Conception/ Genetics Flashcards
what is TTC
trying to conceive
importance of genetics to fertility
- provides tools to determine heredity component of many disease
-improves ability to predict:
susceptibility
onset
progression
response
to tx - earlier dx
-ppl who would have previously died in childhood to survive into adulthood
genetic testing of in vitro embryos
- testing done after the embryo cells (4-6 cell blastocyte) have fertilized and split in petri dish
- one cell can be tested for genetic diseases
- if (+), they dont use the embryo
- if (-), they use the embryo
how much does each in vitro tx usually cost
40k
def genomics
- tailoring meds to each pt based on genetics
disorders that are more susceptible in certain ethnic groups
tay sachs
thalasemias
PKU
CF
nursing role during genetics testing
- collect, report, and record genetics info
- prenatal screening and testing
- offer info and resources
- informed consent
- care/counseling of families who have lost a child to a genetic condition
- collect fam hx
- referral for specialized services
a miscarriage in the 1st trimester is usually due to
chromosomal abnormalities
chromosomal abnormalities are a major cause of
reproductive loss
congenital problems
gyn disorders
abnormalities of chromosome structure
translocation
deletions
inversions
def unifactorial chromosomal abnormality
- a single gene controlling a trait, disorder, or defect
what kind of chromosomal abnormality is more common: unifactorial or multifactorial
unifactorial
what is the most common genetic malfx
multifactorial
what birth defects are a result of multifactorial genetic malfx
cleft lip/palate
neural tube defects
congenital heart disease
pyloric stenosis
what is the avg age of 1st menses
13 years old
why is the avg age of menses decreasing
environment and food
