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Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Among authors: vogel i. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
First trimester screening for other trisomies than trisomy 21, 18, and 13.
Tørring N, Petersen OB, Becher N, Vogel I, Uldbjerg N; Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Tørring N, et al. Among authors: vogel i. Prenat Diagn. 2015 Jun;35(6):612-9. doi: 10.1002/pd.4584. Epub 2015 Apr 9. Prenat Diagn. 2015. PMID: 25708180
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.
Hill M, Johnson JA, Langlois S, Lee H, Winsor S, Dineley B, Horniachek M, Lalatta F, Ronzoni L, Barrett AN, Advani HV, Choolani M, Rabinowitz R, Pajkrt E, van Schendel RV, Henneman L, Rommers W, Bilardo CM, Rendeiro P, Ribeiro MJ, Rocha J, Bay Lund IC, Petersen OB, Becher N, Vogel I, Stefánsdottir V, Ingvarsdottir S, Gottfredsdottir H, Morris S, Chitty LS. Hill M, et al. Among authors: vogel i. Eur J Hum Genet. 2016 Jul;24(7):968-75. doi: 10.1038/ejhg.2015.249. Epub 2015 Nov 18. Eur J Hum Genet. 2016. PMID: 26577044 Free PMC article.
356 results