Prenatally detected copy number variants in a national cohort a postnatal follow-up study

Joke Muys; Yves Jacquemyn; Bettina Blaumeiser; Laura Bourlard; Nathalie Brison; Saskia Bulk; Patrizia Chiarappa; Anne De Leener; Marjan De Rademaeker; Julie Désir; Anne Destrée; Koenraad Devriendt; Annelies Dheedene; Armelle Duquenne; Annelies Fieuw; Erik Fransen; Jean-Stéphane Gatot; Mauricette Jamar; Sandra Janssens; Jorien Kerstjens; Kathelijn Keymolen; Damien Lederer; Björn Menten; Bruno Pichon; Sonia Rombout; Yves Sznajer; Ann Van Den Bogaert; Kris Van Den Bogaert; Joris Vermeesch; K Janssens

doi:10.1002/pd.5751

Prenatally detected copy number variants in a national cohort a postnatal follow-up study

Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Désir, Anne Destrée, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Annelies Fieuw, Erik Fransen, Jean-Stéphane Gatot, Mauricette Jamar, Sandra Janssens, Jorien KerstjensKathelijn Keymolen, Damien Lederer, Björn Menten, Bruno Pichon, Sonia Rombout, Yves Sznajer, Ann Van Den Bogaert, Kris Van Den Bogaert, Joris Vermeesch, K Janssens

Onderzoeksoutput: Article › peer review

8 Citaten (Scopus)

Samenvatting

OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays (CMA) performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV).

METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire.

RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner.

CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

Originele taal-2	English
Pagina's (van-tot)	1272-1283
Aantal pagina's	12
Tijdschrift	Prenatal Diagnosis
Volume	40
Nummer van het tijdschrift	10
Vroegere onlinedatum	2020
DOI's	https://doi.org/10.1002/pd.5751
Status	Published - 1 sep. 2020

Bibliografische nota

Toegang tot document

10.1002/pd.5751

Andere bestanden en links

Link to publication in Scopus

Citeer dit

Muys, J., Jacquemyn, Y., Blaumeiser, B., Bourlard, L., Brison, N., Bulk, S., Chiarappa, P., De Leener, A., De Rademaeker, M., Désir, J., Destrée, A., Devriendt, K., Dheedene, A., Duquenne, A., Fieuw, A., Fransen, E., Gatot, J.-S., Jamar, M., Janssens, S., ... Janssens, K. (2020). Prenatally detected copy number variants in a national cohort a postnatal follow-up study. Prenatal Diagnosis, 40(10), 1272-1283. https://doi.org/10.1002/pd.5751

@article{af30ca21d23a475b9004327ba0c168b8,

title = "Prenatally detected copy number variants in a national cohort a postnatal follow-up study",

abstract = "OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays (CMA) performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV).METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire.RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner.CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.",

author = "Joke Muys and Yves Jacquemyn and Bettina Blaumeiser and Laura Bourlard and Nathalie Brison and Saskia Bulk and Patrizia Chiarappa and {De Leener}, Anne and {De Rademaeker}, Marjan and Julie D{\'e}sir and Anne Destr{\'e}e and Koenraad Devriendt and Annelies Dheedene and Armelle Duquenne and Annelies Fieuw and Erik Fransen and Jean-St{\'e}phane Gatot and Mauricette Jamar and Sandra Janssens and Jorien Kerstjens and Kathelijn Keymolen and Damien Lederer and Bj{\"o}rn Menten and Bruno Pichon and Sonia Rombout and Yves Sznajer and {Van Den Bogaert}, Ann and {Van Den Bogaert}, Kris and Joris Vermeesch and K Janssens",

note = "{\textcopyright} 2020 John Wiley & Sons, Ltd.",

year = "2020",

month = sep,

day = "1",

doi = "10.1002/pd.5751",

language = "English",

volume = "40",

pages = "1272--1283",

journal = "Prenatal Diagnosis",

issn = "0197-3851",

publisher = "John Wiley and Sons Ltd",

number = "10",

}

Muys, J, Jacquemyn, Y, Blaumeiser, B, Bourlard, L, Brison, N, Bulk, S, Chiarappa, P, De Leener, A, De Rademaeker, M, Désir, J, Destrée, A, Devriendt, K, Dheedene, A, Duquenne, A, Fieuw, A, Fransen, E, Gatot, J-S, Jamar, M, Janssens, S, Kerstjens, J, Keymolen, K, Lederer, D, Menten, B, Pichon, B, Rombout, S, Sznajer, Y, Van Den Bogaert, A, Van Den Bogaert, K, Vermeesch, J & Janssens, K 2020, 'Prenatally detected copy number variants in a national cohort a postnatal follow-up study', Prenatal Diagnosis, vol. 40, nr. 10, blz. 1272-1283. https://doi.org/10.1002/pd.5751

TY - JOUR

T1 - Prenatally detected copy number variants in a national cohort a postnatal follow-up study

AU - Muys, Joke

AU - Jacquemyn, Yves

AU - Blaumeiser, Bettina

AU - Bourlard, Laura

AU - Brison, Nathalie

AU - Bulk, Saskia

AU - Chiarappa, Patrizia

AU - De Leener, Anne

AU - De Rademaeker, Marjan

AU - Désir, Julie

AU - Destrée, Anne

AU - Devriendt, Koenraad

AU - Dheedene, Annelies

AU - Duquenne, Armelle

AU - Fieuw, Annelies

AU - Fransen, Erik

AU - Gatot, Jean-Stéphane

AU - Jamar, Mauricette

AU - Janssens, Sandra

AU - Kerstjens, Jorien

AU - Keymolen, Kathelijn

AU - Lederer, Damien

AU - Menten, Björn

AU - Pichon, Bruno

AU - Rombout, Sonia

AU - Sznajer, Yves

AU - Van Den Bogaert, Ann

AU - Van Den Bogaert, Kris

AU - Vermeesch, Joris

AU - Janssens, K

PY - 2020/9/1

Y1 - 2020/9/1

N2 - OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays (CMA) performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV).METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire.RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner.CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

AB - OBJECTIVE: Belgian genetic centers established a database containing data on all chromosomal microarrays (CMA) performed in a prenatal context. A study was initiated to evaluate postnatal development in children diagnosed prenatally with a non-benign copy number variant (CNV).METHODS: All children diagnosed with a prenatally detected non-benign CNV in a Belgian genetic center between May 2013 and February 2015 were included in the patient population. The control population consisted of children who had undergone an invasive procedure during pregnancy, with no or only benign CNVs. Child development was evaluated at 36 months using three (3) questionnaires: Ages and Stages Questionnaire Third edition, Ages and Stages Questionnaire Social-Emotional Second Edition and a general questionnaire.RESULTS: A significant difference in communication and personal-social development was detected between children with a reported susceptibility CNV and both children with an unreported susceptibility CNV and the control population. The outcome of children with a particular CNV is discussed in a case-by-case manner.CONCLUSION: Our postnatal follow-up project of children with a prenatally detected non-benign CNV is the first nationwide project of its kind. A higher number of cases for each CNV category is however needed to confirm our findings.

UR - http://www.scopus.com/inward/record.url?scp=85087172255&partnerID=8YFLogxK

U2 - 10.1002/pd.5751

DO - 10.1002/pd.5751

M3 - Article

C2 - 32436253

SN - 0197-3851

VL - 40

SP - 1272

EP - 1283

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 10

ER -

Prenatally detected copy number variants in a national cohort a postnatal follow-up study

Samenvatting

Bibliografische nota

Toegang tot document

Andere bestanden en links

Vingerafdruk

Citeer dit