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.
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Precision Medicine For Your Practice: Prenatal cell-free DNA Screening
Original Publication Date: August 25, 2016
Renewal Date: August 22, 2019
Expiration Date: August 21, 2022
Upon completion of this educational activity, the learner will be able to:
This activity is designed to meet the educational needs of practicing physicians who provide prenatal care.
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 .50 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™, 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 3 out of 5 questions correctly and 4) complete the evaluation.
- Emily Edelman, MS, CGC, Associate Director, Clinical and Continuing Education, The Jackson Laboratory
- Kate Reed, MPH, ScM, CGC, Director, Clinical and Continuing Education, The Jackson Laboratory
- Therese Ingram Nissen, MA, Senior Instructional Designer/Technologist, The Jackson Laboratory
- Sean C. McConnell, PhD, Senior Policy Analyst, Science, Medicine & Public Health, CME Program Committee, AMA
- Laura Nicholson, MD, PhD, Director of Education, Scripps Research Translational Institute
Unless noted, no individuals in control of content reported a conflict of interest.
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.
Bianchi DW and Chiu Rossa WK. Sequencing of circulating cell-free DNA during pregnancy. N Engl J Med. 2018;379;5:464-473.
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;18(10):1056-1065.
Gil MM, Accurti V, Santacruz B, Planna MN, Nicholaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol, 2017; 50(3):302-314.
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. 2017;124(1):32-46.
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.
Palomaki GE and Kloza EM. Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing. Genet Med. 2018;20:1312-1323.
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.
Audio speakers or headphones
Screen resolution of 800X600 or higher
Adobe Reader 5.0 or higher
For best performance in a mobile environment, please download the Canvas Mobile App for IOS and Android.
Should you have technical questions or questions regarding the content of the activity, please email Clinical and Continuing Education at the Jackson Laboratory.
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.