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See more courses in: Clinical Chemistry / Urinalysis / Toxicology; Molecular Pathology

Continuing Education Credits

Florida Board of Clinical Laboratory Personnel Credit Hours - General (Molecular Pathology): 1.5 hour(s)
Course number 20-547493, approved through 9/1/2020


  • Define aneuploidy and trisomy and describe the three most common fetal trisomies.
  • Discuss prenatal screening tests and diagnostic tests that are routinely used for detection of Down syndrome and other trisomies.
  • Describe the cell-free fetal DNA test (cfDNA) and discuss its application as a noninvasive prenatal testing (NIPT) method for trisomy risk assessment.
  • List and describe the three major cfDNA tests commercially available.
  • Discuss recommendations and guidelines for the use of NIPT as a screening tool for fetal aneuploidy.

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Course Outline

  • Aneuploidy and Trisomy
      • Aneuploidy and Trisomies
      • Down Syndrome
      • Edwards Syndrome
      • Patau Syndrome
  • Down Syndrome (Trisomy 21)
      • Down Syndrome (Trisomy 21):
      • Down Syndrome, continued
  • Current Screening and Diagnostic Tests for Down Syndrome and other Trisomies
      • Screening Tests: Ultrasound
      • Screening Tests, continued: Maternal Serum Screening
      • Patient Information for Prenatal Maternal Serum Screening
      • Laboratory Test Report for Prenatal Screening Panels
      • Prenatal Screening Test Panel Interpretation
      • Diagnostic Tests
  • Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cfDNA)
      • Noninvasive Prenatal Testing (NIPT) using Cell-free Fetal DNA (cfDNA)
      • Massively Parallel Signature Sequencing (MPSS)
      • Massively Parallel Signature Sequencing (MPSS): Cloning of cDNA Fragments on Microbeads
      • Massively Parallel Signature Sequencing (MPSS): Sequencing Process and Analysis of Sequence Patterns
      • Targeted DNA Analysis
      • Commercially-Available cfDNA Prenatal Tests for Aneuploidy
  • Updated Recommendations on NIPT For Fetal Aneuploidy
      • The American College of Obstetricians and Gynecologists (ACOG) Recommendations
      • Recommendations By Other Organizations
      • Conclusions
  • References
      • References
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