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Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Ieva MiceikaiteChristina FagerbergCharlotte Brasch-AndersenPernille Mathiesen TorringBritta Schlott KristiansenQin HaoLene SperlingMette Holm IbsenKatrin LöserEske Alf BendsenLilian Bomme OusagerMartin Jakob Larsen
Published in: Prenatal diagnosis (2023)
Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples. This article is protected by copyright. All rights reserved.
Keyphrases
  • pregnant women
  • copy number
  • single cell
  • genome wide
  • dna methylation
  • human health