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Precision Medicine for Your Practice: Prenatal Cell-free DNA Screening is a Course

Precision Medicine for Your Practice: Prenatal Cell-free DNA Screening

0.75 credits


Full course description

About this Course

Prenatal providers and patients have more options than ever before for testing and screening for fetal aneuploidy, including cell-free DNA screening, also called noninvasive prenatal testing (NIPS or NIPT). While cell-free DNA screening is a powerful tool, it is not the best test for all pregnant women. The technology behind cell-free DNA screening enables high detection rates for Down syndrome and other chromosome conditions, but also confers specific benefits, limitations, and challenges in results interpretation and counseling.

Precision Medicine For Your Practice is a series of short (30 min), online modules covering specific topics in genomics and precision medicine. In this module, Prenatal Cell-free DNA Screening, participants will learn about the benefits and limitations of cell-free DNA screening in prenatal care for the purpose of facilitating patient decision-making. This online module will include five parts: overview information via an animated video; practice cases to facilitate learning-by-doing; and "dig deeper," logistics, and additional resources for those who are interested in more detail.

Already enrolled?   Access the course directly here.

Activity Overview:

Precision Medicine For Your Practice: Prenatal cell-free DNA Screening
Release Date: August 25, 2016
Expiration Date: August 25, 2019

Upon completion of this educational activity, the learner will be able to:

  • Determine whether cell-free DNA screening is appropriate for the patient.
  • Interpret results of cell-free DNA screening in the context of the patient characteristics.

Target Audience
This activity is designed to meet the educational needs of practicing physicians, advanced practice nurses, and physician assistants who provide prenatal care.

Statement of Need
Genetic technology is rapidly expanding, often too quickly for physicians and other health professionals to become familiar with new technologies before their patients inquire about them, and too quickly for adequate evidence regarding the clinical utility of the technologies to be produced. This educational module will assist physicians and health professionals to determine when cell-free DNA screening is appropriate for their patients and how to interpret the results of such testing.

Statement of Competency
This activity is designed to address the following ABMS/ACGME competencies: patient care, medical knowledge, and interpersonal and communication skills.

Accreditation Statement
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Credit Designation Statement
The American Medical Association designates this enduring material for a maximum of .75 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming Your CME Credit
In order to claim AMA PRA Category 1 Credit™ or CNE credit, you must: 1) take the pre-assessment, 2) view the module in its entirety, 3) successfully complete the quiz by answering 2 out of 3 questions correctly and 4) complete the evaluation.
Planning Committee

  • Barry D. Dickinson, PhD, CME Program Committee, AMA
  • Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital
  • Jeanette McCarthy, MPH, PhD, Visiting Associate Professor, Division of Medical Genetics, UCSF School of Medicine
  • James O'Leary, MBA, Chief innovation Officer, Genetic Alliance
  • Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa


  • Barry D. Dickinson, PhD, CME Program Committee, AMA (Content Reviewer)
  • Siobhan Dolan, MD, MPH, Professor of Clinical Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine (Content Consultant)
  • Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Abdallah Elias, MD, Department of Medical Genetics, Shodair Children's Hospital (Content Reviewer)
  • Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory (Author)
  • Katie Johansen Taber, PhD, Principal Policy Analyst, Science and Biotechnology, AMA (Author)
  • Laura Nicholson, Md, PhD, Scripps Translational Science Institute 
  • Colleen Schmitt, MS, CGC, Genetic Counselor, Counsyl (Content Consultant)
  • James O'Leary, MBA, Chief innovation Officer, Genetic Alliance (Content Reviewer)
  • Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory (Author)
  • Suzanna Schott, ScM, CGC, Medical Writer, The Jackson Laboratory (Author)

Disclosure Statement
In order to assure the highest quality of certified CME programming, and to comply with the ACCME Standards for Commercial Support, the AMA requires that all faculty, planners and members of the AMA CME Program Committee disclose relevant financial relationships with any commercial or proprietary entity producing health care goods or services relevant to the content being planned or presented. The following disclosures are provided:

  • Siobhan Dolan, MD, MPH, Stockholder of Sequenom
  • Jeanette McCarthy, PhD, MPH, Consultant to Big Science Media, Omicia, and Precision Medicine Advisors
  • Colleen Schmitt, MS, CGC, Employee of Counsyl, Inc.
  • Suzanna Schott, ScM, CGC, Stockholder of Merck, Amgen, and Teva
  • Janet K. Williams, PhD, RN, FAAN, Stockholder of Pfizer

No other planners or faculty have relevant financial relationships to disclose.

American College of Obstetricians and Gynechologists Committee on Genetics. ACOG Committee Opinion No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 2015;126(3):e31-37.
Benn P, Chapman AR, Erickson K, Defrancesco MS, Wilkins-Haug L, Egan JF, et al. Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing. Prenat Diagn. 2014;34(2):145-152.
Bianchi DW. Pregnancy: Prepare for unexpected prenatal test results. Nature. 2015;522(7554):29-30.
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23(11):1438-1450.
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics . Genet Med 2016; epub ahead of print.
Gil MM, Quezada MS, Revello R, Akolekar R, Nicholaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45(3):249-266.
Haymon L, Simi E, Moyer K, Aufox S, Ouyang DW. Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists. Prenat Diagn 2014;34(5):416-423.
Mackie FL, Hemming K, Allen S, Morris RK, Kilby MD. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG 2016; epub ahead of print May 31.
Musci TJ, Fairbrother G, Batey A, Bruursema J, Struble C, Song K. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn. 2013;33(5):424-428.
National Health Service National Genetics and Genomics Education Centre. NIPD for single gene disorders: A guide for patients and professionals. Published 2014.
Society for Maternal-Fetal Medicine (SMFM) Publications Committee. #36: Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol. 2015;212(6):711-716.
Swaney P, Hardisty E, Sayres L, Wiegand S, Vora N. Attitudes and Knowledge of Maternal-Fetal Medicine Fellows Regarding Noninvasive Prenatal Testing. J Genet Couns. 2015.
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 2016;6:e010002.
Van Lith JM, Faas BH, Bianchi DW. Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk. Prenat Diagn. 2015;35(1):8-14.
Williams J, 3rd, Rad S, Beauchamp S, Ratousi D, Subramaniam V, Farivar S, et al. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. Am J Obstet Gynecol. 2015;213(1):102 e101-106.
Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, et al. National Society of Genetic Counselors practice guideline: Prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013;22(1):4-15.

Hardware/software Requirements
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher 

As of June 4, 2016, we support the following versions of Flash and popular web browsers:

  • Internet Explorer 11 and Edge
  • Chrome 50 and 51
  • Safari 8 and 9
  • Firefox 45 and 46 (Extended Releases are not supported)
  • Flash 20 and 21 (used for recording or viewing audio/video and uploading files)
  • Respondus Lockdown Browser (supporting the latest system requirements)

Operating Systems

  • Windows 7 and newer
  • Mac OSX 10.6 and newer
  • Linux - chromeOS

Mobile Operating System Native App Support

  • iOS 7 and newer
  • Android 4.2 and newer

Should you have questions regarding the content of the activity, please email Kate Reed or call 207.288.6971.

Should you have technical questions, please email Therese Ingram.

All information in Precision Medicine for Your Practice is provided for educational purposes only. This information is not a substitute for clinical guidance or the consultation of a medical professional. Always seek the advice of a qualified health professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in Precision Medicine for Your Practice. Reliance on any information in Precision Medicine for Your Practice is solely at your own risk. The Jackson Laboratory does not endorse or recommend any specific procedures, tests, products, services, health professionals or other information that may be found in Precision Medicine for Your Practice.

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