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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Pubblicato in:Acta Obstet Gynecol Scand
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2020
Soggetti:
Prenatal Diagnosis
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8247008/
https://ncbi.nlm.nih.gov/pubmed/33249554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aogs.14053
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