Newborn Screening Glossary

Term Definition

One of two or more versions of a gene.  An individual inherits two alleles for each gene, one from each parent.  If the two alleles are the same, the individual is homozygous for that gene.  If the alleles are different, the individual is heterozygous.  Though the term “allele” was originally used to describe variation among genes, it now also refers to variation among non-coding DNA sequences.

Amino Acids Disorders

A group of rare inherited conditions.  People with amino acid disorders cannot digest particular amino acids – the building blocks of protein.  These amino acids, along with other toxic substances, build up in the body.  This can cause serious effects on health, growth, and learning.  Abbreviated AA disorders.


Any of the numbered chromosomes, as opposed to the sex chromosomes.  Human have 22 pairs of autosomes and one pair of sex chromosomes (the X and Y).  Autosomes are numbered roughly in relation to their sizes.  That is, Chromosome 1 has approximately 2,800 genes, while chromosome 22 has approximately 750 genes.

Birth Defect

An abnormality present at birth.  Also called a congenital defect, it can be caused by a genetic mutation, an unfavorable environment during pregnancy, or a combination of both.  The effect of a birth defect can be mild, severe, or incompatible with life.


An individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.  Carriers are associated with diseases inherited as recessive traits.  In order to have the disease, an individual must have inherited mutated alleles from both parents.  An individual having one normal allele and one mutated allele does not have the disease.  Two carriers may produce children with the disease.

Carrier Screening

A type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.  A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder.  A child must inherit two abnormal alleles in order for symptoms to appear.  Prospective parents with a family history of genetic disorders are candidates for carrier screening.

CDA (Clinical Document Architecture)

Converts documents into a format which can be read for machines as well as by humans. By using HL7 CDA any programmer will be able to design an HER which can be transmitted over computer networks and integrated into any other HER written using HL7 CDA standards.


An organized package of DNA found in the nucleus of a cell.  Different organisms have different numbers of chromosomes.  Human have 23 pairs of chromosomes – 22 pairs of numbered chromosomes called autosomes, and one pair of sex chromosomes, X and Y.  Each parent contributes one chromosome to each pair so that the offspring get half of their chromosomes from their mother and half from their father.

Clinical Information System (CIS)

Is a computer based system that is designed for collecting, storing, manipulating and making available clinical information important to the healthcare delivery process.

Confirmatory/Diagnostic Test

Tests done to determine the presence or absence of disease.


Means ‘present at or before birth’.  It usually refers to health conditions or birth defects that are present in a baby at or prior to birth.

Diabetes Mellitus

A disease characterized by an inability to make or use hormone insulin.  Insulin is needed by cells to metabolize glucose, the body’s main source of chemical energy.  Type I diabetes, also called insulin-dependent diabetes mellitus, is usually caused by an autoimmune destruction of insulin-producing cells.  Type II diabetes, also called non-insulin-dependent diabetes mellitus, occurs when cells become resistant to the effects of insulin.


Refers to the relationship between two versions of a gene.  Individuals receive two versions of each gene, known as alleles, from each parent.  If the alleles of a gene are different and one allele is expressed; it is the dominant gene.  The effect of the other allele, called recessive, is masked.

Dried Blood Spot (DBS)

Neonatal blood from a heel-prick is impregnated as several discrete spots onto a card originally conceived by Dr Robert Guthrie in 1959. The blood dries on the card in a round pattern or spot. Guthrie suggested that the card have more than one blood spot sample on each card. Obtaining multiple spots allows for anticipated future expansion to testing.


A medically qualified specialist in internal medicine who has a subspecialty in diseases that affect the glands, i.e. thyroid gland, pituitary gland, etc.

Expanded/Supplemental Newborn Screening

Screening using tandem mass spectrometry that can detect amino acid disorders, fatty acid oxidation disorders and organic acid disorders.

Fatty Acid Oxidation Disorders

A group of rare inherited conditions.  FAODs are caused by missing or non-working enzymes.  Normally, many enzymes are used by the body to break down fat into energy.  In people with FAODs, one of these enzymes is not working and fat cannot be used for energy.  If these conditions are not treated, they can lead to serious health problems.

Family History

A record of medical information about an individual and their biological family.  Human genetic data is becoming more prevalent and easy to obtain.  Increasingly, this data is being used to identify individuals who are at increased risk for developing genetic disorders that run in families.

Functional Interoperability

When two or more systems are able to exchange information


The basic physical unit of inheritance.  Genes are passed from parents to offspring and contain the information needed to specify traits.  Genes are arranged, one after another, on structures called chromosomes.  A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene.  Humans have approximately 23,000 genes arranged on their chromosomes.

Genetic Counseling

A short-term education counseling process for individuals and families who have a genetic disease or who are at risk for such a disease.  Genetic counseling provides patients with information about their condition and helps them make informed decisions. Counseling routinely is provided a variety of healthcare professionals, to include geneticists, genetic counselors, nurses and nurse practitioners/nurse specialists.

