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Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Ieva Miceikaite1,2, Christina Fagerberg2, Charlotte Brasch-Andersen1,2

  • 1Department of Clinical Research, Clinical Genome Center & Human Genetics Unit, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.

Prenatal Diagnosis
|June 25, 2023
PubMed
Summary

Trio whole exome sequencing (WES) and whole genome sequencing (WGS) significantly improve prenatal diagnosis for fetal anomalies, offering a higher diagnostic yield than chromosomal microarray (CMA). These advanced genetic tests show promise as standalone diagnostic methods.

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