Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide

Allyse, Megan; Aypar, Umut; Bonhomme, Natasha; Darilek, Sandra; Dougherty, Michael J.; Farrell, Ruth M.; Grody, Wayne W.; Highsmith, W. Edward; Michie, Marsha; Nuñes, Mark E.; Otto, Laura; Pabst, Rebecca; Palomaki, Glenn E.; Runke, Cassandra; Skotko, Brian G.; Stoll, Katie; Wick, Myra J.

doi:10.1089/jwh.2016.6098

Cited by 10 publications

(7 citation statements)

References 24 publications

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“…Maintaining high levels of informed choice will be very dependent on effective training of health professionals to ensure they can provide up‐to‐date unbiased information and also have the confidence and skills to support parents to discuss prenatal testing options in a way that reflects their patients' values and beliefs. Recent guidelines emphasise the importance of having pretest face‐to‐face conversations with patients about their values regarding termination and pregnancy planning to help direct and personalise counselling as well as ensuring patients are clear that screening and testing are optional . Current research shows it is possible to achieve high levels of informed decision‐making for NIPT, but given the possibility of NIPT as a first line screening test continued research in this area is important.…”

Section: Resultsmentioning

confidence: 99%

Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

2017

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ObjectivesTo assess rates of informed choice among women offered non‐invasive prenatal testing (NIPT) for aneuploidy as part of routine clinical care.MethodsA cross‐sectional survey was conducted across 6 antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing, or no further testing. Pretest counselling was delivered as part of routine care by the local maternity team. Women were given a questionnaire containing a measure of informed choice immediately after pretest counselling.ResultsIn total, 220 of 247 women completed the questionnaire. Seventy‐six percent were judged to have made an informed choice, a significant decline from our previous study (89.0% vs 75.6%; χ2(2) = 20.2, P < .001). Of those making an uninformed choice, 46% had insufficient knowledge, 19% had not deliberated, and 13% had made a value‐inconsistent decision. Multivariate analysis showed women who were highly educated (OR, 4.33; 95% CI, 1.08‐17.36) or had had screening in a previous pregnancy (OR, 0.24; 95% CI, 0.90‐0.65) were significantly more likely to make an informed choice.ConclusionsThe findings highlight the challenges of ensuring informed choice in routine prenatal care where NIPT is not discussed at multiple points, less time is available for counselling, and written consent is not required.

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Section: Resultsmentioning

confidence: 99%

Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

2017

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“…This may lead people to make critical pregnancy decisions without undergoing prenatal diagnosis (103). HCPs are thus reluctant to use biased materials to counsel their patients (9). Moreover, some have expressed concern that even information provided by HCPs themselves is biased, as it focuses primarily on health risks associated with T21 and not on the positive lived experiences of families (103,139).…”

Section: The United Statesmentioning

confidence: 99%

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky

Roy

Haidar

et al. 2021

Annu. Rev. Genom. Hum. Genet.

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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.

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“…Genetic counseling, when practiced ideally, is meant to provide expectant persons with accurate, up-todate, balanced information so that informed decisions could be made. Research from the United States and the Netherlands has demonstrated that sometimes expectant couples feel such counseling falls short-sometimes perceived as biased, incomplete, and outdated [14,15,19,20]. Future research will be necessary in order to understand the synergistic impact that all of these factors have on the overall number of live births with DS.…”

Section: Access To and Coverage Of Prenatal Diagnosis For Down Syndromementioning

confidence: 99%

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021

et al. 2023

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Antenatal screening and diagnostic testing for Down syndrome has greatly advanced over the past 30 years. The goal of this manuscript is to provide a review of the availability and accessibility of prenatal services and selective termination policies across Europe, Australia, New Zealand, and the United States for the period 1990-2021. We collected data from academic peer-reviewed journals, governmental documents, not-for-profit organizations, correspondence with experts, and other online sources without language restrictions. Prenatal screening services from 1990-2021 became increasingly available across countries, enabling expectant couples the opportunity to gain more accurate information earlier in the pregnancy before assuming the risk associated with more invasive techniques like CVS or amniocentesis. Many countries also began adopting prenatal screening as a qualification for prenatal diagnosis. As of 2021, at least 76.9% of countries offered full coverage for diagnostic testing for Down syndrome from government funding. Abortion coverage for a Down syndrome diagnosis was covered fully by government funding in 52.4% of countries in 1990, increasing to 73.8% in 2021. Understanding the changing landscape of prenatal services builds the foundation for future investigation into social policies that affect the prevalence of Down syndrome.

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Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide

Abstract: As the spread of prenatal genetic screening continues, providers will increasingly need to update their practice to accommodate new screening modalities.

Cited by 10 publications

References 24 publications

Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

The Emergence and Global Spread of Noninvasive Prenatal Testing

Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021

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