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
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.