Glossary

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A

abnormal result
An initial newborn screening result that means additional testing is needed to see if the baby has a condition
ACT sheet
Describes the short term actions a health professional should do following an abnormal newborn screen. This includes ordering confirmatory testing and communicating with the family about appropriate steps in the follow-up of the infant that has screened positive.
additional screening
To screen for conditions that are not included on the state's newborn screening panel; also called supplemental screening
advocacy group
A group of people who work together to support a cause.
assurance monitoring
Each state regulates and ensures that residual dried blood spots are not used unlawfully or without permission and are safely guarded
audiologist
A trained professional who evaluates, diagnoses and treats individuals with hearing loss
auditory brain stem response (ABR)
This test evaluates the auditory brain stem (the part of the nerve that carries sound from the ear to the brain) and the brain’s response to sound.  During this test, miniature earphones are placed in the ear and sounds are played. Band-Aid-like electrodes are placed along your baby’s head to detect the brain’s response to the sounds.  If your baby’s brain does not respond to all the sounds, your baby could have hearing trouble.

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B

biomedicine
When the principles of natural sciences, especially physiology and biology, are used to evaluate and treat medical conditions
blood sample
When blood is drawn from the human body in order to be tested for medical purposes

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C

carrier
A person who has a change in only one gene of a pair and the other gene of the pair is working normally. Carriers typically do not display the symptoms of the condition, but can pass on the change to their children.
cells
Cells are the building blocks of the body. Billions of cells work together in your baby's body.
clinical testing
Testing that is done to confirm if a baby has a condition. Not a part of research.
confirmatory algorithm
A list of the steps that need to be taken to confirm if a baby has a condition or not following an out-of-range result
confirmatory test
Also called diagnostic tests. They confirm or rule out a medical condition in an individual with concerning symptoms or an out-of-range screening result.
core condition
A condition that newborn screening is specifically designed to identify
core panel
The list made up of all the conditions that newborn screening is specifically designed to identify
cytogenetics
The branch of genetics that studies the number and structure of human chromosomes

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D

diagnostic testing
Testing performed after a baby has an abnormal newborn screen. This is the test that confirms if the baby has the condition suspected or not.
disorder
A disturbance in physical or mental health or functions
doula
An individual who helps a woman during labor and provides support to her, the infant, and the family after childbirth
dried-blood-spot testing
The process of testing the small amount of dried blood on the filter paper cards used in newborn screening

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E

electrode
An electrode is a painless conductor through which electricity enters or leaves the body. During your baby's newborn hearing test, an electrode (in the form of a small pad) will be placed on your baby's body to evaluate his or her hearing function.
emergency preparedness
The act of being prepared with your child's medical information in case an emergency event ever occurs
endocrinologist
A doctor that specializes in disorders of the glands

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F

false negative result
A result that means that the newborn screening result came back as normal when disease is in fact present
false positive result
When a child with an out-of-range newborn screening result has a follow-up test result within the normal range, it is sometimes called a “false positive”. The child does not have the condition that the original screen indicated was a possibility.
family history
 A record of medical information about an individual and their family members, as well as information about the eating habits, activities, and environments the family shares.
filter paper
A porous paper that is used to store the baby's blood sample for newborn screening
follow-up testing
The more precise, diagnostic testing done after the initial newborn screening results appear abnormal or inconclusive. Follow-up testing confirms if a baby has a condition or not.
frequency
The  number of times something happens in a specific group.

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G

gene
The instructions inside each cell. They control how a baby will look and how his or her body works. Everyone has slightly different genes, so everyone has a slightly different set of instructions.
genetic condition
An illness caused by abnormalities in genes or chromosomes
genetic counselor
A healthcare provider who has special training in genetic conditions. Genetic counselors help families understand genetic disorders and counsel families in making decisions about the testing or management of a genetic disorder.
genetic disease
A condition that is caused by changes in genes or chromosomes. Also known as a hereditary disease or an inherited disorder.
Genetic Information Nondiscrimination Act (GINA)
The Genetic Information Nondiscrimination Act of 2008 was signed into law by U.S. President George Bush on May 21, 2008. The legislation provides a federal baseline for protections from genetic discrimination in health insurance and employment.
geneticist
A doctor or scientist who studies how genes work and contribute to disease
gynecologist
A doctor who specializes in the health care of women, including diseases of their reproductive organs.

