Flashcards in Lecture 18-Prenatal Genetics Deck (10):
Does having a child with a de novo chromosomal abnormality mean that the next child should be tested for one even if the parents didn't pass it on to the first child?
yes, there is a risk of recurrence of 1/100
What is better for detecting NTDs? Ultrasonography or maternal serum AFP (MSAFP)?
High AF-AFP is seen in what conditions (4)?
- NTD (highly sensitive)
- fetal blood contamination
- fetal abnormalities (ex: omphalocele)
- placental disorders
What is the most important tool for prenatal diagnosis of major anomalies?
What is the strongest indicator of whether or not a parent will decide to undergo diagnostic testing depending on screening tests?
- attitude of the patient
What are the patient "types" and describe each.
- Type A: high anxiety, wants tests regardless of risk
- Type B: weighs risks and wants assessment of risk before considering invasive diagnostic testing (best candidate for screening tests)
- Type C: refuses prenatal diagnosis or screening tests
Risk based on maternal age can be modified using what screening methods? (2)
- maternal serum
What is the problem with doing screening for mendelian disorders based on ethnicity?
ethnicity is not clear cut--many people don't even know their ancestry
What are the 3 main adjectives to describe fragile X?
- loss of function
- mental retardation