Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Karin Huijsdens-van Amsterdam; Lieve Page-Christiaens; Nicola Flowers; Michael D Bonifacio; Katie M Battese Ellis; Ida Vogel; Else Marie Vestergaard; Javier Miguelez; Mario Henrique Burlacchini de Carvalho; Erik A Sistermans; Mark D Pertile

Journal article

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mario Henrique Burlacchini de Carvalho, Erik A Sistermans, Mark D Pertile

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2018

DOI: 10.1038/s41431-018-0188-1

University of Melbourne Researchers

Mark Pertile Author Paediatrics Royal Children's Hospital

Grants

Funding Acknowledgements

We thank Dr. D. van Beek, University Medical Center Utrecht, and Dr. M. C. van Maarle, Academic Medical Center Amsterdam, for their contributions to data for Case 1. Research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.