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H

health care professional
Someone with special training in health related areas such as a doctor, nurse, physician’s assistant, or genetic counselor
heel stick
When the baby's heel is pricked to collect a sample of blood for newborn screening
human genome
The human genome is all of the DNA a person possesses

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I

immunologist
A doctor that specializes in conditions of the immune system
in-range screening result
A result that means that the baby's blood test did not show any signs of the conditions included on the newborn screening panel.
inherit
To receive from one's parents by genetic transmission
Institutional Review Board (IRB)
The committee that reviews all research projects and makes sure that risks to people are as low as possible in a research study

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L

long-term follow-up
The process of the state continuing contact and ensuring that the medical needs of patients identified through NBS are met over an extended period of time, beyond the first few months after diagnosis

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M

medical geneticist
A doctor who speciailzes in genetics and genetic disorders
medical home
The facility or physician that coordinates the care of an individual with a complex medical condition
metabolic disorder
A disorder or defect in the way the body breaks down food or other products (metabolism)
midwife
A person who is trained to assist women with childbirth
mutation
Any change in the instruction in a gene.  Some mutations cause disease.

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N

negative test result
A negative result, or in range result, means that the baby's blood test did not show any signs of the conditions included on the newborn screening panel.
newborn screening
Newborn screening is the process of testing newborn babies for some serious, but treatable, conditions. NBS can include a heel stick, hearing screen, and pulse oximetry. The conditions that newborn babies are screened for varies by state.
newborn screening panel
A list of conditions that a baby will be screened for after birth. Each state has its own panel.
non-invasive
A medical test or procedure that does not require a doctor to insert any device through the skin or into a body opening
nutritionist
A specialist who is trained in nutrition and nutritive values of various foods. A nutritionist is someone who can help plan a specialized diet for your baby.

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O

obstetrician
A doctor who specializes in pregnancy and childbirth
opt-out
A parent’s right, in some states, to refuse newborn screening for their child
otoacoustic emissions (OAE) test

This test determines if certain parts of your baby’s ear respond appropriately to sound. During the test, a miniature earphone and microphone are placed in the ear and sounds are played.  When a baby has normal hearing, an echo will reflect back into the ear canal. This echo is measured by the microphone.  If the microphone doesn’t receive the echo, your child may have hearing loss.

out-of-range result
This result means that the baby's screening exam did show signs that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby definitely has a medical condition. Follow-up testing must be performed immediately to determine if a condition is actually present.

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P

patient confidentiality
The right of an individual patient to have personal, identifiable medical information kept private; such information should be available only to the physician of record and other health care and insurance personnel as necessary.
physician
A person licensed to practice medicine, also known as a medical doctor
pilot program
Research studies of new tests, procedures or treatments that are expected to benefit an individual; In newborn screening, conditions are often introduced as pilot programs before they are added to the core panel.
positive screen (positive test result)
This result means that the baby's screening exam did show signs that the baby may be at higher risk of having one or more of the conditions included on the newborn screening panel. This does not mean that the baby definitely has a medical condition. Follow-up testing must be performed immediately to determine if a condition is actually present.
prenatal
Prenatal, which can also be referred to as antenatal, is anytime before the birth of the baby
prenatal care providers
Healthcare professionals who aid a woman throughout her pregnancy. This can include doctors, nurses, genetic counselors and midwives. Prenatal care providers should be knowledgeable about newborn screening and are your best asset to answer questions related to your future baby's healthcare.
preterm
When an infant is born before the expected delivery date
primary care provider
The doctor that your baby normally sees who would have your baby's medical records
privacy protections
Privacy protections and patient confidentiality rules ensure that blood spots cannot be accessed by a third party, including insurers and law enforcement. Protecting the interests of the infants from whom the dried blood spots are obtained is of the utmost importance to state public health programs.
public health
The science and practice of protecting and improving the health of a community, as by preventive medicine, health education, control of communicable diseases, application of sanitary measures, and monitoring of environmental hazards.
pulmonologist
A doctor that specializes in lung conditions and diseases
pulse oximetry
Pulse oximetry, or pulse ox, is a painless, non-invasive test that measures how much oxygen is in the blood.  Infants with heart problems may have low blood oxygen levels, and therefore, the pulse ox test can help identify babies that may have Critical Congenital Heart Disease (CCHD).  The test is done using a machine called a pulse oximeter, which is a sensor placed on the baby’s skin.  The pulse ox test only takes a couple of minutes and is performed after the baby is 24 hours old and before he or she leaves the newborn nursery.
punches
A hole that is made in the newborn screening card by a device similar to a hole puncher. The hole punch sized sample is what is used by the lab to test your baby's blood for the conditions found on your state's newborn screening panel

