Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues - PubMed
Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues
Lindsay Parham et al. Curr Genet Med Rep. 2017 Mar.
Abstract
Purpose of review: In 2011, screening platforms became available in the US that detect and analyze fragments of cell-free placental DNA (cfDNA) in maternal blood serum. Marketed as noninvasive prenatal tests (NIPT), cfDNA screening is more accurate than previously available serum screening tests for certain aneuploidies. The combination of a noninvasive procedure, high specificity and sensitivity, and lower false positive rates for some aneuploidies (most notably Down's syndrome) has led to broad clinician and patient adoption. New ethical, legal, and social issues arise from the increased use and expanded implementation of cfDNA in pregnancy.
Recent findings: Recently, several professional associations have amended their guidelines on cfDNA, removing language recommending its use in only "high-risk" pregnancies in favor of making cfDNA screening an available option for women with "low-risk" pregnancies as well. At the same time, commercial cfDNA screening laboratories continue to expand the range of available test panels. As a result, the future of prenatal screening will likely include a broader range of genetic tests in a wider range of patients.
Summary: This article addresses the ethical, legal, and social issues related to the shift in guidance and expanded use of cfDNA in pregnant women, including concerns regarding routinized testing, an unmet and increasing demand for genetic counseling services, social and economic disparities in access, impact on groups living with disabling conditions, and provider liability.
Keywords: Ethics; Legal issues; NIPT; Prenatal screening; Social issues; cfDNA.
Conflict of interest statement
Conflict of Interest The authors each declare that they have no conflict of interest.
Similar articles
-
Gammon BL, Kraft SA, Michie M, Allyse M. Gammon BL, et al. Ethics Med Public Health. 2016 Jul-Sep;2(3):334-342. doi: 10.1016/j.jemep.2016.07.006. Ethics Med Public Health. 2016. PMID: 28180146 Free PMC article.
-
Hu H, Jiang Y, Zhang M, Liu S, Hao N, Zhou J, Liu J, Zhang X, Ma L. Hu H, et al. Exp Biol Med (Maywood). 2017 Mar;242(5):547-553. doi: 10.1177/1535370216683837. Epub 2017 Jan 5. Exp Biol Med (Maywood). 2017. PMID: 28056555 Free PMC article. Clinical Trial.
-
Lo JO, Cori D F, Norton ME, Caughey AB. Lo JO, et al. Obstet Gynecol Surv. 2014 Feb;69(2):89-99. doi: 10.1097/OGX.0000000000000029. Obstet Gynecol Surv. 2014. PMID: 25112487
-
Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.
Tamminga S, van Maarle M, Henneman L, Oudejans CB, Cornel MC, Sistermans EA. Tamminga S, et al. Adv Clin Chem. 2016;74:63-102. doi: 10.1016/bs.acc.2015.12.004. Epub 2016 Jan 21. Adv Clin Chem. 2016. PMID: 27117661 Review.
-
Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.
Minear MA, Alessi S, Allyse M, Michie M, Chandrasekharan S. Minear MA, et al. Annu Rev Genomics Hum Genet. 2015;16:369-98. doi: 10.1146/annurev-genom-090314-050000. Annu Rev Genomics Hum Genet. 2015. PMID: 26322648 Review.
Cited by
-
Cernat A, De Freitas C, Majid U, Trivedi F, Higgins C, Vanstone M. Cernat A, et al. BMC Pregnancy Childbirth. 2019 Jan 14;19(1):27. doi: 10.1186/s12884-018-2168-4. BMC Pregnancy Childbirth. 2019. PMID: 30642270 Free PMC article.
-
Walker A. Walker A. AJOB Empir Bioeth. 2022 Jul-Sep;13(3):166-178. doi: 10.1080/23294515.2022.2063993. Epub 2022 Apr 18. AJOB Empir Bioeth. 2022. PMID: 35435802 Free PMC article.
-
Supporting Women's Autonomy in Prenatal Testing.
Johnston J, Farrell RM, Parens E. Johnston J, et al. N Engl J Med. 2017 Aug 10;377(6):505-507. doi: 10.1056/NEJMp1703425. N Engl J Med. 2017. PMID: 28792882 Free PMC article. No abstract available.
-
Serafin D, Grabarek BO, Boroń D, Madej A, Cnota W, Czuba B. Serafin D, et al. Int J Environ Res Public Health. 2022 Apr 18;19(8):4914. doi: 10.3390/ijerph19084914. Int J Environ Res Public Health. 2022. PMID: 35457778 Free PMC article. Review.
-
Vanstone M, Cernat A, Nisker J, Schwartz L. Vanstone M, et al. BMC Med Ethics. 2018 Apr 16;19(1):27. doi: 10.1186/s12910-018-0267-4. BMC Med Ethics. 2018. PMID: 29661182 Free PMC article.
References
-
- American College of Obstetricians and Gynecologists (ACOG). Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109(1):217–27. - PubMed
-
- Simpson JLS, Holzgreve W, Driscoll DA. Chapter 10: Genetic counseling and genetic screening. In: Gabbe SG, Niebyl JN, Simpson JLS, Landon ML, Galan HG, Jauniaux EJ, Driscoll DD, editors. Obstetrics: normal and problem pregnancies. Philadelphia: Elsevier/Saunders; 2012b.
-
- Benn PA, Ying J, Beazoglou T, Egan JF. Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results. Prenat Diagn. 2001;21(1):46–51. - PubMed
-
- Cuckle HS, Malone FD, Wright D, Porter TF, Nyberg DA, Comstock CH, et al. Contingent screening for Down syndrome—results from the faster trial. Prenat Diagn. 2008;28(2): 89–94. - PubMed
-
- Simpson JLS, Richards D, Otaño L, Driscoll DA. Chapter 11: Prenatal genetic diagnosis. In: Gabbe SG, Niebyl JN, Simpson JLS, Landon ML, Galan HG, Jauniaux EJ, Driscoll DD, editors. Obstetrics: normal and problem pregnancies. Philadelphia: Elsevier/Saunders; 2012c.
LinkOut - more resources
Full Text Sources
Research Materials