Advances in Noninvasive Prenatal Testing For Down Syndrome and other Trisomies (Online Course)

(based on 647 customer ratings)

Author: David J. Moffa, PhD, BCLD
Reviewer: Jenny Camele, MT (ASCP)

Recently, the development of more sensitive and specific molecular test methods has moved us closer to replacing invasive prenatal procedures that are currently needed to confirm certain chromosomal abnormalities. This course discusses both the prenatal screening tests that are routinely used today and new molecular methods that offer new hope for noninvasive prenatal testing to diagnose the presence of Down syndrome or other trisomies.

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Continuing Education Credits

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


  • 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.

Customer Ratings

(based on 647 customer ratings)

Course Outline

  • Aneuploidy and Trisomy
      • Aneuploidy and Trisomies
      • Down Syndrome
      • Edwards Syndrome
      • Patau Syndrome
      • Which of the following are true statements?
  • 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
      • True or False: 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...
  • 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
      • Directed DNA Analysis
      • Commercially-Available cfDNA Prenatal Tests for Aneuploidy
      • Which of the following statements are true regarding cell-free fetal DNA (cfDNA) testing? (choose all that apply)
      • Which of the following statements accurately describe the currently available cfDNA prenatal tests 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
      • The American College of Obstetricians and Gynecologists (ACOG) Recommendations
      • Recommendations By Other Organizations
      • Conclusions
  • References
      • References

Additional Information

Level of instruction: Intermediate
Intended Audience: Medical laboratory scientists, medical technologists, and technicians. This course is also appropriate for medical laboratory science students and pathology residents.
Author information:  David Moffa, PhD, has over 30 years of experience in the health care industry as an executive manager, clinical laboratory director, and medical laboratory scientist. He is currently a technical consultant for Kentmere Healthcare, Wilmington, DE, and until his retirement, was the Regional Director for LabCorp, Inc. He holds a PhD in medical biochemistry from the School of Medicine, West Virginia University.
Reviewer information: Prior to her retirement in 2012, Jenny Camele was employed by Laboratory Corporation of America as the manager of customer service operations for the Fairmont West Virginia Region and a Quality Assurance committee member. She holds a Bachelor of Science degree in Medical Technology from West Virginia University.


MPSS sequencing