NIPT: Current utilization and implications for the future of prenatal genetic counseling

Prenatal Diagnosis

Volumn 34, Issue 9, 2014, Pages 850-857

  Buchanan, Amanda ^a,b   Sachs, Amy ^b   Toler, Tomi ^c   Tsipis, Judith ^a  

^a BRANDEIS UNIVERSITY   (United States)

^b TUFTS MEDICAL CENTER   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL PRACTICE; FEMALE; GENETIC COUNSELING; HIGH RISK PREGNANCY; HUMAN; INFORMED CONSENT; MATERNAL BLOOD; NON INVASIVE PRENATAL TESTING; NON INVASIVE PROCEDURE; PRENATAL GENETIC COUNSELING; PRENATAL PERIOD; PRENATAL SCREENING; SCREENING TEST; HEALTH CARE SURVEY; MATERNAL SERUM SCREENING TEST; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; STATISTICS AND NUMERICAL DATA; TRISOMY; UNITED STATES; UTILIZATION;

FEMALE; GENETIC COUNSELING; HEALTH CARE SURVEYS; HUMANS; INFORMED CONSENT; MASSACHUSETTS; MATERNAL SERUM SCREENING TESTS; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY;

EID: 84906944559     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4382     Document Type: Article

References (31)

1. Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. The Lancet 1997;350(9076):485-7.
2. Chiu RW, Sun H, Akolekar R, et al. Maternal plasma DNA analysis with massively parallel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem 2010;56(3):459-63.
3. Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204(3):205 e1-11.
4. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14(3):296-305.
5. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119(5):890-901.
6. Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32(13):1233-41.
7. de Jong A, Dondorp WJ, Frints SG, et al. Advances in prenatal screening: the ethical dimension. Nat Rev Genet 2011;12(9):657-63.
8. Schmitz D, Netzer C, Henn W. An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis. Nat Rev Genet 2009;10(8):515.
9. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn 2013;33(6):542-6.
10. Taylor JB, Chock VY, Hudgins L. NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability. J Genet Counsel. 2013.
11. Sayres LC, Allyse M, Norton ME, et al. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 2011;31(11):1070-6.
12. Hall A, Bostanci A, Wright CF. Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics 2010;13(4):246-55.
13. Benn PA, Chapman AR. Practical and ethical considerations of noninvasive prenatal diagnosis. Jama 2009;301(20):2154-6.
14. King JS. Genetic tests: Politics and fetal diagnostics collide. Nature 2012;491(7422):33-4.
15. Rochman B. Early decision. Will new advances in prenatal testing shrink the ranks of babies with Down syndrome? Time 2012;179(8):36-40.
16. Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med 2008;13(2):103-8.
17. Favre R, Duchange N, Vayssiere C, et al. How important is consent in maternal serum screening for Down syndrome in France? Information and consent evaluation in maternal serum screening for Down syndrome: a French study. Prenat Diagn 2007;27(3):197-205.
18. SequenomInc. Sequenom Center for Molecular Medicine Announces Launch of MaterniT21 Noninvasive Prenatal Test for Down syndrome. Available at: http://sequenom.investorroom.com/index.php?s=43&item=310 2011.
19. AriosaDiagnostics. Ariosa Diagnostics Announces Nationwide Launch of the HarmonyTM Prenatal Test Through LabCorp. Available at: http://www.ariosadx.com/news-and-events/ariosa-lc_launch_120507.pdf 2012.
20. Health V. Verinata Health Announces Presentation and Publication of Top-Line Clinical Validation Study Results for its verifi® Non-Invasive Prenatal Test. Available at: http://www.verinata.com/news/non-invasive-prenatal-test/ 2012.
21. NateraInc. ARUP Laboratories Announces Availability of Natera's Non-Invasive Prenatal Test, Panorama (TM). Available at: http://www.natera.com/assets/files/press/2013/ARUPLabs-Natera-3-18-2013.pdf 2013.
22. ISPD ISfPD. Prenatal Detection of Down Syndrome Using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October. Available at: http://www.ispdhome.org/public/news/2011/ISPD_RapidResponse_MPS_24Oct11.pdf 2011.
23. ACOG. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstet Gynecol 2012;120:1532-4.
24. Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15(5):395-8.
25. National Society of Genetic Counselors. Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD). Available at: http://nsgc.org/p/bl/et/blogid=47&blogaid=33 2012.
26. Schmitz D. A new era in prenatal testing: are we prepared? Med Health Care Philos 2013;16(3):357-64.
27. Deans Z, Newson AJ. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Anal 2011;19(2):122-32.
28. NSGC. 2012 Professional Status Survey.
29. Musci TJ, Fairbrother G, Batey A, et al. Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice. Prenat Diagn 2013;33(5):424-8.
30. van den Heuvel A, Chitty L, Dormandy E, et al. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ Couns 2010;78(1):24-8.
31. SequenomInc. MaterniT21 PLUS. Available at: http://www.sequenomcmm.com/home/health-care-professionals/trisomy-21/ 2012.