Prenatal Screening and Ultrasonography
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Questions and Answers

What is the purpose of ultrasonography in prenatal screening?

  • To carry out at specific weeks to detect abnormalities or disorders (correct)
  • To perform a biopsy via catheter through the cervix or by transabdominal puncture
  • To measure maternal serum levels of AFP, hCG, and uE3
  • To detect echoes reflecting from organ boundaries and convert them to images on a monitor
  • What does amniocentesis involve?

  • Carrying out genetic screening via maternal serum analysis
  • Inserting a needle through the mother's abdominal wall to withdraw an amniotic fluid sample (correct)
  • Localization of the placenta by ultrasound
  • Performing a biopsy via catheter through the cervix or by transabdominal puncture
  • What is the purpose of syncytiotrophoblast biopsy?

  • To measure maternal serum levels of AFP, hCG, and uE3
  • To be used as a component of screening for fetus trisomy (correct)
  • To detect echoes reflecting from organ boundaries and convert them to images on a monitor
  • To guide a needle insertion through the mother's abdominal wall to withdraw an amniotic fluid sample
  • At what stage of gestation can anencephaly be detected?

    <p>Week 18-20</p> Signup and view all the answers

    What is the risk of miscarriage associated with chorionic villus sampling performed at 10-12 weeks?

    <p>0.5-1%</p> Signup and view all the answers

    What does maternal serum analysis measure during genetic screening?

    <p>Decrease in factor associated with Edward syndrome (Trisomy 18)</p> Signup and view all the answers

    Which type of mutation results in changes to the nucleotide sequence of DNA in somatic cells?

    <p>Point mutation</p> Signup and view all the answers

    What type of mutation occurs when a base substitution changes an amino acid in a protein?

    <p>Nonsense mutation</p> Signup and view all the answers

    What is the effect of a deletion or insertion of one or more nucleotides that does not result in a multiple of 3?

    <p>Change in splicing sequence</p> Signup and view all the answers

    Which type of mutation causes a 'sense' codon to become a 'coding' codon?

    <p>Frame shift mutation</p> Signup and view all the answers

    What is the effect of reciprocal translocation between non-homologous chromosomes?

    <p>Formation of a single, large chromosome with a single centromere</p> Signup and view all the answers

    What causes an acrocentric chromosome to fuse into a single, large chromosome with a single centromere?

    <p>Robertsonian translocation</p> Signup and view all the answers

    What is the effect of duplication of a segment of chromosomes during DNA replication?

    <p>Alteration in gene expression level</p> Signup and view all the answers

    What is the effect of an intrinsic mutation between non-homologous chromosomes?

    <p>Mutational re-arrangement within a chromosome</p> Signup and view all the answers

    What is the effect of radiation or chemical exposure on genetic material?

    <p>Base substitution and breakage of DNA structure</p> Signup and view all the answers

    What is the cause of triploidy (3n) leading to miscarriage in most cases?

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

    What is the effect of inversion leading to decreased binding of transcription factors and RNA polymerase to the promoter?

    <p>Decreased gene expression</p> Signup and view all the answers

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