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Q

quality assurance
A dynamic process of defining the quality of performance required for each step in the testing process
quality control
The mechanism of monitoring the degree of adherence to defined criteria, taking corrective action when the system fails and documenting all of these events to convey the total quality of performance

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R

rare health conditions
An uncommon disorder that affects the ability of the human body to function normally
Recommended Uniform Screening Panel (RUSP)
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) provides national recommendations on newborn screening. These recommendations are reviewed by the Secretary of Health and Human Services. Currently, this committee recommends a screening panel of 30 core conditions and reporting of 26 secondary conditions.  These conditions are also known as the “Recommended Uniform Screening Panel” or RUSP. States use this uniform panel to inform their screening programs, but it is not enforced by law. Ultimately, the states still establish their own panels.
residual dried blood spot
The small amount of dried blood that remains on the filter paper cards after newborn screening has been performed. This may be stored by many labs because of their continued value to the family.
residual sample
The small amount of dried blood that on the filter paper cards after newborn screening has been performed. This may be stored by many labs because of their continued value to the family.
retesting
When a test needs to be repeated in order to clarify, confirm or reject the results of the initial test

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S

screening pilot program
A small scale trial of adding a new condition to a state panel. The results from screening pilot programs often inform the decision of whether that condition should be added to the state panel so all babies would be screened for that condition.
screening procedure
The process of how newborn screening is done, including the heel stick, hearing test, and pulse-oximetry check.
secondary condition
Secondary conditions are the genetic conditions that can be identified when looking for a core condition.  A condition on the newborn screening panel is classified as a “secondary condition” if it is identified unintentionally when screening for one of the core conditions, or as a consequence of confirmatory testing for an out-of-range result of a core condition.
secondary panel
The secondary panel is the set of 26 conditions that can be included in newborn screening in addition to the core panel. They are considered secondary targets, conditions that are part of the differential diagnosis of a core panel condition.
Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC)
The group created to advise the Secretary of the Department of Health and Human Services regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders. Also referred to as ACHDNC.
short term follow-up
The process of ensuring that all newborns are screened, that an appropriate follow-up caregiver is informed of results, that confirmatory testing has been completed, and that the infant has received a diagnosis and, if necessary, treatment.
social worker
A trained professional who provides social services to those in need
specialist
A healthcare providers who has special knowledge about a condition or a specific part of your child's condition. Your child may need to see more than one specialist throughout growth and development.
standard medical procedures
A surgery or practice that is a common and well accepted as the best course of treatment
state assistance
State or public assistance is payment given to individuals by government agencies on the basis of need
state coordinator
The person who is in charge of a specific aspect of the newborn screening process for the entire state
support group
A group of people who are all impacted by the same condition and come together to share experiences and help one another. These organizations offer resources for families, affected individuals, health care providers, and advocates.

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T

tandem mass spectrometry
Tandem mass spectrometry (MS/MS) is the technology that is currently used to screen newborns for a large number of conditions
testing outcomes
The possible results you can receive after participating in a test. In terms of Newborn Screening test outcomes, you can test positive, negative, or inconclusive.
transition process
The transition process is a time when your child will need to change health care providers, most likely from a pediatrician to an adult physician
treatable condition
A condition with a known treatment that can improve the survival and/or quality of life of an individual
true positive result
A small percentage of babies with out-of-range results do have the condition. When these babies undergo confirmatory testing, the result will be out-of-range, as well. In these cases, the newborn screening result is considered a “true positive” since follow-up testing confirms that the child does have the condition. The next step is to get the baby treatment.

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U

uniform panel
The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) provides national recommendations on newborn screening. These recommendations are reviewed by the Secretary of Health and Human Services. Currently, this committee recommends a screening panel of 31 core conditions and reporting of 26 secondary conditions.  These conditions are also known as the “Recommended Uniform Screening Panel” or RUSP. States use this uniform panel to inform their screening programs, but it is not enforced by law. Ultimately, the states still establish their own panels.

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