Pernille Mathiesen Torring on Muck Rack

Pernille Mathiesen Torring

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Articles

Comprehensive prenatal diagnostics: Exome versus genome sequencing

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By Charlotte Brasch-Andersen, Ieva Miceikaite, Christina Fagerberg, Pernille Mathiesen Torring
| Wiley Online Library Verified
STRUCTURED ABSTRACT Objective This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies, comparing the results to conventional chromosomal microarray (CMA) analysis. Methods A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT≥5mm) were included between the 12th and 21st week of gestation.
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