Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?

Abstract Background Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the...

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Autores principales:	Ruth M. Farrell, Madelyn Pierce, Christina Collart, Meng Yao, Marissa Coleridge, Edward K. Chien, Susannah S. Rose, Mary Lintel, Uma Perni, Brownsyne Tucker Edmonds
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Prenatal aneuploidy screening Prenatal carrier screening Decision-making Patient education Genomics Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/dbb2d6cf7812406a8b3f093caefb92e8
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spelling	oai:doaj.org-article:dbb2d6cf7812406a8b3f093caefb92e82021-12-05T12:20:49ZDecision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?10.1186/s12884-021-04282-71471-2393https://doaj.org/article/dbb2d6cf7812406a8b3f093caefb92e82021-12-01T00:00:00Zhttps://doi.org/10.1186/s12884-021-04282-7https://doaj.org/toc/1471-2393Abstract Background Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS. Methods A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process. Results Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions. Conclusion Patients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.Ruth M. FarrellMadelyn PierceChristina CollartMeng YaoMarissa ColeridgeEdward K. ChienSusannah S. RoseMary LintelUma PerniBrownsyne Tucker EdmondsBMCarticlePrenatal aneuploidy screeningPrenatal carrier screeningDecision-makingPatient educationGenomicsGynecology and obstetricsRG1-991ENBMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Prenatal aneuploidy screening Prenatal carrier screening Decision-making Patient education Genomics Gynecology and obstetrics RG1-991
spellingShingle	Prenatal aneuploidy screening Prenatal carrier screening Decision-making Patient education Genomics Gynecology and obstetrics RG1-991 Ruth M. Farrell Madelyn Pierce Christina Collart Meng Yao Marissa Coleridge Edward K. Chien Susannah S. Rose Mary Lintel Uma Perni Brownsyne Tucker Edmonds Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
description	Abstract Background Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS. Methods A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process. Results Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions. Conclusion Patients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.
format	article
author	Ruth M. Farrell Madelyn Pierce Christina Collart Meng Yao Marissa Coleridge Edward K. Chien Susannah S. Rose Mary Lintel Uma Perni Brownsyne Tucker Edmonds
author_facet	Ruth M. Farrell Madelyn Pierce Christina Collart Meng Yao Marissa Coleridge Edward K. Chien Susannah S. Rose Mary Lintel Uma Perni Brownsyne Tucker Edmonds
author_sort	Ruth M. Farrell
title	Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
title_short	Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
title_full	Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
title_fullStr	Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
title_full_unstemmed	Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
title_sort	decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?
publisher	BMC
publishDate	2021
url	https://doaj.org/article/dbb2d6cf7812406a8b3f093caefb92e8
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Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?

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