"Don't Want No Risk and Don't Want No Problems": Public Understandings of the Risks and Benefits of Non-Invasive Prenatal Testing in the United States.
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ABSTRACT:
SUBMITTER: Allyse M
PROVIDER: S-EPMC4410992 | biostudies-other | 2015
REPOSITORIES: biostudies-other
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Project description:ObjectiveNon-invasive prenatal testing (NIPT) identifies the risk of abnormalities in pregnancy, potentially reducing the risk of miscarriage associated with invasive tests. This study aimed to understand the preferences of current and future mothers about the content, format and timing of information provision about NIPT.MethodsAn online discrete choice experiment was designed comprising four attributes: when in the pregnancy information is provided (4 levels); degree of detail (2 levels); information format (6 levels); cost to women for gathering information (5 levels). Respondents included women identified by an online-panel company in Sweden. The mathematical design was informed by D-efficient criteria. Choice data were analysed using uncorrelated random parameters logit and latent class models.ResultsOne thousand Swedish women (56% current mothers) aged 18-45 years completed the survey. On average, women preferred extensive information provided at/before 9 weeks of pregnancy. There was heterogeneity in preferences about the desired format of information provision (website, mobile app or individual discussion with a midwife) in the population.ConclusionWomen had clear preferences about the desired content, format and timing of information provision about NIPT. It is important to tailor information provision to enable informed choices about NIPT.
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Project description:Importance: Ascertaining preferences for SARS-CoV-2 testing and incorporating findings into the design and implementation of strategies for delivering testing services may enhance testing uptake and engagement, a prerequisite to reducing onward transmission. Objective: To determine important drivers of decisions to obtain a SARS-CoV-2 test in the context of increasing community transmission. Design : A discrete choice experiment (DCE) was used to assess the relative importance of type of SARS-CoV-2 test, specimen type, testing venue, and results turnaround time. Uptake of an optimized testing scenario was simulated relative to the current typical testing scenario of polymerase chain reaction (PCR) via nasopharyngeal (NP) swab in a provider office or urgent care clinic with results in >5 days. Setting: Online survey, embedded in an existing cohort study, conducted during July 30 - September 8, 2020. Participants: Participants (n=4,793) were enrolled in the CHASING COVID Cohort Study, a national longitudinal cohort of adults >18 years residing in the 50 US states, Washington, DC, Puerto Rico, or Guam. Main Outcome(s) and Measure(s): Relative importance of SARS-CoV-2 testing method attributes, utilities of specific attribute levels, and probability of choosing a testing scenario based on preferences estimated from the DCE, the current typical testing option, or choosing not to test. Results: Turnaround time for test results had the highest relative importance (30.4%), followed by test type (28.3%), specimen type (26.2%), and venue (15.0%). Participants preferred fast results on both past and current infection and using a noninvasive specimen, preferably collected at home. Simulations suggested that providing immediate or same day test results, providing both PCR and serology, or collecting oral specimens would substantially increase testing uptake over the current typical testing option. Simulated uptake of a hypothetical testing scenario of PCR and serology via a saliva sample at a pharmacy with same day results was 97.7%, compared to 0.6% for the current typical testing scenario, with 1.8% opting for no test. Conclusions and Relevance: Testing strategies that offer both PCR and serology with non-invasive methods and rapid turnaround time would likely have the most uptake and engagement among residents in communities with increasing community transmission of SARS-CoV-2.
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Project description:Understanding public perceptions about environmental health hazards, exposures, and health impacts can help environmental public health practitioners to target and prioritize community activities, policy needs, and communication strategies. The online cross-sectional 2013 summer wave of the ConsumerStyles survey sampled U.S. adults and used questions from the Centers for Disease Control's Environmental Public Health Tracking Program to measure public awareness of governmental efforts to track environmental exposures and links to health impacts, as well as perceptions of environmental health issues. Unadjusted and adjusted logistic regressions examined the associations between demographic characteristics and level of awareness of government environmental public health efforts or level of concern about health risks associated with environmental pollutants. Responses were received from 4033 participants, yielding a response rate of 66.0%. More than half of respondents (57.8%) noted concerns about health risks from environmental pollutants. More than one-third (40.0%) of respondents reported awareness of government efforts. Nearly 40% of respondents felt that none of the health impacts listed in the survey were related to environmental issues. Multiple logistic regression models showed that non-Hispanic blacks, other races, females, people with a college or higher education, and people living in the Midwest or South regions were more likely than their counterparts to be concerned about how the environment affects their health. Future work should focus on improving risk communication, filling the information gap on environmental health issues, and understanding how perceptions change over time.
