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

(2020) PRENATAL DIAGNOSIS. 40(10). p.1272-1283
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Abstract
Objective Belgian genetic centers established a database containing data on all chromosomal microarrays 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.
Keywords
CHROMOSOMAL MICROARRAY, ULTRASOUND ABNORMALITIES, 15Q11.2, 22Q11.2, MICRODUPLICATIONS, PHENOTYPE, DIAGNOSIS, RISK, MICRODELETIONS, DUPLICATIONS

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MLA
Muys, Joke, et al. “Prenatally Detected Copy Number Variants in a National Cohort : A Postnatal Follow-up Study.” PRENATAL DIAGNOSIS, vol. 40, no. 10, 2020, pp. 1272–83, doi:10.1002/pd.5751.
APA
Muys, J., Jacquemyn, Y., Blaumeiser, B., Bourlard, L., Brison, N., Bulk, 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
Chicago author-date
Muys, Joke, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, et al. 2020. “Prenatally Detected Copy Number Variants in a National Cohort : A Postnatal Follow-up Study.” PRENATAL DIAGNOSIS 40 (10): 1272–83. https://doi.org/10.1002/pd.5751.
Chicago author-date (all authors)
Muys, Joke, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Desir, Anne Destree, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Annelies Fieuw, Erik Fransen, Jean-Stephane 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, and Katrien Janssens. 2020. “Prenatally Detected Copy Number Variants in a National Cohort : A Postnatal Follow-up Study.” PRENATAL DIAGNOSIS 40 (10): 1272–1283. doi:10.1002/pd.5751.
Vancouver
1.
Muys J, Jacquemyn Y, Blaumeiser B, Bourlard L, Brison N, Bulk S, et al. Prenatally detected copy number variants in a national cohort : a postnatal follow-up study. PRENATAL DIAGNOSIS. 2020;40(10):1272–83.
IEEE
[1]
J. Muys et al., “Prenatally detected copy number variants in a national cohort : a postnatal follow-up study,” PRENATAL DIAGNOSIS, vol. 40, no. 10, pp. 1272–1283, 2020.
@article{8700795,
  abstract     = {Objective Belgian genetic centers established a database containing data on all chromosomal microarrays 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       = {Muys, Joke and Jacquemyn, Yves and Blaumeiser, Bettina and Bourlard, Laura and Brison, Nathalie and Bulk, Saskia and Chiarappa, Patrizia and De Leener, Anne and De Rademaeker, Marjan and Desir, Julie and Destree, Anne and Devriendt, Koenraad and Dheedene, Annelies and Duquenne, Armelle and Fieuw, Annelies and Fransen, Erik and Gatot, Jean-Stephane and Jamar, Mauricette and Janssens, Sandra and Kerstjens, Jorien and Keymolen, Kathelijn and Lederer, Damien and Menten, Björn and Pichon, Bruno and Rombout, Sonia and Sznajer, Yves and Van Den Bogaert, Ann and Van den Bogaert, Kris and Vermeesch, Joris and Janssens, Katrien},
  issn         = {0197-3851},
  journal      = {PRENATAL DIAGNOSIS},
  keywords     = {CHROMOSOMAL MICROARRAY,ULTRASOUND ABNORMALITIES,15Q11.2,22Q11.2,MICRODUPLICATIONS,PHENOTYPE,DIAGNOSIS,RISK,MICRODELETIONS,DUPLICATIONS},
  language     = {eng},
  number       = {10},
  pages        = {1272--1283},
  title        = {Prenatally detected copy number variants in a national cohort : a postnatal follow-up study},
  url          = {http://dx.doi.org/10.1002/pd.5751},
  volume       = {40},
  year         = {2020},
}

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