Advances in Noninvasive Prenatal Testing For Down Syndrome and other Trisomies

Continuing Education Credits

• P.A.C.E.® Contact Hours: 1.5 hour(s)
• Florida Board of Clinical Laboratory Science CE Credit Hours -
  General (Molecular Pathology): 1.5 hour(s)

Objectives

• 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 (cffDNA) and discuss its application as a noninvasive prenatal testing (NIPT) method for trisomy risk assessment.
• Describe various cell-free DNA (cfDNA) tests commercially available for the prenatal assessment of aneuploidy.
• Discuss recommendations and guidelines for the use of NIPT as a screening tool for fetal aneuploidy.

Course Outline

• Aneuploidy and Trisomy
• Aneuploidy and Trisomies
• Down Syndrome
• Edwards Syndrome
• Patau Syndrome
• Sex Chromosome Aneuploidy
• Which of the following are TRUE statements?
• Turner syndrome is a sex chromosomal condition that affects development in males and is the result of the presence of an extra X chromosome.
• Down Syndrome (Trisomy 21)
• Down Syndrome (Trisomy 21)
• Down Syndrome, continued
• Which statements are TRUE regarding Down syndrome?
• Current Screening and Diagnostic Tests for Down Syndrome and other Trisomies
• Screening Tests: Ultrasound
• Screening Tests: Maternal Serum Screening
• Patient Information for Prenatal Maternal Serum Screening
• Laboratory Test Report for Prenatal Screening Panels
• Prenatal Screening Test Panel Interpretation
• Diagnostic Tests Overview
• Diagnostic Tests: CVS and Amniocentesis
• Diagnostic Tests: CVS to Diagnose Confined Placental Mosaicism (CPM)
• Testing Methods Used for CVS and Amniocentesis Samples
• Testing Methods Used for CVS and Amniocentesis Samples, continued
• A definitive diagnosis of Down syndrome involves the identification of the presence of an extra number 21 chromosome.
• Unconjugated estriol (uE3-estriol) and dimeric inhibin A (DIA) are two of the tests that are part of the quadruple prenatal screening panel (quad scre...
• Which statements are true when discussing confined placental mosaicism (CPM)?
• Noninvasive Prenatal Testing (NIPT): Cell-free DNA (cfDNA)
• Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cffDNA)
• Noninvasive Prenatal Testing (NIPT): Cell-free Fetal DNA (cffDNA), continued
• Massively Parallel Sequencing (MPS) and 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 (NIPT) for Aneuploidy
• Commercially-Available cfDNA Prenatal Tests (NIPT) for Aneuploidy, continued
• Commercially-Available cfDNA Prenatal Tests (NIPT) for Aneuploidy, continued
• NIPT Testing Summary
• Which of the following statements are TRUE regarding cell-free fetal DNA (cffDNA) testing?
• Which of the following statements accurately describe the currently-available, commercial cfDNA prenatal tests (NIPT) for fetal aneuploidy?
• The FIRST step in the massively parallel signature sequencing (MPSS) technique involves in vitro cloning of _________on microbeads?
• Updated Recommendations on NIPT For Fetal Aneuploidy
• American College of Obstetricians and Gynecologists (ACOG) Recommendations
• Recommendations by Other Organizations
• Conclusions
• References
• References

Additional Information