Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

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作者： Kathleen A,Drexler ^[1] ; Asha N,Talati ^[2] ; Kelly L,Gilmore ^[2] ; Rachel V,Veazey ^[2] ; Bradford C,Powell ^[3] ; Karen E,Weck ^[4] ; Erica E,Davis ^[5] ; Neeta L,Vora ^[2]

作者单位： Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC. Electronic address: kathleen.drexler@unchealth.unc.edu. ^[1] Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC. ^[2] Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, NC. ^[3] Department of Genetics, Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC. ^[4] Department of Pediatrics, Department of Cell and Developmental Biology, Feinberg School of Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL. ^[5]

关键词 Congenital anomalies Deep phenotyping Exome sequencing Fetal brain anomalies Prenatal diagnosis