Foresight terms Flashcards
At Risk Couple (ARC)
Percentage of couples coming in for routine care will ultimately be identified as “high-risk” on the Universal Panel. This is where BOTH members of a reproductive couple are carriers for the same recessive condition, putting each of their pregnancies at a high risk of being affected with the condition.
Copy Number Variant (CNV)
Genetic variants, including insertions, deletions, and duplications of segments of DNA, can collectively be referred to as ____. A ___ is when the number of copies of a particular gene varies from one individual to the next.
Curation
may indicate the process of extraction of important information from scientific texts, such as research articles by experts, to be converted into an electronic format, such as an entry of a biological database.
De Novo Mutation
A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis
Deletion/Duplication (Del/Dup) Deletion
is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome. ___ is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome.
Detection Rate
The proportion of individuals with a particular condition who test positive for that condition when measured by a gold-standard methodology.
Expanded Carrier Screening (ECS)
In _____, many disorders are screened for using a single sample. This type of screening is done without regard to race or ethnicity.
Full Exon Sequencing
is used to identify all remaining bases across the protein-coding exons and in noncoding regions with known contributions to pathogenesis.
Fundamental Carrier Screen
is a carrier screen that looks only at certain conditions, namely CF and SMA with the option of Fragile X added. (One of the panels that is offered with Foresight)
Fundamental Plus Carrier Screen
is a carrier screen that looks at 14 conditions, specifically those recommended by both ACOG and ACMG. In this list, the conditions in this panel are marked with “ACOG” and/or “ACMG” next to the disease name. (One of the panels that is offered with Foresight)
Universal Carrier Screen
is Myriad Women’s Health’s expanded carrier screen (ECS). This ECS includes 176 conditions. Most of the conditions included in this panel are autosomal recessive, with a few that are x-linked. (One of the panels that is offered with Foresight)
X-linked inheritance
refers to genetic conditions associated with mutations in genes on the X chromosome.
Inborn Errors of Metabolism
rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down(metabolize) parts of food
In Vitro Fertilization (IVF)
is an assisted reproductive technology (ART) commonly referred to as ___. ____ is the process of fertilization by extracting eggs, retrieving a sperm sample, and then manually combining an egg and sperm in a laboratory dish. The embryo(s) is then transferred to the uterus.
Newborn Screening
is the practice of testing all babies in their first days of life for certain disorders and conditions that can hinder their normal development. This testing is required in every state and is typically performed before the baby leaves the hospital. The conditions included in newborn screening can cause serious health problems starting in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses.