Genetic Counselor

Healthcare providers who have special training in genetic conditions.  They help families understand genetic disorders and how they are passed down.  Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder.


A healthcare professional with specialized training in the diagnosis and management of inherited disease/disorders. These professionals have been awarded an MD and or PhD degree or an advanced degree in nursing or counseling.

Genetic Information Nondiscrimination Act (GINA)

Federal legislation that makes in unlawful to discriminate against individuals on the basis of their genetic profiles in regard to health insurance and employment.  These protections are intended to encourage Americans to take advantage of genetic testing as part of their medical care.  President George W. Bush signed GINA into law on May 22, 2008.

Genetic Marker

A DNA sequence with a known physical location on a chromosome.  Genetic markers can help link an inherited disease with the responsible gene.  DNA segments close to each other on a chromosome tend to be inherited together.  Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose approximate location is known.  The genetic marker itself may be a part of a gene of may have no known function.


An individual’s collection of genes.  The term also can refer to the two alleles inherited for a particular gene.  The genotype is expressed with the information encoded in the genes’ DNA is used to make protein and RNA molecules.  The expression of the genotype contributes to the individual’s observable traits, called the phenotype.

Guthrie Card

A piece of card onto which neonatal blood from a heel-prick is impregnated as several discrete spots. Idea conceived in 1959 by Dr Robert Guthrie, an American microbiologist and pediatrician, as an alternative to venepuncture. Sometimes referred to as the Guthrie test, but, strictly speaking, this refers to the original test for phenyketonuria. Robert Guthrie suggested that the card have more than one test for anticipated future expansion.

Heel Prick

A procedure in which the heel is pricked and then a small amount of the blood I collected, usually with a narrow-gauge (“capillary”) glass tube or a filter paper.  Blood from a heel prick may be used to do a number of different tests, including newborn screening tests.


(Or hemoglobin disorders) These inherited diseases of red blood cells may result in varying degrees of anemia (shortage of red blood cells), serious infections, pain episodes, and damage to vital organs.  The symptoms are caused by abnormal kinds and/or amounts of hemoglobin, the main protein inside red blood cells that carries oxygen from the lungs and takes it to every part of the body.  In the sickling disorders, an abnormal hemoglobin called HbS can cause some red blood cells to become stiff and abnormally shaped.  The stiffer red blood cells can get stuck in tiny blood vessels, causing pain and sometimes organ damage.  The severity of these disorders varied greatly from one person to the next.


The Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy and Security Rules. This requires formation and acceptance of  standards for clinical terminology used in EHRs to impose order and uniformity in health information as well as to assure adequate security and confidentiality of the information.

HL7 (Health Level 7)

Is a tool for Transmission used in Reference Information Model (RIM), Clinical Document Architecture (CDA), and Extensible Markup Language (XML). HL7’s mission statement – “to provide standards for the exchange, management, and integration of data that support clinical patient care and the management, delivery, and evaluation of healthcare services.  Specifically to create flexible, cost-effective approaches,  standards, guidelines, methodologies, and related services for interoperability between healthcare information systems”.


A condition in which the person does not make enough thyroid hormone.  It is most common in adult women and causes symptoms such as cold, pale, dry skin, brittle hair and nails, fatigue, weigh gain and sluggishness.  When the thyroid is not making enough hormone at birth, it is called hypothyroidism.  Hypothyroidism is treated by a medication that replaces natural thyroid hormone the person cannot make on his or her own.

ICD 9/10

The International Classification of Diseases (ICD) is the classification used to code and classify mortality data from death certificates.

Informed Consent

Voluntarily agreeing to do something after receiving and understanding all of the relevant information.  Participation in all medical trials requires informed consent.


Acquiring a trait from one’s parents.  Most traits, such as eye color or hair color, are inherited from a parent through genes.

LOINC (Logical Observation Identifiers Names and Codes)

LOINC is often the central components of clinical information systems (CIS) and/or EHRs. It is a Standard set of names and codes for laboratory tests and clinical observations. Development began in 1995 and generated widespread acceptance. Now it includes more than 14,000 codes classified  into six subject headings

Maternal PKU Syndrome

A group of birth defects found in some babies born to women who have PKU.  Women with PKU who are not treated before and throughout pregnancy have a high chance to have babies with one or more of these health problems.  Symptoms of maternal PKU can include microcephaly (heads and brains that are too small), mental retardation, heart defects, and low birth weight.

Metabolic Disorder

People with metabolic disorders are not able to break down certain substances in food.  Too much or too little of a certain substance (like fat, carbohydrates or proteins) can cause serious health problems.  Fatty acid oxidation disorders (FAOs) amino acid disorders (AAs) and organic acid disorders (OAs) are three types of metabolic disorders.


This is the process of using food substances for energy and for growth and repair of the body.


A change or alteration that occurs in the DNA.  Mutations can be caused by the environment (sun, radiation, or chemicals), aging, or chance.  Often causes of mutation are never known.  Some mutations do not affect the information contained in the DNA.  Other mutations have serious consequences on how that gene functions.

