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</p> Signup and view all the answers

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

    <p>Ploidy</p> Signup and view all the answers

    Which of the following can cause congenital anomalies?

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

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

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

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

    <p>Polyploidy</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</p> Signup and view all the answers

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

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

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

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

    Which chromosomal abnormality is also known as Edwards syndrome?

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

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

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

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

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

    What is the most common sonographic marker for Turner syndrome?

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

    What is the cause of triploidy?

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

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

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

    What is the most common sonographic marker for triploidy?

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

    What is the most common chromosomal abnormality?

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

    Why is invasive testing not offered to all patients?

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

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

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

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

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

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

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

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

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

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