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The Belgian MicroArray Prenatal (BEMAPRE) database : A systematic nationwide repository of fetal genomic aberrations. / Muys, Joke; Blaumeiser, Bettina; Jacquemyn, Yves; Bandelier, Claude; Brison, Nathalie; Bulk, Saskia; Chiarappa, Patrizia; Courtens, Winnie; De Leener, Anne; De Rademaeker, Marjan; Désir, Julie; Destree, Anne; Devriendt, Koenraad; Dheedene, Annelies; Fieuw, Annelies; Fransen, Erik; Gatot, Jean-Stéphane; Holmgren, Philip; Jamar, Mauricette; Janssens, Sandra; Keymolen, Kathelijn; Lederer, Damien; Menten, Björn; Meuwissen, Marije; Parmentier, Benoit; Pichon, Bruno; Rombout, Sonia; Sznajer, Yves; Van Den Bogaert, Ann; Van Den Bogaert, Kris; Vanakker, Olivier; Vermeesch, Joris; Janssens, Katrien.

In: Prenatal Diagnosis, Vol. 38, No. 13, 12.2018, p. 1120-1128.

Research output: Contribution to journalArticle

Harvard

Muys, J, Blaumeiser, B, Jacquemyn, Y, Bandelier, C, Brison, N, Bulk, S, Chiarappa, P, Courtens, W, De Leener, A, De Rademaeker, M, Désir, J, Destree, A, Devriendt, K, Dheedene, A, Fieuw, A, Fransen, E, Gatot, J-S, Holmgren, P, Jamar, M, Janssens, S, Keymolen, K, Lederer, D, Menten, B, Meuwissen, M, Parmentier, B, Pichon, B, Rombout, S, Sznajer, Y, Van Den Bogaert, A, Van Den Bogaert, K, Vanakker, O, Vermeesch, J & Janssens, K 2018, 'The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations', Prenatal Diagnosis, vol. 38, no. 13, pp. 1120-1128. https://doi.org/10.1002/pd.5373

APA

Muys, J., Blaumeiser, B., Jacquemyn, Y., Bandelier, C., Brison, N., Bulk, S., ... Janssens, K. (2018). The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. Prenatal Diagnosis, 38(13), 1120-1128. https://doi.org/10.1002/pd.5373

Vancouver

Muys J, Blaumeiser B, Jacquemyn Y, Bandelier C, Brison N, Bulk S et al. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations. Prenatal Diagnosis. 2018 Dec;38(13):1120-1128. https://doi.org/10.1002/pd.5373

Author

Muys, Joke ; Blaumeiser, Bettina ; Jacquemyn, Yves ; Bandelier, Claude ; Brison, Nathalie ; Bulk, Saskia ; Chiarappa, Patrizia ; Courtens, Winnie ; De Leener, Anne ; De Rademaeker, Marjan ; Désir, Julie ; Destree, Anne ; Devriendt, Koenraad ; Dheedene, Annelies ; Fieuw, Annelies ; Fransen, Erik ; Gatot, Jean-Stéphane ; Holmgren, Philip ; Jamar, Mauricette ; Janssens, Sandra ; Keymolen, Kathelijn ; Lederer, Damien ; Menten, Björn ; Meuwissen, Marije ; Parmentier, Benoit ; Pichon, Bruno ; Rombout, Sonia ; Sznajer, Yves ; Van Den Bogaert, Ann ; Van Den Bogaert, Kris ; Vanakker, Olivier ; Vermeesch, Joris ; Janssens, Katrien. / The Belgian MicroArray Prenatal (BEMAPRE) database : A systematic nationwide repository of fetal genomic aberrations. In: Prenatal Diagnosis. 2018 ; Vol. 38, No. 13. pp. 1120-1128.

BibTeX

@article{eeb8b9026b7543eb9ddcb26f7fcb6b75,
title = "The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations",
abstract = "Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8{\%} in the general invasive population and 2.7{\%} in cases with an ultrasound anomaly. Of the reported CNVs, 31.5{\%} would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation.",
author = "Joke Muys and Bettina Blaumeiser and Yves Jacquemyn and Claude Bandelier and Nathalie Brison and Saskia Bulk and Patrizia Chiarappa and Winnie Courtens and {De Leener}, Anne and {De Rademaeker}, Marjan and Julie D{\'e}sir and Anne Destree and Koenraad Devriendt and Annelies Dheedene and Annelies Fieuw and Erik Fransen and Jean-St{\'e}phane Gatot and Philip Holmgren and Mauricette Jamar and Sandra Janssens and Kathelijn Keymolen and Damien Lederer and Bj{\"o}rn Menten and Marije Meuwissen and Benoit Parmentier and Bruno Pichon and Sonia Rombout and Yves Sznajer and {Van Den Bogaert}, Ann and {Van Den Bogaert}, Kris and Olivier Vanakker and Joris Vermeesch and Katrien Janssens",
note = "{\circledC} 2018 John Wiley & Sons, Ltd.",
year = "2018",
month = "12",
doi = "10.1002/pd.5373",
language = "English",
volume = "38",
pages = "1120--1128",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "13",

}

RIS

TY - JOUR

T1 - The Belgian MicroArray Prenatal (BEMAPRE) database

T2 - A systematic nationwide repository of fetal genomic aberrations

AU - Muys, Joke

AU - Blaumeiser, Bettina

AU - Jacquemyn, Yves

AU - Bandelier, Claude

AU - Brison, Nathalie

AU - Bulk, Saskia

AU - Chiarappa, Patrizia

AU - Courtens, Winnie

AU - De Leener, Anne

AU - De Rademaeker, Marjan

AU - Désir, Julie

AU - Destree, Anne

AU - Devriendt, Koenraad

AU - Dheedene, Annelies

AU - Fieuw, Annelies

AU - Fransen, Erik

AU - Gatot, Jean-Stéphane

AU - Holmgren, Philip

AU - Jamar, Mauricette

AU - Janssens, Sandra

AU - Keymolen, Kathelijn

AU - Lederer, Damien

AU - Menten, Björn

AU - Meuwissen, Marije

AU - Parmentier, Benoit

AU - Pichon, Bruno

AU - Rombout, Sonia

AU - Sznajer, Yves

AU - Van Den Bogaert, Ann

AU - Van Den Bogaert, Kris

AU - Vanakker, Olivier

AU - Vermeesch, Joris

AU - Janssens, Katrien

N1 - © 2018 John Wiley & Sons, Ltd.

PY - 2018/12

Y1 - 2018/12

N2 - Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation.

AB - Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Methods: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. Results: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. Conclusion: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype–phenotype correlation.

UR - http://www.scopus.com/inward/record.url?scp=85056469839&partnerID=8YFLogxK

U2 - 10.1002/pd.5373

DO - 10.1002/pd.5373

M3 - Article

C2 - 30334587

VL - 38

SP - 1120

EP - 1128

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 13

ER -

ID: 39985592