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is the process of identifying whether a person is at a high, moderate, or low risk of developing a genetic disorder. It is an important step in deciding whether or not a patient or family would benefit from genetics referral. Importantly, nurses should not attempt to provide genetic counseling because this is beyond the scope of practice
risk stratification
F-GENES: red flags of genetic disease
family hx, group of congenital anomalies, extreme presentation of common conditions, neuro delay, extreme pathology, surprising labs
SCREEN questions for familial disease
some concern, reproduction, early disease/death, ethnicity, non genetic
circles represent
women
men represent
squares
a diagonal line through circle or square means the person is
deceased
person of interest - who you are doing the pedigree on, Will be indicated with arrow in lower L corner
proband
circle or square with brackets inward [ ] means the person was —-
adopted into family
circle or square with brackets outward ] [ means the person was ——
adopted out of family
dizygotic twins will be indicated with —-
triangle connection
monozygotic twins will have triangle like connection similar to dizygotic twins but will have a —— looking like a capital A
band across
indicates a pregnancy loss, If the sex of the fetus or embryo is unknown, use a diamond or a triangle
small symbol
a double horizontal line between two people indicated an —- relationship
incestuous
A family history is the easiest and least expensive way to begin identifying genetic risk, Information should include at least three generations, major illnesses, ages at diagnosis or death, and ethnic background, Data should come from multiple relatives for accuracy.