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Prenatal DNA Sequencing: Clinical,Counseling, and Diagnostic Laboratory Considerations |
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| Authors: | Ahmad N. Abou Tayoun Nancy B. Spinner Heidi L. Rehm Robert C. Green Diana W. Bianchi |
| Affiliation: | 1. Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and the Perelman School of Medicine at The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA;2. Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA The Broad Institute of MIT and Harvard, Cambridge, MA, USA;3. The Broad Institute of MIT and Harvard, Cambridge, MA, USA Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA;4. Mother Infant Research Institute, Tufts Medical Center, Boston, MA, USA |
| Abstract: | Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography. Here, we provide an overview of these challenges and highlight the clinical utility, reporting, and counseling issues associated with prenatal DNA sequencing. Future considerations are also discussed. © 2017 John Wiley & Sons, Ltd. |
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