Cell-Free Fetal DNA Testing and Diagnostic Tests for High-Risk Conditions
30 Questions
0 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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

Which test is used to diagnose fetal anaemia?

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

Which test can be performed at 11 weeks’ gestation?

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

What does the presence of aneuploidy signify?

<p>Loss of a chromosome (B)</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 (A)</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 (B)</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. (B)</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. (E)</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. (C)</p> Signup and view all the answers

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

<p>2% (B)</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) (C)</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. (B)</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 (D)</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 (C)</p> Signup and view all the answers

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

<p>From 15 weeks onward (C)</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 (B)</p> Signup and view all the answers

What advantage does CVS have over amniocentesis?

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

When is cordocentesis typically performed?

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

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

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

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

<p>Duodenal atresia (C)</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 (B)</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 (A)</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 (C)</p> Signup and view all the answers

What distinguishes gastroschisis from omphalocele in terms of associations?

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

More Like This

Use Quizgecko on...
Browser
Browser