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- Buchanan, James, et al.
(author)
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Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
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In: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
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Journal article (peer-reviewed)abstract
- Objective We conducted a survey-based discrete-choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
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- Martin, Kimberly, et al.
(author)
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Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
- 2023
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In: Prenatal Diagnosis. - 0197-3851 .- 1097-0223. ; 43:13, s. 1574-1580
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Journal article (peer-reviewed)abstract
- Objective: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. Methods: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. Results: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p<0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p<0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P<0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p=0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P<0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p=0.008). Conclusions: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.
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- Spencer, Rebecca N., et al.
(author)
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Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology
- 2022
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In: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 42:1, s. 15-26
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Journal article (peer-reviewed)abstract
- Objective: Adverse event (AE) monitoring is central to assessing therapeutic safety. The lack of a comprehensive framework to define and grade maternal and fetal AEs in pregnancy trials severely limits understanding risks in pregnant women. We created AE terminology to improve safety monitoring for developing pregnancy drugs, devices and interventions. Method: Existing severity grading for pregnant AEs and definitions/indicators of ‘severe’ and ‘life-threatening’ conditions relevant to maternal and fetal clinical trials were identified through a literature search. An international multidisciplinary group identified and filled gaps in definitions and severity grading using Medical Dictionary for Regulatory Activities (MedDRA) terms and severity grading criteria based on Common Terminology Criteria for Adverse Event (CTCAE) generic structure. The draft criteria underwent two rounds of a modified Delphi process with international fetal therapy, obstetric, neonatal, industry experts, patients and patient representatives. Results: Fetal AEs were defined as being diagnosable in utero with potential to harm the fetus, and were integrated into MedDRA. AE severity was graded independently for the pregnant woman and her fetus. Maternal (n = 12) and fetal (n = 19) AE definitions and severity grading criteria were developed and ratified by consensus. Conclusions: This Maternal and Fetal AE Terminology version 1.0 allows systematic consistent AE assessment in pregnancy trials to improve safety.
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- Ternby, Ellen, 1987-, et al.
(author)
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Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study
- 2024
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In: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223.
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Journal article (peer-reviewed)abstract
- ObjectiveTo study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies.MethodData were collected using Q methodology. During January 2020—October 2021, 45 pregnant women in Sweden completed a 50-item Q sort. Statements regarding what is important when receiving information about prenatal screening and diagnosis were prioritized through ranking in a fixed sorting grid on an 11-point scale, from “most important” to “least important.” Socio-demographics and coping styles were surveyed through questionnaires.ResultsThree groups represented different viewpoints on what pregnant women consider important when receiving information about prenatal screening and diagnosis. Factor 1: Stepwise information and decision-making: viewing information and decision-making as a step-by-step process. Factor 2: Decision-making as a continuous process based on couple autonomy: Striving for an informed decision as a couple about tests, test results and conditions screened. Factor 3: As much information as early as possible—the importance of personal autonomy in decision-making: Prioritizing autonomous decision-making based on non-directive information early in the pregnancy.ConclusionThis study highlights the complexities involved when providing information. As shown by the differing viewpoints in this study, pregnant women's informational needs differ, making individual and personalized information preferable.
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- Van der Veeken, Lennart, et al.
(author)
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Neurodevelopmental outcomes in children with isolated congenital diaphragmatic hernia : A systematic review and meta-analysis
- 2022
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In: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 42:3, s. 318-329
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Research review (peer-reviewed)abstract
- Background: Congenital diaphragmatic hernia (CDH) reportedly has neurologic consequences in childhood however little is known about the impact in isolated CDH. Aims: Herein we aimed to describe the risk of neurodevelopmental complications in children born with isolated CDH. Materials & Methods: We systematically reviewed literature for reports on the neurological outcome of infants born with isolated CDH. The primary outcome was neurodevelopmental delay. Secondary outcomes included, motor skills, intelligence, vision, hearing, language and behavior abnormalities. Results: Thirteen out of 87 (15%) studies reported on isolated CDH, including 2624 out of 24,146 children. Neurodevelopmental delay was investigated in four studies and found to be present in 16% (3-34%) of children. This was mainly attributed to motor problems in 13% (2-30%), whereas cognitive dysfunction only in 5% (0-20%) and hearing in 3% (1-7%). One study assessed the effect of fetal surgery. When both isolated and non-isolated children were included, these numbers were higher. Discussion: This systematic review demonstrates that only a minority of studies focused on isolated CDH, with neurodevelopmental delay present in 16% of children born with CDH. Conclusion: To accurately counsel patients, more research should focus on isolated CDH cases and examine children that underwent fetal surgery.
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- van Nisselrooij, Amber E. L., et al.
(author)
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The aorto-left ventricular tunnel from a fetal perspective : Original case series and literature review
- 2022
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In: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:2, s. 267-277
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Research review (peer-reviewed)abstract
- Introduction Aorto-left ventricular tunnel (ALVT) accounts for <0.1% of congenital heart defects. Evidence on the prognosis from a fetal perspective is limited. With this retrospective international case series, we provide information on the outcome of fetuses with ALVT.Methods All members of the Association for European Pediatric and Congenital Cardiology's (AEPC) fetal working group and fetal medicine units worldwide were invited for participation. We observed antenatal parameters, neonatal outcome and postnatal follow-up. Additionally, a systematic search of the literature was performed.Results Twenty fetuses with ALVT were identified in 10 participating centers (2001-2019). Fetal echocardiographic characteristics of ALVT included an increased cardiac-thorax ratio (95%), left ventricular end-diastolic diameter (90%) and a dysplastic aortic valve (90%). Extracardiac malformations were rare (5%). Eight fetuses died at a median gestational age (GA) of 21 + 6 weeks (range, 19-24): all showed signs of hydrops prior to 24 weeks or at autopsy. All others (60%, 12/2) were live-born (median GA 38 + 4, range 37-40), underwent surgery and were alive at last follow up (median 3.2 years, range 0.1-17). The literature reported 22 ALVT fetuses with similar outcome.Conclusions In the absence of fetal hydrops, ALVT carries a good prognosis. Fetuses who survive to 24 weeks without hydrops are likely to have a good outcome.
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- Wright, Stuart J, et al.
(author)
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How do women want to receive information about non-invasive prenatal testing? : Evidence from a discrete choice experiment
- 2022
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In: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:11, s. 1377-1389
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Journal article (peer-reviewed)abstract
- Objective: Non-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.Methods: An online discrete choice experiment (DCE) 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 (RPL) and latent class models.Results: One thousand Swedish women (56% current mothers) aged 18 to 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.Conclusion: Women 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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