Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis

To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR) METHOD: This was a systematic review conducted in accordance with PRISMA guidelines. Selected studies included those w...

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Autores: Pauta, Montse, Martínez Portilla, Raigam J., Meler Barrabés, Eva, Otaño, Juan, Borrell, Antoni
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/207532
Acceso en línea:https://hdl.handle.net/2445/207532
Access Level:acceso abierto
Palabra clave:Embaràs
Retard del creixement intrauterí
Pregnancy
Fetal growth retardation
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spelling Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysisPauta, MontseMartínez Portilla, Raigam J.Meler Barrabés, EvaOtaño, JuanBorrell, AntoniEmbaràsRetard del creixement intrauteríPregnancyFetal growth retardationTo determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR) METHOD: This was a systematic review conducted in accordance with PRISMA guidelines. Selected studies included those with: (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. Incidence was used as the pooled effect size by single-proportion analysis using a generalized linear mixed model (by logit transformation).Eight studies with data on ES diagnostic yield, including 146 fetuses with isolated FGR, were identified. Overall, a pathogenic variant determined as potentially causative of the fetal phenotype was found in 17 cases, resulting in a 12% (95% CI: 7-18%) incremental performance pool of ES.A monogenic disorder was prenatally found in association with apparently isolated FGR in 12% of these fetuses. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.John Wiley & Sons2024202420232024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion27 p.application/pdfhttps://hdl.handle.net/2445/207532Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1002/pd.6339Prenatal Diagnosis, 2023, vol. 43, num. 5, p. 596-604https://doi.org/10.1002/pd.6339(c) John Wiley & Sons, 2023info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2075322026-05-29T05:05:01Z
dc.title.none.fl_str_mv Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
title Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
spellingShingle Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
Pauta, Montse
Embaràs
Retard del creixement intrauterí
Pregnancy
Fetal growth retardation
title_short Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
title_full Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
title_fullStr Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
title_full_unstemmed Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
title_sort Diagnostic yield of exome sequencing in fetal growth restriction: Systematic review and meta-analysis
dc.creator.none.fl_str_mv Pauta, Montse
Martínez Portilla, Raigam J.
Meler Barrabés, Eva
Otaño, Juan
Borrell, Antoni
author Pauta, Montse
author_facet Pauta, Montse
Martínez Portilla, Raigam J.
Meler Barrabés, Eva
Otaño, Juan
Borrell, Antoni
author_role author
author2 Martínez Portilla, Raigam J.
Meler Barrabés, Eva
Otaño, Juan
Borrell, Antoni
author2_role author
author
author
author
dc.subject.none.fl_str_mv Embaràs
Retard del creixement intrauterí
Pregnancy
Fetal growth retardation
topic Embaràs
Retard del creixement intrauterí
Pregnancy
Fetal growth retardation
description To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal growth restriction (FGR) METHOD: This was a systematic review conducted in accordance with PRISMA guidelines. Selected studies included those with: (a) only fetuses with FGR in the absence of fetal structural anomalies and (b) negative CMA or karyotyping results. Only positive variants classified as likely pathogenic or pathogenic determined as causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. Incidence was used as the pooled effect size by single-proportion analysis using a generalized linear mixed model (by logit transformation).Eight studies with data on ES diagnostic yield, including 146 fetuses with isolated FGR, were identified. Overall, a pathogenic variant determined as potentially causative of the fetal phenotype was found in 17 cases, resulting in a 12% (95% CI: 7-18%) incremental performance pool of ES.A monogenic disorder was prenatally found in association with apparently isolated FGR in 12% of these fetuses. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.
publishDate 2023
dc.date.none.fl_str_mv 2023
2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/207532
url https://hdl.handle.net/2445/207532
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1002/pd.6339
Prenatal Diagnosis, 2023, vol. 43, num. 5, p. 596-604
https://doi.org/10.1002/pd.6339
dc.rights.none.fl_str_mv (c) John Wiley & Sons, 2023
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) John Wiley & Sons, 2023
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 27 p.
application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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