Genetic Counseling and ART Flashcards
Who is considered a high risk individual? (6)
- Age at onset of a disease in a first-degree relative relatively early compared to the general population
- Two affected first-degree relatives
- One first-degree relative with late or unknown disease onset and an affected second-degree relative with premature disease from same lineage
- Two second-degree maternal or paternal relatives with at least one having premature onset of disease
- Three or more affected maternal or paternal relatives
- Presence of a “moderate-risk” family history on both sides of the pedigree
Who is considered a moderate risk individual? (2)
- One first-degree relative with late or unknown onset of disease
- Two second-degree relatives from the same lineage with late or unknown disease onset
Who is considered an average risk individual? (4)
- No affected relatives
- Only one affected second-degree relative from one or both sides of the pedigree
- No known family history.
- Adopted person with unknown family history
Responsibilities of a genetic counselor (3)
- Work with patient to inform other family members of risk
- Offer testing to provide the most precise risk assessment
- Explain what approaches are available to the patient and family members to modify the risks
What are sperm?
Semen known to be involved in reproduction
Leeuwenhook’s take on sperm (1678)
- Thought sperm were parasitic animals
- “Spermatozoa”
- Then changed it to sperm containing preformed embryos
Lazaro Pallanzani’s take on sperm
“Spallanzani put the male toads into taffeta breeches and found toad semen to be devoid of sperm; such semen did not fertilize eggs.”
Clueless on sperm until what year?
1847
Where does sperm maturation occur?
-epididymis
In order to fertilize efficiently, _______ must occur in the female reproductive tract.
Capacitation
Big problem with male fertility
- Sperm have to get into the oviduct/Fallopian tube to fertilize the egg
- 300 million sperm per ejaculate
- 300 make in into Fallopian tube
- Sperm isn’t fully mature before ejaculation
Three helpers for sperm
- Sperm motility and sperm trains
- Uterine muscle contractions
- Sperm rheotaxis:migrate against flow
Big problem for female fertility
Number of germ cells decreases significantly after birth, then continue to decrease steadily
Masculinizing hormones (3)
- Testosterone-masculinization bipotential gonad
- Dihydrotestosterone (DHT)-required for growth of penis and descent of testicles before birth; appear female without DHT until puberty
- AMH-degeneration of Müllerian duct
Masculinizing hormones (3)
- Testosterone-masculinization bipotential gonad
- Dihydrotestosterone (DHT)-required for growth of penis and descent of testicles before birth; appear female without DHT until puberty
- AMH-degeneration of Müllerian duct
