The Emergence and Global Spread of Noninvasive Prenatal Testing

Abstract

Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use. Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.

Experiences of non‐invasive prenatal screening: A survey study

“…1 NIPT has become more readily available in Australia, with a variety of laboratories offering the screen to pregnant people with and without risk factors for fetal abnormalities, and NIPT are now utilised in approximately 25-30% of Australian pregnancies. 2,3 However, healthcare professionals have expressed concern that not all pregnant people who undergo NIPT are appropriately informed. 4 Extant research regarding individual's informed choice relating to NIPT is varied and inconsistent in outcomes globally, with 44-80% of women having good knowledge of NIPT.…”

“…[10][11][12] It is recommended that pre-test counselling regarding NIPT informs patients that testing is elective and is comprised of objective information (eg accuracy of the test, incidental findings). 3,7,[13][14][15] Indeed, a recent Australian study of women highlighted the strongly held value of being provided with complete information about the pros and cons of NIPT. However, considering the provision of pre-test counselling is not monitored in Australia, it is likely that the information provided to women will differ, depending on the professional providing the counselling, impacting informed decision-making.…”

“…NIPT using cell‐free fetal DNA is a newly established screening method for identifying chromosome anomalies through a maternal blood test 1 . NIPT has become more readily available in Australia, with a variety of laboratories offering the screen to pregnant people with and without risk factors for fetal abnormalities, and NIPT are now utilised in approximately 25–30% of Australian pregnancies 2,3 . However, healthcare professionals have expressed concern that not all pregnant people who undergo NIPT are appropriately informed 4 .…”

“…This lack of informed decision‐making is echoed by several international studies, where women have reported to perceive NIPT as routine or necessity in pregnancy care 10–12 . It is recommended that pre‐test counselling regarding NIPT informs patients that testing is elective and is comprised of objective information (eg accuracy of the test, incidental findings) 3,7,13–15 . Indeed, a recent Australian study of women highlighted the strongly held value of being provided with complete information about the pros and cons of NIPT.…”

Comparing Germany and Israel regarding debates on policy-making at the beginning of life: PGD, NIPT and their paths of routinization

“…To further demonstrate and explore the diversity in regulation and moral evaluation in the context of prenatal screening (Asch and Barlevy 2012;Parens and Asch 2000;Reynolds 2003) we focus also on the new technology of non-invasive genetic testing (NIPT; Labonté et al 2019). As NIPT is being introduced globally, its clinical implementation reinvokes various challenges, including the disability critique on prenatal screening, informed choice of women, information overload, and access (Ravitsky et al 2021;Haidar et al 2020;Labonté et al 2019;Griffin et al 2018). While NIPT was criticized by German disability rights groups as well as some health organizations and Christian groups (see later), in Israel there has been no public debate about it.…”