are included in a newborn screening.

Audiologist — A trained professional who specializes in hearing and hearing loss. An audiologist will typically conduct the hearing screening part of a newborn screening.

Confirmatory test — Also known as a diagnostic test, a confirmatory test confirms or rules out the presence of a particular medical condition.

Core panel — The list of all the conditions that are tested for as part of a newborn screening; these conditions are known as “core conditions.”

Electrode — An electrode is a type of conductor that allows electricity to enter or leave the body. During the hearing test of a newborn screening, an electrode—typically a small pad—is placed on the baby’s body to evaluate hearing function. The electrode does not cause the baby any pain or discomfort.

False negative result — This means that a test returned a normal result, even though the condition tested for is actually present.

False positive result — Essentially the inverse of a false negative result, a false positive means that the condition in question is not present, even though testing indicated that it might be.

Family history — This term describes all the medical, health, and lifestyle information that relates to an individual and their family members. A family history can help doctors determine if an infant is at higher risk for particular health conditions.

Filter paper — These porous strips of paper store the blood sample taken from a baby during a newborn screening.

Genetic counselor — A specially trained health care provider who helps families understand genetic conditions, and provides information and guidance about issues like testing for or managing a genetic disorder.

Heel stick — During a newborn screening, a blood sample is taken from the baby by pricking the heel: this is known as a heel stick.

In-range screening result — This test result means that no sign of the specified conditions was present. It can also be called a negative test result.

Non-invasive — This describes a medical test or procedure that does not involve the insertion of any device, such as a syringe or tube, into the skin or a body opening.

Opt out — In some states, parents have the right to opt out of a newborn screening; that is, to refuse testing for their child. In states where this is permitted, parents typically opt out of a test for religious reasons.

Otoacoustic emissions (OAE) test — A type of test that helps determine if a baby’s ear is able to respond appropriately to sound. An OAE test involves placing a miniature microphone and earphone into the baby’s ear and measuring how the ear responds.

Patient confidentiality — This refers to an individual patient’s right to have medical information that is personal or identifiable kept private, and only made available to the physician of record and relevant health care and insurance personnel.

Out-of-range result — This test result means that a screening showed signs that a specified condition might be present; it can also be called a positive test result. As with an abnormal result, this does not mean that the condition is definitely present, simply that more testing is required.

Prenatal — Also referred to as antenatal, prenatal describes any time before the baby’s birth.

Preterm — A situation in which a baby is born earlier than expected. Preterm is usually defined as birth before 37 weeks.

Pulse oximetry — This painless, non-invasive test is conducted as part of a newborn screening to measure oxygen levels in the baby’s blood.

Secondary condition — A genetic condition that is identified unintentionally during the process of screening for a core condition.

Tandem mass spectrometry — This technology is used to test for many conditions during a newborn screening.

True positive result — This situation describes a baby with an out-of-range test result who does, in fact, have the condition in question. This is confirmed by further testing. Only a very small percentage of babies return true positive results during a newborn screening.