Prenatal Cell-Free DNA Screening (CNE)

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 patients. 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.

To claim credit, follow the steps in the learning path.

CNE Disclosures

Activity Overview
Precision Medicine for Your Practice: Prenatal Cell-Free DNA Screening (CNE)

Original Publication Date: August 31, 2016
Renewal Date: September 14, 2022
Expiration Date: September 14, 2024

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

• Recognize the indications and implications of cell-free DNA screening for the purpose of supporting shared decision-making

Target Audience

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

CNE Approval Statement
The Jackson Laboratory is co-providing this continuing nursing education activity with the American Medical Association and Scripps Health. This nursing continuing professional development activity was approved by the Northeast Multistate Division Education Unit, an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation.

In order to claim credit 1) answer the pre-assessment questions, 2) work through the module content in its entirety, 3) successfully complete the post-assessment answering 4 out of 5 questions correctly and 4) complete the evaluation.  

Nurses are eligible for a maximum of .50 contact hours upon the completion of this activity.

Planning Committee

• Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory
• Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory
• Laura Nicholson, MD, PhD, Director of Research, Graduate Medical Education (GME), Scripps Health
• Kate Reed, MPH, ScM, CGC, Director, Precision Oncology Education, Clinical Education, The Jackson Laboratory
• Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory
• Janet K. Williams, PhD, RN, FAAN, Professor of Nursing, Chair of Behavioral and Social Science Research, University of Iowa

Faculty and Authors

• Emily Edelman, MS, CGC, Director, Clinical Education, The Jackson Laboratory (Author)
• Therese Ingram, MA, Associate Director and Senior Instructional Designer/Technologist, Clinical Education, The Jackson Laboratory (Author)
• Linda Steinmark, MS, CGC, Project Manager, Clinical Education, The Jackson Laboratory (Author)

Subject Matter Experts

• Edward Kloza, MS, CGC, Genetics Consultant, Women & Infants Hospital of Rhode Island (Content Reviewer)
• Nancy C. Rose, MD (Content Reviewer)

Conflict of Interest Disclosure
Unless otherwise noted, the program planners and faculty do not have a financial interest/arrangement or affiliation with any organizations that could be perceived as a real or apparent conflict of interest in the context of the subject of this course. All educational material has been peer-reviewed by external reviewers to assess for bias.

The following disclosures are reported that could be perceived as a real or apparent conflict of interest in the education program:

Janet K. Williams, PhD, RN, FAAN, stockholder of Pfizer. In her role as a planner, Dr. Williams recused herself from all deliberations relating to content related to the commercial entities with which she has a financial interest and is not responsible for reviewing for bias any related content. 

In 2020 Ms. Edelman received salary support through a proposal selected by the American Community Cancer Centers and Pfizer for an education project. In her roles as a planner and author, Ms. Edelman recused herself from all deliberations relating to content related to the commercial entity with which she has financial interest and was not responsible for reviewing for bias any related content. 

Ed Kloza, MS, CGC, received salary support from Perkin Elmer as a researcher validating a novel cfDNA test and coordinating a preeclampsia study. Course materials reviewed by Mr. Kloza were independently reviewed by a non-conflicted reviewer.

References

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet Gynecol. 2020 Oct;136(4):e48-e69. 

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.

Benn P, Rebarber A. Noninvasive prenatal testing in the management of twin pregnancies. Prenat Diagn. 2021 Sep;41(10):1233-1240. 

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.

Caldwell S, Almasri E, Schmidt L, Xu C, Dyr B, Wardrop J, Cacheris P. Not all low fetal fraction cell-free DNA screening failures are at increased risk for aneuploidy. Prenat Diagn. 2021 Oct;41(11):1372-1379.

Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M. Facilitating informed choice about noninvasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women's experiences. BMC Pregnancy Childbirth. 2019 Jan 14;19(1):27.

Cheng Y, Lu X, Tang J, Li J, Sun Y, Wang C, Zhu J. Performance of noninvasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies. Mol Cytogenet. 2021 Jun 30;14(1):32. 

Dyr B, Boomer T, Almasri EA, Wardrop JL, Rafalko J, Chibuk J, McCullough RM. A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory. PLoS One. 2019 Aug 8;14(8):e0220979. 

Farrell RM, Agatisa PK, Michie MM, Greene A, Ford PJ. The personal utility of cfDNA screening: Pregnant patients' experiences with cfDNA screening and views on expanded cfDNA panels. J Genet Couns. 2020 Feb;29(1):88-96.

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.

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.

Harasim T, Neuhann T, Behnecke A, Stampfer M, Holinski-Feder E, Abicht A. Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations. J Clin Med. 2022 Jan 13;11(2):372.

He Y, Wang Y, Li Z, Chen H, Deng J, Huang H, He X, Zeng W, Liu M, Huang B, Chen P. Clinical performance of noninvasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies: A cohort study and a systematic meta-analysis. Acta Obstet Gynecol Scand. 2020 Jun;99(6):731-743. 

Hou Y, Yang J, Qi Y, Guo F, Peng H, Wang D, Wang Y, Luo X, Li Y, Yin A. Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for noninvasive prenatal screening. Hum Genomics. 2019 Dec 4;13(1):62. 

Ji X, Li J, Huang Y, Sung PL, Yuan Y, Liu Q, Chen Y, Ju J, Zhou Y, Huang S, Chen F, Han Y, Yuan W, Fan C, Zhao Q, Wu H, Feng S, Liu W, Li Z, Chen J, Chen M, Yao H, Zeng L, Ma T, Fan S, Zhang J, Yuen KY, Cheng SH, Chik IWS, Liu NT, Zhu J, Lin S, Cao J, Tong S, Shan Z, Li W, Hekmat MR, Garshasbi M, Suela J, Torres Y, Cigudosa JC, Ruiz FJP, Rodríguez L, García M, Bernik J, Traven E, Reš U, Tul N, Tseng CF, Zhao D, Sun L, Pan Q, Shen L, Dai M, Wang Y, Wang J, Yang H, Yin Y, Duan T, Zhu B, Choolani M, Jin X, Chen Y, Mao M. Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests. Genet Med. 2019 Oct;21(10):2293-2302.

La Verde M, De Falco L, Torella A, Savarese G, Savarese P, Ruggiero R, Conte A, Fico V, Torella M, Fico A. Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies. BMC Med Genomics. 2021 Mar 30;14(1):93. 

Mackie FL, Hemming K, Allen S, Morris RK, Kilby MD. The accuracy of cell-free fetal DNA-based noninvasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2017;124(1):32-46.

Palomaki GE, Chiu RWK, Pertile MD, Sistermans EA, Yaron Y, Vermeesch JR, Vora NL, Best RG, Wilkins-Haug L. International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies. Prenat Diagn. 2021 Sep;41(10):1222-1232.

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.

Riggan KA, Gross B, Close S, Weinberg A, Allyse MA. Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences. J Genet Couns. 2021 Oct;30(5):1407-1417.

Skotko BG, Allyse MA, Bajaj K, Best RG, Klugman S, Leach M, Meredith S, Michie M, Stoll K, Gregg AR. Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genet Med. 2019 Oct;21(10):2285-2292.

Stevens B. Impact of Emerging Technologies in Prenatal Genetic Counseling. Cold Spring Harb Perspect Med. 2020 Dec 1;10(12):a036517. 

Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, et al. Accuracy of noninvasive 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.

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Should you have technical questions or questions regarding the content of the activity, please email Clinical and Continuing Education at the Jackson Laboratory.

Disclaimer 
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.