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Cell-Free Fetal DNA Testing and Diagnostic Tests for High-Risk Conditions
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Cell-Free Fetal DNA Testing and Diagnostic Tests for High-Risk Conditions

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Questions and Answers

Which procedure is performed under continuous ultrasound guidance?

  • CVS
  • Amniocentesis
  • Cordocentesis (correct)
  • Both amniocentesis and CVS

    • Which test can be performed at 9 weeks’ gestation?

  • Cordocentesis
  • Both amniocentesis and CVS
  • CVS (correct)
  • Amniocentesis

    • Which test is used to diagnose spina bifida?

  • Amniocentesis
  • CVS
  • Cordocentesis
  • None of the above (correct)

    • Which test is used to diagnose single gene disorders in the fetus?

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

    Which test is used to diagnose fetal anaemia?

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

    Which test can be performed at 11 weeks’ gestation?

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

    What is an essential requirement for a diagnostic test in prenatal care?

    <p>Having high sensitivity and specificity</p> Signup and view all the answers

    What is the main purpose of a diagnostic test in prenatal care?

    <p>To confirm or reject suspected disorders</p> Signup and view all the answers

    What is the function of cell free fetal DNA (cffDNA) in prenatal screening?

    <p>To amplify fetal DNA for genotype checking</p> Signup and view all the answers

    What does the presence of aneuploidy signify?

    <p>Loss of a chromosome</p> Signup and view all the answers

    Why is trisomy 21 significant in prenatal care?

    <p>It accounts for approximately half of cases with chromosomal abnormalities</p> Signup and view all the answers

    What happens to the concentration of cffDNA after delivery?

    <p>It drops rapidly and is usually undetectable by the first day after birth</p> Signup and view all the answers

    What is the best test to advise the 40-year-old woman in her 10th week of gestation for early detection of Down's syndrome?

    <p>Combined test between 10th-14th weeks.</p> Signup and view all the answers

    What is the main purpose of Chorion Villus Sampling (CVS)?

    <p>Obtaining rapidly dividing cells from the developing placenta.</p> Signup and view all the answers

    When is Chorion Villus Sampling (CVS) preferred over amniocentesis?

    <p>When parents are carriers of an identifiable gene mutation.</p> Signup and view all the answers

    What is the additional risk of miscarriage associated with Chorion Villus Sampling (CVS)?

    <p>2%</p> Signup and view all the answers

    Which prenatal diagnostic test aims to provide a larger sample of DNA for rapid polymerase chain reaction (PCR) analysis?

    <p>Chorion Villus Sampling (CVS)</p> Signup and view all the answers

    When should an individual consider undergoing karyotyping after a screening test suggests high risk for aneuploidy?

    <p>During the first trimester.</p> Signup and view all the answers

    What is present in the amniotic fluid that is sampled during an amniocentesis procedure?

    <p>Amniocytes and fibroblasts</p> Signup and view all the answers

    What is the approximate timeframe to provide results for common aneuploidies from a CVS sample?

    <p>48 hours</p> Signup and view all the answers

    At what stage of pregnancy can an amniocentesis procedure typically be performed?

    <p>From 15 weeks onward</p> Signup and view all the answers

    In addition to karyotyping, what other tests can be conducted using amniotic fluid?

    <p>Checking for fetal viral infections</p> Signup and view all the answers

    What advantage does CVS have over amniocentesis?

    <p>Can be performed earlier in pregnancy</p> Signup and view all the answers

    When is cordocentesis typically performed?

    <p>When fetal blood is needed</p> Signup and view all the answers

    Which condition is characterized by the sonographic double-bubble sign?

    <p>Duodenal atresia</p> Signup and view all the answers

    Which condition is associated with trisomy 21 in approximately 30% of affected fetuses?

    <p>Duodenal atresia</p> Signup and view all the answers

    In which condition does the bowel herniate through a full-thickness abdominal wall defect to the right of the umbilical cord insertion?

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

    Why is caesarean delivery not usually beneficial for babies with gastroschisis?

    <p>To make it easier for the mother to visit the baby</p> Signup and view all the answers

    Which condition involves the failure of the gut to return into the abdominal cavity after normal embryological extrusion and rotation?

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

    What distinguishes gastroschisis from omphalocele in terms of associations?

    <p>Gastroschisis may be associated with genetic syndromes.</p> Signup and view all the answers

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