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. 2020 Sep;40(10):1272-1283.
doi: 10.1002/pd.5751. Epub 2020 Jun 24.

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

Joke Muys  1   2 , Yves Jacquemyn  1   3 , Bettina Blaumeiser  1   2 , Laura Bourlard  4 , Nathalie Brison  5 , Saskia Bulk  6 , Patrizia Chiarappa  7 , Anne De Leener  7 , Marjan De Rademaeker  1 , Julie Désir  4 , Anne Destrée  8 , Koenraad Devriendt  5 , Annelies Dheedene  9 , Armelle Duquenne  7 , Annelies Fieuw  10 , Erik Fransen  2 , Jean-Stéphane Gatot  6 , Mauricette Jamar  6 , Sandra Janssens  9 , Jorien Kerstjens  11 , Kathelijn Keymolen  10 , Damien Lederer  8 , Björn Menten  9 , Bruno Pichon  4 , Sonia Rombout  8 , Yves Sznajer  7 , Ann Van Den Bogaert  10 , Kris Van Den Bogaert  5 , Joris Vermeesch  5 , Katrien Janssens  2
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Prenatally detected copy number variants in a national cohort: A postnatal follow-up study

Joke Muys et al. Prenat Diagn. 2020 Sep.

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.

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References

REFERENCES

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