Lecture 18-Prenatal Genetics Flashcards Preview

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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)

- ultrasound
- 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
- autism


What are 2 major causes of MR?

- aneuploidies
- Fragile X