Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort

Talati, Asha N.; Gilmore, Kelly; Hardisty, Emily; Lyerly, Anne Drapkin; Rini, Christine; Vora, Neeta L.

doi:10.1101/2020.08.05.20169029

Cited by 8 publications

(32 citation statements)

References 29 publications

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“…Since our study was the first to offer the possibility of communication of ES UFs during pregnancy, our findings cannot be directly compared to other empirical studies. Talati et al 13 communicated ES UFs for medically actionable secondary findings in a parent and heterozygous variants for the same recessive disorder in both parents, although only after decisions about pregnancy continuation were already made and there was no possibility to opt-out of receiving UFs. Our findings, that most participants pursued ES in the hope of receiving information that could explain the findings in the current pregnancy or guide decision-making for future pregnancies, are in line with Talati et al 13 The studies of Kalynchuck et al 10 and Brew et al 23 further surveyed expectant parents and genetic counselors about their attitude towards the (hypothetical) communication of rES UFs during pregnancy.…”

Section: Discussionmentioning

confidence: 99%

“…Talati et al 13 communicated ES UFs for medically actionable secondary findings in a parent and heterozygous variants for the same recessive disorder in both parents, although only after decisions about pregnancy continuation were already made and there was no possibility to opt-out of receiving UFs. Our findings, that most participants pursued ES in the hope of receiving information that could explain the findings in the current pregnancy or guide decision-making for future pregnancies, are in line with Talati et al 13 The studies of Kalynchuck et al 10 and Brew et al 23 further surveyed expectant parents and genetic counselors about their attitude towards the (hypothetical) communication of rES UFs during pregnancy. Their findings are also comparable to ours: most expectant parents and genetic counselors expressed the wish to have the option to receive UF information about treatable childhood conditions (96% 10 and 93%, 23 respectively) as well as nontreatable childhood conditions (86% 10 and 80%, 23 respectively).…”

Section: Discussionmentioning

confidence: 99%

“…Here we report both 40 (level for healthy population, used by Annema et al 18 ) and 50 (used by Van Schendel et al 19 in a study investigating women's experiences with NIPT) [Colour figure can be viewed at wileyonlinelibrary.com] other studies. 13,22,24 Although the study design does not make it possible to attribute the experienced anxiety to the ultrasound anomalies or to the rES offer and communication of rES results, the severity of the fetal anomalies seem to play a large role. Talati et al (2020) hypothesized that the high levels of anxiety (and the pre-to post-test decrease) might be explained by the (decrease in) mental health burden that accompanies an anomalous pregnancy and the difficult decisions and uncertainty this brings for both current and future pregnancies.…”

Section: F I G U R Ementioning

confidence: 99%

“…The limited time frame in combination with the possibility of receiving uncertain and/or unsought results, may complicate decision-making and raise anxiety. 9 To date, only a few studies have investigated parental attitudes 10 and experiences [11][12][13] regarding prenatal ES. However, these studies did not investigate the impact of the communication of ES results on decision-making during pregnancy, since in these studies ES results were reported back after pregnancy.…”

Section: Introductionmentioning

confidence: 99%

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Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

et al. 2021

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Background: Adding rapid exome sequencing (rES) to conventional genetic tests improves the diagnostic yield of pregnancies showing ultrasound abnormalities but also carries a higher chance of unsolicited findings. We evaluated how rES, including pre-and post-test counseling, was experienced by parents investigating its impact on decision-making and experienced levels of anxiety.Methods: A mixed-methods approach was adopted. Participating couples (n = 46) were asked to fill in two surveys (pre-test and post-test counseling) and 11 couples were approached for an additional interview.Results: All couples accepted the rES test-offer with the most important reason for testing emphasizing their hope of finding an underlying diagnosis that would aid decision-making. The actual impact on decision-making was low, however, since most parents decided to terminate the pregnancy based on the major and multiple fetal ultrasound anomalies and did not wait for their rES results. Anxiety was elevated for most participants and decreased over time. Conclusion:Major congenital anomalies detected on ultrasound seem to have more impact on prenatal parental decision-making and anxiety then the offer and results of rES. However, the impact of rES on reproductive decision-making and experienced anxiety requires further investigation, especially in pregnancies where less (severe) fetal anomalies are detected on ultrasound. Key pointsWhat is already known about this topic? � Adding exome sequencing to conventional prenatal genetic tests improves the diagnostic yield.� Prenatal rapid exome sequencing (rES) with a 2-week turnaround time is feasible.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: F I G U R Ementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

