Background: The introduction of non-invasive prenatal testing (NIPT) for Down's syndrome into routine state-funded antenatal care in the UK is approaching. Methods: We conducted qualitative one-to-one interviews with 40 pregnant women to ascertain their views on using NIPT for Down's syndrome. Results: The overwhelming majority of women viewed NIPT as a positive advancement in prenatal care, highlighting numerous practical and psychological advantages of a safe test that was highly accurate and could be conducted early in pregnancy. Concerns raised were that testing could become routinised, and that pressure to test might occur with women feeling less justified in declining a blood test that is available and offered by trusted health professionals; the impact on the disabled community and stigma for women who decline testing was also noted. Nevertheless, the vast majority of women said they would be likely to use NIPT, including half of the women who currently decline screening. Women's preference was for pre- and post-test counselling to be delivered by a midwife. Conclusion: The successful introduction of NIPT into routine prenatal care will require guidelines and counselling strategies which ensure women are offered this test in a way which safeguards informed consent.

Keywords:
Aneuploidy, Cell-free fetal DNA, Down’s syndrome, Non-invasive prenatal testing
1.
Nicolaides KH: Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7-15.
2.
Alfirevic Z, Gosden CM, Neilson JP: Chorion villus sampling versus amniocentesis for prenatal diagnosis. Cochrane Database Syst Rev 2000:CD000055.
3.
Tabor A, Alfirevic Z: Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
4.
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS: Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-487.
5.
Lo YM, Hjelm NM, Fidler C, Sargent IL, Murphy MF, Chamberlain PF, Poon PM, Redman CW, Wainscoat JS: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998;339:1734-1738.
6.
Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM: Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 1999;64:218-224.
7.
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM: Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-775.
8.
Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM: Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
9.
Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP: Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042-1049.
10.
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D: Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e1-e11.
11.
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA: DNA sequencing of maternal plasma to detect down syndrome: an international clinical validation study. Genet Med 2011;13:913-920.
12.
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
13.
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G: Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374. e1-6.
14.
The American College of Obstetricians and Gynecologists Committee on Genetics: Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120:1532-1534.
15.
Zamerowski ST, Lumley MA, Arreola RA, Dukes K, Sullivan L: Favorable attitudes toward testing for chromosomal abnormalities via analysis of fetal cells in maternal blood. Genet Med 2001;3:301-309.
16.
Kooij L, Tymstra T, Berg P: The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. Prenat Diagn 2009;29:164-168.
17.
Kelly SE, Farrimond HR: Non-invasive prenatal genetic testing: a study of public attitudes. Public Health Genomics 2012;15:73-81.
18.
Sayres LC, Allyse M, Norton ME, Cho MK: Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 2011;31:1070-1076.
19.
Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE: Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake. Prenat Diagn 2011;31:1292-1299.
20.
Britten N: Qualitative interviews in medical research. BMJ 1995;311:251-253.
21.
Braun V, Clarke V: Using thematic analysis in psychology. Qual Res Psychol 2006;3:77-101.
22.
Lewis C, Hill M, Skirton H, Chitty L: Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective. Eur J Hum Genet 2012;20:1127-1133.
23.
Lewis C, Hill M, Skirton H, Chitty L: Fetal sex determination using cell free fetal DNA: service users' experiences of and preferences for service delivery. Prenat Diagn 2012;32:735-741.
24.
Hill M, Fisher J, Chitty LS, Morris S: Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med 2012;14:905-913.
25.
Benn PA, Chapman AR: Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA 2009;301:2154-2156.
26.
Newson AJ: Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med 2008;13:103-108.
27.
Wertz DC, Fletcher JC: A critique of some feminist challenges to prenatal diagnosis. J Womens Health 1993;2:173-188.
28.
Schmitz D, Netzer C, Henn W: An offer you can't refuse? Ethical implications of non-invasive prenatal diagnosis. Nat Rev Genet 2009;10:515.
29.
de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM: Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 2010;18:272-277.
30.
Hall A, Bostanci A, Wright CF: Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics 2010;13:246-255.
31.
Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS: Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess 2004;8:iii, ix-x, 1-109.
32.
van den Berg M, Timmermans DR, Ten Kate LP, van Vugt JM, van der Wal G: Are pregnant women making informed choices about prenatal screening? Genet Med 2005;7:332-338.
33.
Seror V, Ville Y: Prenatal screening for Down syndrome: women's involvement in decision-making and their attitudes to screening. Prenat Diagn 2009;29:120-128.
34.
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group: Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
35.
van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM: Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ Couns 2009;78:24-28.
36.
Chitty LS, Hill M, White H, Wright D, Morris S: Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol 2012;206:269-275.
37.
Kleinveld JH, van den Berg M, van Eijk JT, van Vugt JM, van der Wal G, Timmermans DR: Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing? Community Genet 2008;11:368-374.
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2013
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