Misc. 2 Flashcards
association
a group of anomalies that occur more frequently together than would be expected by chance alone but that lack a predictable pattern of recognition or suspected unified underlying etiology
sequence
a group of related anomalies that generally stem from a single initial major anomaly that affects development of other tissues or structures
field defect
may be used interchangeably with “sequence”
deformation
caused by an abnormal EXTERNAL force acting on the fetus during in utero development
disruption
normal growth of a fetal structure is halted prematurely
malformation
fetal growth/development did not proceed normally because of underlying genetic, epigenetic, or environmental factors that altered development
dysplasia
intrinsic cellular architecture of a tissue is not normally maintained throughout growth/development
analytical validity
ability of a test to accurately measure a given analyte; based on 5 factors
analytic accuracy
degree of agreement of the test result with the “true value”
analytic precision
agreement between measurements, or “reproducibility”
analytic sensitivity
can the test detect a very low level, such as 1%?
analytic specificity
ability to detect only the analyte of interest; or the proportion of negative results
analytical predictive value
percentage of all positive results that are true positives
clinical validity
ability of a test to predict the presence of the associated disorder or phenotype; percentage of patients who are correctly classified as having the disease or not
clinical sensitivity
probability that a person with disease will have a positive test result
clinical specificity
probability that a person without disease will have a negative test result
clinical utility
ability of a test to affect positive outcomes
clinical positive predictive value
probability that a person has the disease, given test is positive
clinical negative predictive value
probability that a person dose not have the disease, given test is negative
What is the typical recurrence risk for an imprinting disorder?
1%
What is the best way to estimate carrier frequency of an autosomal recessive disease when given the incidence?
square root of the incidence times 2
What proportion of twins are monozygotic and what proportion are dizygotic?
1/3 mono
2/3 di
In Bayes’ Theorem, what are the 4 rows of the calculation table?
- prior
- conditional
- joint
- post
What proportion of same sex twins are MZ vs. DZ?
half