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Project description:Plasma cryopreservation is unavoidable in China, due to technical specifications requiring storage of additional plasma at -80 degrees for three years. However, the effect of freezing on non-invasive prenatal testing (NIPT) is still uncertain. We collected 144 euploid pregnant samples, 22 on trisomy 21, 4 on trisomy 13, and 3 on trisomy 18, by massively parallel sequencing before and after freezing. Compared with the success rate of 100% of fresh samples, the detection success rates of trisomy 21, trisomy 13 and euploidy in frozen samples by NIPT were 95.45%, 75% and 95.14%, respectively. Of these, 9 cases of frozen sample sequencing failed, with 8 cases being due to high GC content. The chromosome 21 (chr21) z-value of the frozen trisomy 21 samples was lower than that of fresh samples. Meanwhile, freezing reduced the male positive foetal cell-free DNA (cfDNA) fraction, which was accompanied by an increase in the Unimap-GC level in the massively parallel sequencing data and a decrease in the Unique reads/Total reads ratio. Laboratory freezing reduced the chr21 z-value of foetal trisomy 21, which can be explained by a reduction in the foetal cfDNA fraction and effective Unique reads for NIPT analysis. The Unimap-GC content of the serum samples after freezing was higher, which can lead to failure of NIPT detection.
| S-EPMC6502861 | biostudies-literature
Project description:ObjectiveNon-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test (IPD). The objective of this study was to understand the acceptance of NIPT and the utility of NIPT to mitigate concerns about IPD in the US high-risk pregnancy management.Design and settingThis was a retrospective observational research using healthcare records obtained from an academic healthcare system in the US. The study consisted of site-level longitudinal analysis and patient-level cross-sectional analysis.ParticipantA total of 5660 new high-risk pregnancies with age ≥35 years were identified for the longitudinal trend analysis. Cross-sectional utility assessment included 2057 pregnant women.Exposure and outcome measuresLongitudinal trends of NIPT order, IPD procedure and the number of patients diagnosed with high-risk pregnancy were descriptively summarised. In the cross-sectional assessment, we tested the association between the use of NIPT and IPD using multivariable regression.ResultsThe rate of increase in the NIPT use exceeded the changes in the number of high-risk pregnancies with age ≥35 years, while the number of annual IPD procedures has fluctuated without specific trends. There was no significant association between the numbers of NIPT and IPD with the adjusted ORs between 0.90 and 1.14 (p>0.1). The order of NIPT was not selected as an independent variable predicting the use of IPD. Clinical characteristics indicating low socioeconomic status and limited healthcare coverage are associated with less use of NIPT and lower clinical utility.ConclusionAlthough prenatal care accepted NIPT over the last decade, the utility of NIPT in mitigating concerns on IPD is unclear and needs further investigation. Limited clinical utility should be addressed in the context of disparity in prenatal care.
| S-EPMC9204434 | biostudies-literature
Project description:Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.
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Project description:Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the outputs are calls for aneuploidy, including trisomies 13, 18, 21 and monosomy X as well as fetal sex. RAPIDR has been extensively tested with a large sample set as part of the RAPID project in the UK. The package contains quality control steps to make it robust for use in the clinical setting.RAPIDR is implemented in R and can be freely downloaded via CRAN from here: http://cran.r-project.org/web/packages/RAPIDR/index.html.kitty.lo@ucl.ac.ukSupplementary data are available at Bioinformatics online.
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Project description:Non-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin pregnancies. Here, we present an accurate sex prediction model to discriminate fetal sex in both dichorionic diamniotic (DCDA) and monochorionic diamniotic/monochorionic monoamniotic (MCDA/MCMA) twin pregnancies. A retrospective analysis was performed using a total of 198 twin pregnancies with documented sex. The prediction was based on a multinomial logistic regression using the normalized frequency of X and Y chromosomes, and fetal fraction estimation. A second-step regression analysis was applied when one or both twins were predicted to be male. The model determines fetal sex with 100% sensitivity and specificity when both twins are female, and with 98% sensitivity and 95% specificity when a male is present. Since sex determination can be clinically important, implementing fetal sex determination in twins will improve overall twin pregnancies management.
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Project description:Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public's perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in 1 of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that the adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public's views and preferences to inform the delivery of a gNBS program in the Australian context.
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Project description:Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples. Therefore, we have developed three algorithms to improve sensitivity and specificity: the chi-squared-based variation reduction (χ2VR), the regression-based Z-score (RBZ) and the Match QC score. The χ2VR reduces variability in sequence read counts per chromosome between samples, the RBZ allows for more precise trisomy prediction, and the Match QC score shows if the control group used is representative for a specific sample. We compared the performance of χ2VR to that of existing variation reduction algorithms (peak and GC correction) and that of RBZ to trisomy prediction algorithms (standard Z-score, normalized chromosome value and median-absolute-deviation-based Z-score). χ2VR and the RBZ both reduce variability more than existing methods, and thereby increase the sensitivity of the NIPT analysis. We found the optimal combination of algorithms was to use both GC correction and χ2VR for pre-processing and to use RBZ as the trisomy prediction method.
| S-EPMC5431782 | biostudies-literature