Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome
P. Dar, Bo Jacobsson, Rebecca G. Clifton, Melissa Egbert, Fergal D. Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Lance Edwards, Noel Strong, Sina Haeri, Robert Silver, Nidhi Vohra, Jon Hyett, Zachary Demko, Kimberly Martin, Matthew Rabinowitz, Karen Flood, Ylva Carlsson, Georgios Doulaveris, Sean Daly, Maria Hallingström, Cora MacPherson, Charlly Kao, Håkon Håkonarson, Mary E. Norton
Topics & Concepts
DiGeorge syndromeCell-free fetal DNAMedicinePrenatal diagnosisDeletion syndromeCopy-number variationGenetic testingAneuploidyPregnancyDown syndromeGeneticsInternal medicineFetusBiologyGeneChromosomePhenotypeGenomePsychiatryCongenital heart defects researchPrenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities