Dataset Information

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

ABSTRACT: To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into account. Foetal DNA percentage and coefficient of variation can be given default settings, but actual values should be used if known. We tested the tool on 209 samples from pregnant women undergoing NIPT. For Z-scores??5. Our online tool can assist clinicians in understanding NIPT results and conveying their true clinical implication to pregnant women, because the PPR is crucial for individual counselling and decision-making.

SUBMITTER: Sikkema-Raddatz B

PROVIDER: S-EPMC5137038 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

Sikkema-Raddatz Birgit B Johansson Lennart F LF de Boer Eddy N EN Boon Elles M J EM Suijkerbuijk Ron F RF Bouman Katelijne K Bilardo Catia M CM Swertz Morris A MA Dijkstra Martijn M van Langen Irene M IM Sinke Richard J RJ Te Meerman Gerard J GJ

Scientific reports 20161205

To properly interpret the result of a pregnant woman's non-invasive prenatal test (NIPT), her a priori risk must be taken into account in order to obtain her personalised a posteriori risk (PPR), which more accurately expresses her true likelihood of carrying a foetus with trisomy. Our aim was to develop a tool for laboratories and clinicians to calculate easily the PPR for genome-wide NIPT results, using diploid samples as a control group. The tool takes the a priori risk and Z-score into accou ...[more]

PMID: 27917919

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Project description:BackgroundGenomics-based noninvasive prenatal tests (NIPT) allow screening for chromosomal anomalies such as Down syndrome (trisomy 21). The technique uses cell-free fetal DNA (cffDNA) that circulates in the maternal blood and is detectable from 5 weeks of gestation onwards. Parents who choose to undergo this relatively new test (introduced in 2011) might be aware of its positive features (i.e. clinical safety and ease of use); however, they might be less aware of the required decisions and accompanying internal conflicts following a potential positive test result. To show the evidence on psychological and social consequences of the use of NIPT, we conducted a scoping review.MethodsWe systematically searched four electronic databases (MEDLINE (Ovid), Cochrane Library (Wiley), CINAHL (EBSCO) and PsychINFO (EBSCO)) for studies that investigated the psychological or social consequences of the use of NIPT by pregnant women or expecting parents. The search was limited to studies published between 2011 and August 8, 2018. We identified 2488 studies and, after removal of duplicates, screened 2007 titles and abstracts, and then assessed 99 articles in full text (both screenings were done independently in duplicate). We included 7 studies in our analysis.ResultsFive studies assessed anxiety, psychological distress and/or decisional regret among women with validated psychological tests like the Spielberger State Trait-Anxiety Inventory (STAI), the Pregnancy-Related Anxiety Questionnaire-Revised (PRAQ-R), the Kessler Psychological Distress Scale (K6) or the Decisional Regret Scale (DRS). Two studies assessed women's experiences with and feelings after NIPT in interviews or focus groups. The included studies were heterogeneous in location, study setting, inclusion criteria, outcome assessment, and other characteristics.ConclusionsOnly few studies on psychological consequences of NIPT have been identified. The studies assessed only short-term psychological consequences of NIPT at baseline and/or after receiving the results or after giving birth. Studies show that short term anxiety decreased when women received negative NIPT results and that decisional regret was generally low. We could not identify studies on long term consequences of NIPT, as well as studies on women's partners' short and long term outcomes, nor on social consequences of NIPT.

Project description:BackgroundNon-invasive prenatal testing (NIPT) allows women to access genetic information about their fetuses without the physical risk inherent to prior testing methods. The advent of NIPT technology has led to concerns regarding the quality and process of informed consent, as a view of NIPT as "routine" could impair women's considered approach when choosing to undergo testing. Prior studies evaluating NIPT decision-making have focused on the clinical encounter as the primary environment for acquisition of biomedical information and decision formation. While important, this conceptualization fails to consider how additional sources of knowledge, including embodied and empathetic experiential knowledge, shape perceptions of risk and the societal use of NIPT.MethodsIn order to address this issue, qualitative, semi-structured interviews with 25 women who had been offered NIPT were performed. Participants came from a well-resourced, rural setting near a major academic medical center in the US. Women were categorized by NIPT use/non-use as well as whether their described decision-making process was perceived as making a significant decision requiring contemplation ("significant") versus a rapid or immediate decision ("routinized"). A constructivist general inductive approach was used to explore themes in the data, develop a framework of NIPT decision-making, and compare the perceptions of women with differential decision-making processes and outcomes.ResultsA framework for decision-making regarding NIPT was developed based on three emergent factors: perceptions of the societal use of NIPT, expected emotional impact of genetic information, and perceived utility of genetic information. Analysis revealed that perceptions of widespread use of NIPT, pervasive societal narratives of NIPT use as "forward-thinking," and a perception of information as anxiety-relieving contributed to routinized uptake of NIPT. In contrast, women who displayed a lack of routinization expressed fewer stereotypes regarding the audience for NIPT and relied on communication with their social networks to consider how they might use the information provided by NIPT.ConclusionsThe findings of this study reveal the societal narratives and perceptions that shape differential decision-making regarding NIPT in the U.S.ContextUnderstanding and addressing these perceptions that influence NIPT decision-making, especially routinized uptake of NIPT, is important as the use and scope of this technology increases.

Project description:BackgroundNon-invasive prenatal testing (NIPT) can be used to accurately detect fetal chromosomal anomalies early in pregnancy by assessing cell-free fetal DNA present in maternal blood. The rapid diffusion of NIPT, as well as the ease and simplicity of the test raises concerns around informed decision-making and the potential for routinization. Introducing NIPT in a way that facilitates informed and autonomous decisions is imperative to the ethical application of this technology. We approach this imperative by systematically reviewing and synthesizing primary qualitative research on women's experiences with and preferences for informed decision-making around NIPT.MethodsWe searched multiple bibliographic databases including Ovid MEDLINE, EBSCO Cumulative Index to Nursing & Allied Health Literature (CINAHL), and ISI Web of Science Social Sciences Citation Index (SSCI). Our review was guided by integrative qualitative meta-synthesis, and we used a staged coding process similar to that of grounded theory to conduct our analysis.ResultsThirty empirical primary qualitative research studies were eligible for inclusion. Women preferred to learn about NIPT from their clinicians, but they expressed dissatisfaction with the quality and quantity of information provided during counselling and often sought information from a variety of other sources. Women generally had a good understanding of test characteristics, and the factors of accuracy, physical risk, and test timing were the critical information elements that they used to make informed decisions around NIPT. Women often described NIPT as easy or just another blood test, highlighting threats to informed decision-making such as routinization or a pressure to test.ConclusionsWomen's unique circumstances modulate the information that they value and require most in the context of making an informed decision. Widened availability of trustworthy information about NIPT as well as careful attention to the facilitation of counselling may help facilitate informed decision-making.Trial registrationPROSPERO 2018 CRD42018086261 .

Dataset Information

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

Publications

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

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