Newborn Screening (NBS)

A screening test that looks for different disorders using a small sample of blood.  A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to confirm or rule out a metabolic disorder.

Organic Acid Disorders

A group of rare inherited conditions.  OA disorders are caused by one or more enzymes that do not work properly.  People with these conditions cannot digest certain parts of protein from the food they eat.  This causes harmful substances to build up in their blood and urine.  This can cause serious effects on health, growth, and learning.

Organic Acids

Substances in the cells of the body that help break down fat, sugar, and protein form the food we eat.  Babies with organic acid disorders often have excess amounts of specific organic acids in their blood and urine.  This can cause serious effects on health, growth, and learning.

Out of Expected Range

An out of expected range newborn screening result means that a disorder may be present.


A depiction (in a computer program or on paper) that includes all of a person’s close relatives, the relationship between family members, and health information.  A pedigree is used by health care professionals to analyze a family for genetic diseases.


An individual’s observable traits, such as height, eye color, and blood type.  The genetic contribution to the phenotype is called the genotype.  Some traits are largely determined by the genotype, while other traits are largely determined by environmental factors.


One of 20 amino acids that make up protein.  It is also called “Phe” (pronounced “fee”).  It is not made by the body and must be eaten in the diet.  It is found in all foods that contain protein.


Refers to the relationship between two versions of a gene.  Individuals receive one version of a gene, called an allele, from each parent.  If the alleles are different, the dominant allele will be expressed, while the effect of the other allele, called recessive, is masked.  In the case of a recessive genetic disorder, an individual must inherit two copies of the mutated allele in order for the disease to be present.

Residual Dried Blood Spot

States’ Newborn Screening programs use neonatal blood from a heel-prick that are impregnated as several discrete spots to help find rare diseases as early in a child’s life as possible. Not all the blood spot samples on each card are consumed when Dual Mass Spectrometers (MS/MS) are used to conduct the screening process. Therefore, obtaining multiple spots from each newborn generates residual dried blood spot samples or “left-over-spots.


Refers to the probability that an individual will be affected by a particular genetic disorder.  Both genes and environment influence risk.  An individual’s risk may be higher because they inherit genes that cause of increase susceptibility to a disorder.  Other individuals may be at higher risk because they live or work in an environment that promotes development of the disorder.

RIM (Reference Information Model)

The HL7 Reference Information Model (RIM) is a developing standard explicitly targeted to enable “consistent sharing and usage of data across multiple "local" contexts”. RIM enables disparate software applications to exchange clinical and administrative healthcare data. RIM represents clinical data pictorially and identifies the life cycle of events carried by a message or groups of related messages.  RIM is used to create a messaging standard by defining fields (blank areas) that are designed to contained standardized vocabularies meeting certain requirements.


The process of testing for disease in a person who does not show signs of having the disease (non-symptomatic or asymptomatic person).  The goal of screening is to catch the disease in its early stages.

Semantic Interoperability

When two or more systems are able to use the information that has been exchanged.

Sex Chromosome

A type of chromosome that participates in sex determination.  Humans and most other mammals have two sex chromosomes, the X and the Y.  Females have two X chromosomes in their cells, while males have both X and Y chromosomes in their cells.  Egg cells all contain an X chromosome, while sperm cells contain an X or Y chromosome.  This arrangement means that it is the male that determines the sex of the offspring when fertilization occurs.

SNOMED (Systematized Nomenclature of Medicine)

Reference medical terminology set developed originally by the College of American Pathologists (CAP). Contains more than 300,000 coded medical terms. It defines a wide spectrum of clinical concepts including diseases and findings, procedures, biological functions, body structures, substances, specimens, and social contexts.


Occurring occasionally or randomly.  In medical terms, a sporadic disease is one in which the disease occurs in people with no family history and no inherited cause.

Tandem Mass Spectrometry (MS/MS)

Two mass spectrometers, an analytical instrument, hooked together to “electronically” weigh molecules.  The weight of a molecule is its mass.  Every molecule has a unique mass.


A group of inherited blood conditions caused by decreased production of hemoglobin.

“Too Early” Specimen

The blood specimen was collected before the baby was 24 hours old.

Unsatisfactory Specimen

There is not enough blood to complete all of the required screening tests or the sample cannot be tested for other reasons, such as too much blood on the sample.


A trait where a gene is located on the X chromosome.  Humans and other mammals have two sex chromosomes, the X and the Y.  In an X-linked or sex linked disease, it is usually males that are affected because they have a single copy of the X chromosome that carried the mutation.  In females, the effect of the mutation may be masked by the second healthy copy of the X chromosome.

XML (EXtensible Markup Language)

XML is a data representation standard which allows information transmitted over the Internet to be clearly interpreted by the receiver of that information. XML is a subset of the Standardized Generalized Markup Language (SGML), which is used to create HyperText Markup Language (HTML). XML enables the transmission of HL7 information over the Internet.