Advances in Noninvasive Prenatal Testing For Down Syndrome and other Trisomies

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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.

Continuing Education Credits


  • 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) using 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 for Aneuploidy
      • Commercially-Available cfDNA Prenatal Tests for Aneuploidy, continued
      • Commercially-Available cfDNA Prenatal Tests 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 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

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.

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This course is part of:
MPSS sequencing
110220 Trisomies cover 4