et al. 2021

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“…As prenatal ES is being implemented nationally in England, there is the potential for wide variation in referrals, uptake and diagnostic rates. Research studies considering parent or professional views on prenatal ES largely support offering prenatal sequencing but raise concerns over the potential for increased parental anxiety, informed consent, management of parent expectations, cost, which results to report and when to reinterpret results [14][15][16][17][18][19] . The need for health professional education and new approaches to genetic counselling that support informed choice during a distressing and time-pressured period have also been highlighted 15,18 .…”

Section: Introductionmentioning

confidence: 99%

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service

Hill

Ellard

Fisher³

et al. 2022

NIHR Open Res

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Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies has been implemented nationally in England through the NHS Genomic Medicine Service that is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly improve NHS prenatal diagnostic services by increasing genetic diagnoses and informing prenatal decision-making. Prenatal ES has not previously been offered routinely in a national healthcare system and there are gaps in knowledge and guidance. Methods: We are conducting a mixed-methods evaluation of the NHS prenatal ES service. Study design draws on a framework developed in previous studies of major system innovation and Normalisation Process Theory. There are five interrelated workstreams. Workstream-1 will use interviews and surveys with professionals, non-participant observations and documentary analysis to produce in-depth case studies at all GLHs. Data collection at multiple time points will track changes over time. In Workstream-2 qualitative interviews with parents offered prenatal ES or with previous experience of fetal anomalies will explore experiences and establish information and support needs. Workstream-3 will analyse data from all prenatal ES tests for nine-months to establish service outcomes (e.g. diagnostic yield, referral rates, referral sources). Comparisons between GLHs will identify factors (individual or service-related) associated with any variation in outcomes. Workstream-4 will identify and analyse practical ethical problems. Requirements for an effective ethics framework for an optimal and equitable service will be determined. Workstream-5 will assess costs and cost-effectiveness of prenatal ES versus standard tests and evaluate costs of implementing an optimal prenatal ES care pathway. Integration of findings will determine key features of an optimal care pathway from a service delivery, parent and professional perspective. Discussion: The proposed formative and summative evaluation will inform the evolving prenatal ES service to ensure equity of access, high standards of care and benefits for parents across England.

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A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

Vears

Amor

2022

Prenatal Diagnosis

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As the use of genomic sequencing (GS) in the prenatal setting becomes more widespread, laboratories and clinicians will be tasked with making decisions about whether to offer incidental and secondary findings to expectant parents and, if so, which ones. Unfortunately, few guidelines or position statements issued by professional bodies address the return of secondary findings specifically in the context of prenatal GS, nor do they offer clear guidance on whether, and which types of incidental findings should be reported. Laboratories and clinicians will also need to navigate other challenges, such as how to obtain sufficiently informed consent, workload burdens for both laboratories and clinicians, and funding. Here we discuss these, and other challenges associated with offering incidental and secondary findings in the context of prenatal GS. We outline existing guidelines for return of these findings, prenatally and in children. We review the existing literature on stakeholder perspectives on return of incidental and secondary findings and discuss the main practical and ethical challenges that require consideration. We then propose a framework to help guide decision-making, suggesting a baseline routine analysis, with additional layers of analysis that could be offered, according to local laboratory policy, with additional opt-in consent from the parents. Key points What's already known about this topic?� The use of genomic sequencing (GS) in the prenatal setting is becoming more widespread.� Few guidelines or position statements from professional bodies address returning secondary findings in the context of prenatal GS. What does this review add?� We summarize existing guidelines and literature on the topic.� We discuss practical and ethical challenges that require consideration.� We propose a framework to guide decision-making, suggesting baseline routine analysis, with additional layers of analysis that could be offered, with opt-in parental consent.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort

Cited by 8 publications

References 29 publications

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service

A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

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