Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

The standard-of-care diagnostic prenatal testing includes a combination of cytogenetic methods, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), using either direct or cultured amniocytes or chorionic villi sampling. However, each technology has its l...

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Veröffentlicht in:	The Journal of molecular diagnostics : JMD 2023-04, Vol.25 (4), p.234-246
Hauptverfasser:	Sahajpal, Nikhil S., Mondal, Ashis K., Fee, Timothy, Hilton, Benjamin, Layman, Lawrence, Hastie, Alex R., Chaubey, Alka, DuPont, Barbara R., Kolhe, Ravindra
Format:	Artikel
Sprache:	eng
Schlagworte:	Aneuploidy Chromosome Aberrations Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosome Mapping Cytogenetic Analysis - methods Female Humans In Situ Hybridization, Fluorescence Karyotyping Pregnancy Prenatal Diagnosis - methods
Online-Zugang:	Volltext
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