Antenatal Screening for Down Syndrome: The Impact of NIPT

Abstract

Noninvasive prenatal testing (NIPT) is one of the most significant recent technological developments in prenatal testing for Down syndrome. It offers pregnant women an early, safe, highly accurate screening test for Down syndrome. To support informed choice, clinicians must be clear about the limitations of NIPT and that it may not always be the best test for all women in all circumstances. The implementation of NIPT has sparked a debate around the routinisation of a near‐diagnostic test and its potential negative impact on people with Down syndrome and their families. Information that gives a balanced and accurate picture of lives of people with Down syndrome and their families is essential to support decision‐making, as are well‐informed health professionals. The degree to which NIPT will reduce the population of people with Down syndrome and impact on their quality of life is not yet known but must be monitored.

Key Concepts

  • Noninvasive prenatal testing (NIPT) for Down syndrome (trisomy 21) using cell‐free DNA from the placenta in maternal blood has rapidly become available in many parts of the world.
  • NIPT can be carried out reliably from around 9 weeks gestation, carries no risk of miscarriage, has a higher detection rate and lower false positive and negatives rates than existing screening tests but is not yet diagnostic.
  • NIPT can be used as a first‐stage screening test to all pregnant women or as a second‐stage test for women identified as already having a higher chance of an affected pregnancy via other screening tests or maternal age. NIPT is more accurate for women already identified as having a higher chance of an affected pregnancy.
  • Research with pregnant women shows that NIPT is generally viewed positively as an advancement in prenatal care, particularly if offered as a first‐stage screening test.
  • The limitations of the new screening test are less well understood than the benefits, which may impact on the ability of women to make informed choices. Some research suggests that women and health professionals may not consider the decision‐making process for NIPT as important as for tests associated with miscarriage.
  • There are fears, highlighted by campaign groups that the widespread introduction of NIPT will lead to increased terminations and the significant reduction in the number of people with Down syndrome in society.
  • Early evidence suggests that NIPT may not have as great an impact as anticipated on termination rates for Down syndrome as some anticipated in the United Kingdom and the United States, but in some other countries numbers of terminations for Down syndrome have significantly increased. It is as yet too early to ascertain what the impact of NIPT will be in this respect.
  • Efforts to improve informed choice for prenatal screening via information and training for health professionals may be undermined by the lack of high‐quality services for children and adults with Down syndrome, as some women perceive that continuing an affected pregnancy is not a viable option.

Keywords: Down syndrome; noninvasive prenatal testing; informed choice; informed consent; informed decision‐making; prenatal screening

References

Ahmed S, Bryant LD, Tizro Z and Shickle D (2012) Interpretations of informed choice in antenatal screening: a cross‐cultural, Q‐methodology study. Social Science & Medicine 74 (7): 997–1004.

Allyse M, Minear MA, Berson E, et al. (2015) Non‐invasive prenatal testing: a review of international implementation and challenges. International Journal of Women's Health 7: 113.

Barter B, Hastings RP, Williams R and Huws JC (2017) Perceptions and discourses relating to genetic testing: interviews with people with Down syndrome. Journal of Applied Research in Intellectual Disabilities 30 (2): 395–406.

Bekker HL, Legare F, Stacey D, O'Connor A and Lemyre L (2003) Is anxiety a suitable measure of decision aid effectiveness: a systematic review? Patient Education and Counseling 50 (3): 255–262.

Best KE, Glinianaia SV, Lingam R, Morris JK and Rankin J (2018) Projected number of children with isolated spina bifida or Down syndrome in England and Wales by 2020. European Journal of Medical Genetics 61 (9): 539–545.

Biesecker BB (2019) The psychological well‐being of pregnant women undergoing prenatal testing and screening: a narrative literature review. Hastings Center Report 49: S53–S60.

Bryant LD (2017a) Biopsychosocial factors in prenatal screening and diagnosis for fetal anomaly. In: Edozien L and O'Brien P (eds) Biopsychosocial Factors in Obstetrics and Gynaecology, pp 237–244. Cambridge University Press: Cambridge.

Bryant LD (2017b) Ethical issues of noninvasive prenatal testing for down syndrome. In: eLS. John Wiley & Sons, Ltd.

Bryant LD, Green JM and Hewison J (2010) The role of attitudes towards the targets of behaviour in predicting and informing prenatal testing choices. Psychology and Health 25 (10): 1175–1194.

Bryant LD, Murray J, Green JM, et al. (2001) Descriptive information about Down syndrome: a content analysis of serum screening leaflets. Prenatal Diagnosis 21: 1057–1063.

Bryant LD, Puri SC, Dix L and Ahmed S (2016) Tell it right, start it right: an evaluation of training for health professionals about Down syndrome. British Journal of Midwifery 24 (2): 110–117.

Burton‐Jeangros C, Cavalli S, Gouilhers S and Hammer R (2013) Between tolerable uncertainty and unacceptable risks: how health professionals and pregnant women think about the probabilities generated by prenatal screening. Health, Risk & Society 15 (2): 144–161.

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

Chandrasekharan S, Minear MA, Hung A and Allyse MA (2014) Noninvasive prenatal testing goes global. Science Translational Medicine 6 (231): 231fs215.

Chitty LS, Wright D, Hill M, et al. (2016) Uptake, outcomes, and costs of implementing non‐invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ 354: i3426.

Cuckle H, Benn P and Pergament E (2015) Cell‐free DNA screening for fetal aneuploidy as a clinical service. Clinical Biochemistry 48 (15): 932–941.

Dane AC, Peterson M and Miller YD (2018) Talking points: women's information needs for informed decision‐making about noninvasive prenatal testing for Down syndrome. Journal of Genetic Counseling 27 (5): 1258–1264.

Gregg AR, Van den Veyver IB, Gross SJ, et al. (2014) Noninvasive prenatal screening by next‐generation sequencing. Annual Review of Genomics and Human Genetics 15: 327–347.

Henderson J and Redshaw M (2017) Change over time in women's views and experiences of maternity care in England, 1995–2014: a comparison using survey data. Midwifery 44: 35–40.

Hill M, Barrett A, Choolani M, et al. (2017) Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome? Prenatal Diagnosis 37 (13): 1281–1290.

Horridge KA, Dew R, Chatelin A, et al. (2019) Austerity and families with disabled children: a European survey. Developmental Medicine & Child Neurology 61 (3): 329–336.

Kamenova K, Ravitsky V, McMullin S and Caulfield T (2016) Media portrayal of non‐invasive prenatal testing: a missing ethical dimension. Journal of Science Communication 15 (A03): 1–19.

Kater‐Kuipers A, De Beaufort ID, Galjaard R‐JH and Bunnik EM (2018) Ethics of routine: a critical analysis of the concept of ‘routinisation’ in prenatal screening. Journal of Medical Ethics 44 (9): 626–631.

Lewis C, Hill M and Chitty LS (2017) Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained? Prenatal Diagnosis 37 (11): 1130–1137.

Lloyd C, Pearson, A. and NHS Fetal Anomaly Screening Programme. (2019). Language matters, especially if you're a health professional talking to parents‐to‐be https://phescreening.blog.gov.uk/2019/06/04/language‐matters‐especially‐if‐youre‐a‐health‐professional‐talking‐to‐parents‐to‐be (accessed 11 July 2019).

Lou S, Petersen OB, Jørgensen FS, et al. (2018) National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark. Acta Obstetricia et Gynecologica Scandinavica 97 (2): 195–203.

Nuffield Council on Bioethics (2017) Non‐Invasive Prenatal Testing: Ethical Issues. Nuffield Council on Bioethics: London.

Reinders J, Stainton T and Parmenter TR (2019) The quiet progress of the new eugenics. Ending the lives of persons with intellectual and developmental disabilities for reasons of presumed poor quality of life. Journal of Policy and Practice in Intellectual Disabilities 16 (2): 99–112.

Seror V, L'Haridon O, Bussières L, et al. (2019) Women's attitudes toward invasive and noninvasive testing when facing a high risk of fetal Down syndrome. JAMA Network Open 2 (3): e191062.

