Baseline Test Flashcards
T/F
Down syndrome is caused by an extra copy of chromosome 21.
True
T/F
When both parents carry a mutation in the same gene associated with an autosomal recessive condition, each pregnancy has a 25% (1/4) chance of being affected.
True
T/F
Preimplantation genetic diagnosis (PGD) involves the testing of embryos for known genetic mutations, prior to transfer of those embryos to the uterus.
True
T/F
The term “residual risk” describes the chance a patient is not a carrier for a condition, when test results are negative.
False
T/F
After receiving positive Non-Invasive Pregnancy Screen (NIPS) results, the patient is not a good candidate for additional diagnostic testing, such as Chorionic Villus Sampling (CVS) or amniocentesis.
False
T/F
SNPs are always associated with an increased or decreased risk of developing a certain disease.
False
SNPs may or may not be associated with an increased risk of developing a certain disease.
T/F
A provider following current ACOG guidelines must offer expanded carrier screening to her patients.
False
T/F
Screening tests identify whether individuals are at increased risk for condition, while diagnostic tests determine whether the condition is present or absent.
True
T/F
The At Risk Couple (ARC) rate is the percentage of couples tested where each are found to carry mutations in the same gene but where there is not a risk of having an affected child.
False
T/F
The Foresight Carrier Screen is performed using heteroduplex analysis and Sanger sequencing.
False
This statement is incorrect. The Foresight Carrier Screen is performed using full-exon sequencing and panel-wide deletion calling.
T/F
Positive predictive value is the chance the a patient with a positive screening result will be diagnosed with the condition.
False
Positive predictive value is is the chance the the patient with a positive screening result will be diagnosed with the condition.
T/F
If a patient receives a positive result on the myRisk panel, there is a 50% chance each of her/his children will also carry a mutation.
True
T/F
A “no-call” NIPS requires no additional follow-up by the provider and has not been associated with an increase in patient anxiety.
False
T/F
A negative result on a carrier screen with a very low detection rate will have little to no impact on the patient’s residual risk.
True
T/F
There are 35 genes on the myRisk hereditary cancer panel.
True
T/F
All Prequel results, both positive and negative, include an individualized patient risk assessment.
True
T/F
Ovarian, colorectal, endometrial, pancreatic, and gastric cancers can all be associated with Lynch syndrome.
True
T/F
A SNP association found in a specific population can be generalized to all populations.
False
T/F
The Foresight Universal panel was designed by selecting diseases which met criteria for severity, actionability, prevalence, and sensitivity.
True
T/F
Detection rate is the percentage of known mutation carriers that a test can identify.
True
T/F
The higher the detection rate provided by a screening test, the higher the residual risk after a negative result.
False
T/F
Aneuploidy is the term used to describe a karyotype with the correct number of chromosomes.
False
T/F
Del/Dup stands for deletion/duplication, which is change in the DNA sequence resulting in missing (deleted) or additional (duplication) genetic information.
True
T/F
A copy number variant (CNV) is a type of variation in the DNA in which sections are repeated, with the number of repeats being the same among all individuals.
False
T/F
Myriad myRisk identifies elevated cancer risk for six different cancers by analyzing multiple, clinically significant genes.
False
