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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Authors: Pauta, Montse, Martínez Portilla, Raigam J., Meler Barrabés, Eva, Otaño, Juan, Borrell, Antoni
Format: article
Status:Published version
Publication Date:2023
Country:España
Institution:Universidad de Barcelona
Repository:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/207532
Online Access:https://hdl.handle.net/2445/207532
Access Level:Open access
Keyword:Embaràs
Retard del creixement intrauterí
Pregnancy
Fetal growth retardation
id ES_0e8dced124311ff4dce99ba76969dd74
oai_identifier_str oai:diposit.ub.edu:2445/207532
network_acronym_str ES
network_name_str España
repository_id_str
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 & Sons2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/207532Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésReproducció 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:diposit.ub.edu:2445/2075322026-05-27T06:46:51Z
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
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 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:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,300724

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