The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

INTRODUCTION: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. MATERIAL AND METHODS: In the period 2013‐2016, 391 pr...

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Detalles Bibliográficos
Autores principales: Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Prenatal Diagnosis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247008/
https://www.ncbi.nlm.nih.gov/pubmed/33249554
http://dx.doi.org/10.1111/aogs.14053

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247008/
https://www.ncbi.nlm.nih.gov/pubmed/33249554
http://dx.doi.org/10.1111/aogs.14053

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