Trisomy 13

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Questions and Answers

Which term refers to the microscopic structures in the nucleus of a cell that contain genetic information?

  • Congenital anomalies
  • Ploidy
  • Aneuploidy
  • Chromosomes (correct)

What is the normal number of chromosomes in humans?

  • 47
  • 46 (correct)
  • 23
  • 45

Which term refers to an abnormal number of chromosomes?

  • Congenital anomalies
  • Ploidy
  • Chromosomes
  • Aneuploidy (correct)

What is the term for structural or functional abnormalities existing at birth?

<p>Congenital anomalies (C)</p> Signup and view all the answers

What is the term for the number of complete sets of chromosomes in a cell?

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

Which of the following can cause congenital anomalies?

<p>Both drugs and viruses (C)</p> Signup and view all the answers

What is the term for an abnormality in the structure or number of chromosomes?

<p>Abnormal Chromosomes (B)</p> Signup and view all the answers

Which term describes cells that contain more than two sets of chromosomes?

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

Which of the following is NOT a sonographic marker for Trisomy 21 (Down syndrome)?

<p>A, C and D (B)</p> Signup and view all the answers

What is the main cause of death in Trisomy 21 (Down syndrome) fetuses?

<p>Heart defects (D)</p> Signup and view all the answers

Which of the following is a SOFT marker routinely evaluated for Trisomy 21?

<p>Choroid plexus cysts (A)</p> Signup and view all the answers

Which chromosomal abnormality is also known as Edwards syndrome?

<p>Trisomy 18 (D)</p> Signup and view all the answers

What is the survival rate for infants with Trisomy 18 (Edwards syndrome)?

<p>5-10% (B)</p> Signup and view all the answers

Which of the following is NOT a sonographic marker for Trisomy 18 (Edwards syndrome)?

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

Which syndrome is characterized by the presence of a third 13th chromosome?

<p>Trisomy 13 (C)</p> Signup and view all the answers

Which syndrome affects females and is characterized by the absence of part or all of one X chromosome?

<p>Turner syndrome (A)</p> Signup and view all the answers

What is the most common sonographic marker for Turner syndrome?

<p>Cystic hygroma (C)</p> Signup and view all the answers

What is the cause of triploidy?

<p>Ovum fertilized by two sperm (A)</p> Signup and view all the answers

Which chromosomal abnormality is associated with a complete third set of chromosomes (total of 69 chromosomes)?

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

In triploidy, in what percentage of cases is the extra set of chromosomes paternally derived?

<p>60% (C)</p> Signup and view all the answers

What is the most common sonographic marker for triploidy?

<p>Molar placenta (B)</p> Signup and view all the answers

Which population has the highest number of babies with chromosome abnormalities?

<p>Patients under 35 years of age (A)</p> Signup and view all the answers

What is the most common chromosomal abnormality?

<p>Trisomy 21 (B)</p> Signup and view all the answers

What is the main purpose of biochemical serum markers in screening for aneuploidy?

<p>To identify most fetuses at risk (B)</p> Signup and view all the answers

Why is invasive testing not offered to all patients?

<p>It is too expensive (B)</p> Signup and view all the answers

Which maternal blood test evaluates AFP, estriol, and ß-hCG?

<p>Triple screen (D)</p> Signup and view all the answers

Which hormone is decreased in maternal blood with trisomy 21 and 18?

<p>ß-hCG (C)</p> Signup and view all the answers

What does dimeric inhibin A indicate in the triple screen plus (5 screen) test?

<p>Risk of IUGR and trisomy 21 (C)</p> Signup and view all the answers

What was the detection rate of chromosomal abnormalities with the MSAFP test alone?

<p>25% (A)</p> Signup and view all the answers

What is the Cell-free DNA test also known as?

<p>Non-invasive Prenatal Test (NIPT) (A)</p> Signup and view all the answers

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