Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program.

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第一作者： I,Vogel

第一单位： Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Center for Prenatal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.;Institute of Biomedicine, Aarhus University Hospital, Aarhus, Denmark.

作者： I,Vogel ^[1] ; O B,Petersen ^[2] ; R,Christensen ^[3] ; J,Hyett ^[4] ; S,Lou ^[5] ; E M,Vestergaard ^[1]

作者单位： Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Center for Prenatal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.;Institute of Biomedicine, Aarhus University Hospital, Aarhus, Denmark. ^[1] Center for Prenatal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.;Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark. ^[2] Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.;Institute of Biomedicine, Aarhus University Hospital, Aarhus, Denmark. ^[3] Discipline of Obstetrics, Gynaecology and Neonatology, University of Sydney, Sydney, Australia. ^[4] Center for Prenatal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.;DEFACTUM, Central Denmark Region, Denmark. ^[5]

关键词 array comparative genomic hybridization chromosomal microarray genomic imbalance pathogenic CNV prenatal diagnosis risk above 1:300