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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis. / Scholz, Tasja; Blohm, Martin Ernst; Kortüm, Fanny; Bierhals, Tatjana; Lessel, Davor; van der Ven, Amelie T; Lisfeld, Jasmin; Herget, Theresia; Kloth, Katja; Singer, Dominique; Perez, Anna; Obi, Nadia; Johannsen, Jessika; Denecke, Jonas; Santer, René; Kubisch, Christian; Deindl, Philipp; Hempel, Maja.

in: NEONATOLOGY, Jahrgang 118, Nr. 4, 2021, S. 454-461.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Scholz, T, Blohm, ME, Kortüm, F, Bierhals, T, Lessel, D, van der Ven, AT, Lisfeld, J, Herget, T, Kloth, K, Singer, D, Perez, A, Obi, N, Johannsen, J, Denecke, J, Santer, R, Kubisch, C, Deindl, P & Hempel, M 2021, 'Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis', NEONATOLOGY, Jg. 118, Nr. 4, S. 454-461. https://doi.org/10.1159/000516890

APA

Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P., & Hempel, M. (2021). Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis. NEONATOLOGY, 118(4), 454-461. https://doi.org/10.1159/000516890

Vancouver

Scholz T, Blohm ME, Kortüm F, Bierhals T, Lessel D, van der Ven AT et al. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis. NEONATOLOGY. 2021;118(4):454-461. https://doi.org/10.1159/000516890

Bibtex

@article{74b2cc38d459427ca7b2c1d953df12aa,
title = "Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis",
abstract = "INTRODUCTION: Monogenic diseases play an important role in critically ill neonates and infants treated in the intensive care unit. This study aimed to determine the diagnostic yield of whole-exome sequencing (WES) for monogenic diseases and identify phenotypes more likely associated with a genetic etiology.METHODS: From March 2017 to 2020, a comprehensive diagnostic workup including WES in a single academic center was performed in 61 unrelated, critically ill neonates and infants with an unknown underlying disease within the first year of life. We conducted 59 trio-WES, 1 duo-WES, and 1 single-WES analyses. Symptoms were classified according to the Human Phenotype Ontology.RESULTS: The overall molecular genetic diagnostic rate within our cohort was 46% (28/61) and 50% (15/30) in the subgroup of preterm neonates. Identifying the genetic cause of disease facilitates individualized management in the majority of patients. A positive or negative predictive power of specific clinical features for a genetic diagnosis could not be observed.CONCLUSION: WES is a powerful noninvasive diagnostic tool in critically ill neonates and infants with a high diagnostic rate. We recommend initiating WES as early as possible due to the impact on management and family counseling. Recommendations regarding the clinical utility of WES in critically ill neonates and infants should not be based on the phenotype alone. Here, we present a clinical workflow for the application of WES for critically ill neonates and infants in an interdisciplinary setting.",
author = "Tasja Scholz and Blohm, {Martin Ernst} and Fanny Kort{\"u}m and Tatjana Bierhals and Davor Lessel and {van der Ven}, {Amelie T} and Jasmin Lisfeld and Theresia Herget and Katja Kloth and Dominique Singer and Anna Perez and Nadia Obi and Jessika Johannsen and Jonas Denecke and Ren{\'e} Santer and Christian Kubisch and Philipp Deindl and Maja Hempel",
note = "{\textcopyright} 2021 S. Karger AG, Basel.",
year = "2021",
doi = "10.1159/000516890",
language = "English",
volume = "118",
pages = "454--461",
journal = "NEONATOLOGY",
issn = "1661-7800",
publisher = "S. Karger AG",
number = "4",

}

RIS

TY - JOUR

T1 - Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

AU - Scholz, Tasja

AU - Blohm, Martin Ernst

AU - Kortüm, Fanny

AU - Bierhals, Tatjana

AU - Lessel, Davor

AU - van der Ven, Amelie T

AU - Lisfeld, Jasmin

AU - Herget, Theresia

AU - Kloth, Katja

AU - Singer, Dominique

AU - Perez, Anna

AU - Obi, Nadia

AU - Johannsen, Jessika

AU - Denecke, Jonas

AU - Santer, René

AU - Kubisch, Christian

AU - Deindl, Philipp

AU - Hempel, Maja

N1 - © 2021 S. Karger AG, Basel.

PY - 2021

Y1 - 2021

N2 - INTRODUCTION: Monogenic diseases play an important role in critically ill neonates and infants treated in the intensive care unit. This study aimed to determine the diagnostic yield of whole-exome sequencing (WES) for monogenic diseases and identify phenotypes more likely associated with a genetic etiology.METHODS: From March 2017 to 2020, a comprehensive diagnostic workup including WES in a single academic center was performed in 61 unrelated, critically ill neonates and infants with an unknown underlying disease within the first year of life. We conducted 59 trio-WES, 1 duo-WES, and 1 single-WES analyses. Symptoms were classified according to the Human Phenotype Ontology.RESULTS: The overall molecular genetic diagnostic rate within our cohort was 46% (28/61) and 50% (15/30) in the subgroup of preterm neonates. Identifying the genetic cause of disease facilitates individualized management in the majority of patients. A positive or negative predictive power of specific clinical features for a genetic diagnosis could not be observed.CONCLUSION: WES is a powerful noninvasive diagnostic tool in critically ill neonates and infants with a high diagnostic rate. We recommend initiating WES as early as possible due to the impact on management and family counseling. Recommendations regarding the clinical utility of WES in critically ill neonates and infants should not be based on the phenotype alone. Here, we present a clinical workflow for the application of WES for critically ill neonates and infants in an interdisciplinary setting.

AB - INTRODUCTION: Monogenic diseases play an important role in critically ill neonates and infants treated in the intensive care unit. This study aimed to determine the diagnostic yield of whole-exome sequencing (WES) for monogenic diseases and identify phenotypes more likely associated with a genetic etiology.METHODS: From March 2017 to 2020, a comprehensive diagnostic workup including WES in a single academic center was performed in 61 unrelated, critically ill neonates and infants with an unknown underlying disease within the first year of life. We conducted 59 trio-WES, 1 duo-WES, and 1 single-WES analyses. Symptoms were classified according to the Human Phenotype Ontology.RESULTS: The overall molecular genetic diagnostic rate within our cohort was 46% (28/61) and 50% (15/30) in the subgroup of preterm neonates. Identifying the genetic cause of disease facilitates individualized management in the majority of patients. A positive or negative predictive power of specific clinical features for a genetic diagnosis could not be observed.CONCLUSION: WES is a powerful noninvasive diagnostic tool in critically ill neonates and infants with a high diagnostic rate. We recommend initiating WES as early as possible due to the impact on management and family counseling. Recommendations regarding the clinical utility of WES in critically ill neonates and infants should not be based on the phenotype alone. Here, we present a clinical workflow for the application of WES for critically ill neonates and infants in an interdisciplinary setting.

U2 - 10.1159/000516890

DO - 10.1159/000516890

M3 - SCORING: Journal article

C2 - 34237744

VL - 118

SP - 454

EP - 461

JO - NEONATOLOGY

JF - NEONATOLOGY

SN - 1661-7800

IS - 4

ER -