Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis

Avram, Carmen M.; Caughey, Aaron B.; Norton, Mary E.; Sparks, Teresa N.

doi:10.1016/j.ajogmf.2022.100724

Cited by 4 publications

(17 citation statements)

References 46 publications

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“…In addition, from the health system, provider and social perspectives, nine studies, 15,16,20,21,26–29,43 three studies, 14,22,38 and five studies 20,40,41,45,47 were performed, respectively. Seven studies were performed on the lifetime time horizon 15–18,24,40,47 . In addition, a number of studies were conducted in the time horizons of 1 year ( n = 5), 2,23,27,29,31 2 years ( n = 1), 45 3 years ( n = 3), 30,32,44 5 years ( n = 1), 26 18 years ( n = 1), 21 20 years ( n = 1), 37 25 years ( n = 2), 20,48 30 years ( n = 1), 28 437 days ( n = 1), 39 and 1315 days ( n = 1) 14 .…”

Section: Resultsmentioning

confidence: 99%

“…The mean quality score of the included studies was calculated to be 0.78 (after excluding low‐quality studies). As shown in Table S2, 19 studies received scores above 75, falling into the category of high‐quality studies 2,15,17,18,20,21,24,26–29,32,33,42,43,46–48 . Fifteen studies scored between 51–74 (medium quality) 14,19,22,25,30,34–37,39,41,44,45 .…”

Section: Resultsmentioning

confidence: 99%

“…Table S3 shows the cost‐effectiveness findings of new generation sequencing techniques in the diagnosis of genetic diseases. Nineteen cost‐effectiveness studies of NGS techniques in the diagnosis of genetic disorders in pediatrics were conducted 14,20–23,25–27,29,36–39,41–44,47 . Table 2 shows the population of these studies.…”

Section: Resultsmentioning

confidence: 99%

“…Based on a decision analysis model comparing exome sequencing versus targeted gene panels for prenatal diagnosis of fetal effusions and nonimmune hydrops fetalis over a lifetime horizon in the United States, exome sequencing alone was the dominant strategy (lower cost and higher quality) among women younger than 18, 18–22 weeks, and more than 22 weeks of gestation. In addition, targeted genetic panels and exome sequencing were more cost‐effective than no additional genetic testing 47 …”

Section: Resultsmentioning

confidence: 99%

“…Most studies were performed in Australia (n = 13). 21,23,25,27,28,33,[36][37][38][39]42,44,46 In addition, nine studies were done in the United States, 17,18,20,24,26,31,35,40,47 five studies in Canada, 22,30,32,45,48 and three studies in England 2,29,40 ; also, one study was conducted in the Netherlands, 43 Norway, 15 China, 19 Thailand, 34 Israel, 41 Iran, 16 and Finland. 14 Eleven studies were done from the payer perspective.…”

Section: Study Characteristicsmentioning

confidence: 99%

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Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

et al. 2023

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In recent years, massively parallel sequencing or next generation sequencing (NGS) has considerably changed both the research and diagnostic fields, and rapid developments have led to the combination of NGS techniques in clinical practice, ease of analysis, and detection of genetic mutations. This article aimed at reviewing the economic evaluation studies of the NGS techniques in the diagnosis of genetic diseases. In this systematic review, scientific databases (PubMed, EMBASE, Web of Science, Cochrane, Scopus, and CEA registry) were searched from 2005 to 2022 to identify the related literature on the economic evaluation of NGS techniques in the diagnosis of genetic diseases. Full-text reviews and data extraction were all performed by two independent researchers. The quality of all the articles included in this study was evaluated using the Checklist of Quality of Health Economic Studies (QHES). Out of 20 521 screened abstracts, 36 studies met the inclusion criteria. The mean score of the QHES checklist for the studies was 0.78 (high quality). Seventeen studies were conducted based on modeling. Costeffectiveness analysis, cost-utility analysis, and cost-minimization analysis were done in 26 studies, 13 studies, and 1 study, respectively. Based on the available evidence and

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

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Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

et al. 2023

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A Systematic Review of Methods and Practice for Integrating Maternal, Fetal, and Child Health Outcomes, and Family Spillover Effects into Cost-Utility Analyses

Lamsal,

Yeh,

Pullenayegum

et al. 2024

PharmacoEconomics

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Background Maternal-perinatal interventions delivered during pregnancy or childbirth have unique characteristics that impact the health-related quality of life (HRQoL) of the mother, fetus, and newborn child. However, maternal-perinatal cost-utility analyses (CUAs) often only consider either maternal or child health outcomes. Challenges include, but are not limited to, measuring fetal, newborn, and infant health outcomes, and assessing their impact on maternal HRQoL. It is also important to recognize the impact of maternal-perinatal health on family members’ HRQoL (i.e., family spillover effects) and to incorporate these effects in maternal-perinatal CUAs. Objective The aim was to systematically review the methods used to include health outcomes of pregnant women, fetuses, and children and to incorporate family spillover effects in maternal-perinatal CUAs. Methods A literature search was conducted in Medline, Embase, EconLit, Cochrane Collection, Cumulative Index to Nursing and Allied Health Literature (CINAHL), International Network of Agencies for Health Technology Assessment (INAHTA), and the Pediatric Economic Database Evaluation (PEDE) databases from inception to 2020 to identify maternal-perinatal CUAs that included health outcomes for pregnant women, fetuses, and/or children. The search was updated to December 2022 using PEDE. Data describing how the health outcomes of mothers, fetuses, and children were measured, incorporated, and reported along with the data on family spillover effects were extracted. Results Out of 174 maternal-perinatal CUAs identified, 62 considered the health outcomes of pregnant women, and children. Among the 54 quality-adjusted life year (QALY)-based CUAs, 12 included fetal health outcomes, the impact of fetal loss on mothers’ HRQoL, and the impact of neonatal demise on mothers’ HRQoL. Four studies considered fetal health outcomes and the effects of fetal loss on mothers’ HRQoL. One study included fetal health outcomes and the impact of neonatal demise on maternal HRQoL. Furthermore, six studies considered the impact of neonatal demise on maternal HRQoL, while four included fetal health outcomes. One study included the impact of fetal loss on maternal HRQoL. The remaining 26 only included the health outcomes of pregnant women and children. Among the eight disability-adjusted life year (DALY)-based CUAs, two measured fetal health outcomes. Out of 174 studies, only one study included family spillover effects. The most common measurement approach was to measure the health outcomes of pregnant women and children separately. Various approaches were used to assess fetal losses in terms of QALYs or DALYs and their impact on HRQoL of mothers. The most common integration approach was to sum the QALYs or DALYs for pregnant women and children. Most studies reported combined QALYs and incremental QALYs, or DALYs and incremental DALYs, at the family level for pregnant women and children. ...

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Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

Graziani,

Nuovo,

Pisaneschi

et al. 2024

The Journal of Maternal-Fetal & Neonatal Medicine

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Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis

Cited by 4 publications

References 46 publications

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

A Systematic Review of Methods and Practice for Integrating Maternal, Fetal, and Child Health Outcomes, and Family Spillover Effects into Cost-Utility Analyses

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

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