Prenatally detected copy number variants in a national cohort: A postnatal follow-up study
| Autor: | Sandra Janssens, Koenraad Devriendt, Joris Vermeesch, Julie Désir, J. Muys, Erik Fransen, Marjan De Rademaeker, Bettina Blaumeiser, Saskia Bulk, Katrien Janssens, Damien Lederer, Armelle Duquenne, Laura Bourlard, Björn Menten, Kathelijn Keymolen, Mauricette Jamar, Nathalie Brison, Ann Van Den Bogaert, Annelies Dheedene, Yves Sznajer, Yves Jacquemyn, Jean-Stéphane Gatot, Anne Destree, Bruno Pichon, Patrizia Chiarappa, Jorien Kerstjens, Annelies Fieuw, Kris Van Den Bogaert, Anne De Leener, Sonia Rombout |
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| Přispěvatelé: | Clinical sciences, Medical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty DNA Copy Number Variations Context (language use) 030105 genetics & heredity Congenital Abnormalities National cohort Cohort Studies 03 medical and health sciences 0302 clinical medicine Belgium Pregnancy Prenatal Diagnosis medicine Humans Copy-number variation Genetics (clinical) Chromosome Aberrations 030219 obstetrics & reproductive medicine business.industry Significant difference Infant Newborn Pregnancy Outcome Follow up studies Infant Obstetrics and Gynecology Microarray Analysis medicine.disease Child development eye diseases Patient population Case-Control Studies Child Preschool Female Human medicine business Follow-Up Studies |
| Zdroj: | Prenatal diagnosis |
| ISSN: | 0197-3851 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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