Prenatal Diagnosis of Trisomy 21
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Questions and Answers

What percentage of people with Down syndrome have trisomy 21?

  • 80%
  • 98%
  • 95% (correct)
  • 90%

Approximately how many cases of Down syndrome occur per 10,000 live births in the United States?

  • 5 cases
  • 12 cases
  • 7 cases
  • 9.2 cases (correct)

What is the term for a mixture of normal diploid and trisomy 21 cells?

  • Dysmorphic features
  • Translocation
  • Mosaicism (correct)
  • Trisomy

What is the procedure that confirms the diagnosis of Down syndrome?

<p>Karyotype analysis (A)</p> Signup and view all the answers

What percentage of individuals with Down syndrome have a Robertsonian translocation?

<p>3% (A)</p> Signup and view all the answers

What is the estimated detection rate of trisomy 21 using maternal age and measurement of nuchal translucency?

<p>63 percent (C)</p> Signup and view all the answers

What is the estimated false-positive rate of first-trimester screening by means of maternal age and measurement of nuchal translucency?

<p>5 percent (B)</p> Signup and view all the answers

What is the advantage of chorionic villus sampling over amniocentesis?

<p>Lower risk of maternal morbidity (A)</p> Signup and view all the answers

What is the benefit of using fluorescent in situ hybridization (FISH) in prenatal diagnosis of trisomy 21?

<p>Rapid diagnosis of trisomy 21 (D)</p> Signup and view all the answers

How long does karyotype analysis typically require after amniocentesis?

<p>7 to 10 days (D)</p> Signup and view all the answers

What is the benefit of combining first-trimester screening with measurement of maternal serum free betahCG subunit and pregnancy-associated protein A (PAP A)?

<p>Increased detection rate of trisomy 21 (B)</p> Signup and view all the answers

What is the primary reason for using ultrasound examination in combination with the triple test?

<p>To reduce the false-positive rate of the triple test (A)</p> Signup and view all the answers

Which of the following ultrasonographic findings is most commonly associated with trisomy 21?

<p>Increased nuchal fold thickness (D)</p> Signup and view all the answers

What is the benefit of using ultrasound measurement of nuchal translucency in first-trimester screening for trisomy 21?

<p>It can reduce the false-positive rate of the triple test (C)</p> Signup and view all the answers

What is the primary advantage of using amniocentesis in pregnant women 35 years or older?

<p>It can detect other chromosomal abnormalities (C)</p> Signup and view all the answers

What is the benefit of using the triple test in combination with ultrasound examination?

<p>It can increase the sensitivity of the triple test (C)</p> Signup and view all the answers

Which of the following is a characteristic of trisomy 21 detected by ultrasound examination?

<p>All of the above (D)</p> Signup and view all the answers

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