Skirton H, Goldsmith L, Jackson L, Lewis C and Chitty LS (2015) Non‐invasive prenatal testing for aneuploidy: a systematic review of internet advertising to potential users by commercial companies and private health providers. Prenatal Diagnosis 35 (12): 1167–1175.

Smith M, Lewis KM, Holmes A and Visootsak J (2014) A case of false negative NIPT for Down syndrome‐lessons learned. Case Reports in Genetics 2014.

Stephenson N, McLeod K and Mills C (2016) Ambiguous encounters, uncertain foetuses: women's experiences of obstetric ultrasound. Feminist Review 113 (1): 17–33.

Taylor‐Phillips S, Freeman K, Geppert J, et al. (2016) 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 6 (1): e010002.

Thomas GM (2016) An elephant in the consultation room? Configuring Down syndrome in British antenatal care. Medical Anthropology Quarterly 30 (2): 238–258.

UK Supreme Court (2015). Montgomery v Lanarkshire Health Board [2015] UKSC 11 (Montgomery).

Ukuhor HO, Hirst J, Closs SJ and Montelpare WJ (2017) A framework for describing the influence of service organisation and delivery on participation in fetal anomaly screening in England. Journal of Pregnancy 2017 (3): 1–13.

van Bruggen MJ, Henneman L and Timmermans DRJM (2018) Women's decision making regarding prenatal screening for fetal aneuploidy: a qualitative comparison between 2003 and 2016. Midwifery 64: 93–100.

van den Heuvel A, Chitty L, Dormandy E, et al. (2010) Will the introduction of non‐invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Education and Counseling 78 (1): 24–28.

Van Lith JM, Faas BH and Bianchi DW (2015) Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk. Prenatal Diagnosis 35 (1): 8–14.

Wald NJ, Huttly WJ, Bestwick JP, et al. (2018) Prenatal reflex DNA screening for trisomies 21, 18, and 13. Genetics in Medicine 20 (8): 825.

Walker C‐L (2018) Response to Wald et al. Genetics in Medicine 20 (10): 1296.

Warsof SL, Larion S and Abuhamad AZ (2015) Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenatal Diagnosis 35 (10): 972–979.

Wax JR, Chard R, Cartin A, et al. (2015) Noninvasive prenatal testing: the importance of pretest trisomy risk and posttest predictive values. American Journal of Obstetrics & Gynecology 212 (4): 548–549.

Willems P, Dierickx H, Vandenakker E, et al. (2014) The first 3,000 non‐invasive prenatal tests (NIPT) with the harmony test in Belgium and the Netherlands. Facts, Views & Vision in ObGyn 6 (1): 7.

Wise J (2016) The end of Down's syndrome? BMJ 355: i5344.

Wright D, Syngelaki A, Bradbury I, Akolekar R and Nicolaides K (2014) First‐trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagnosis and Therapy 35 (2): 118–126.

Yaron Y (2016) The implications of non‐invasive prenatal testing failures: a review of an under‐discussed phenomenon. Prenatal Diagnosis 36 (5): 391–396.

Further Reading

Hewison J, Bryant LD and Fisher J (2020) Conveying information about screening and diagnosis. In: Pandya P, Oepkes D, Sebire N and Wapner R (eds) Fetal Medicine E‐Book: Basic Science and Clinical Practice, p 154–160. Elsevier: London.

Malli MA, Sams L, Forrester‐Jones R, Murphy G and Henwood M (2018) Austerity and the lives of people with learning disabilities. A thematic synthesis of current literature. Disability & Society 33 (9): 1412–1435.

Patterson D and Lott IT (2011) Down syndrome. In: eLS. John Wiley & Sons, Ltd.

Thomas GM (2017) Down's Syndrome Screening and Reproductive Politics: Care, Choice, and Disability in the Prenatal Clinic. Routledge.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Bryant, Louise D(Nov 2019) Antenatal Screening for Down Syndrome: The Impact of NIPT. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0028658]