Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

doi:10.1111/aogs.14613

Article

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis

27 Jun 2023

Abstract excerpt

INTRODUCTION: Chromosomal aberrations are the most important etiological factors for birth defects. Optical genome mapping is a novel cytogenetic tool for detecting a broad range of chromosomal aberrations in a single assay, but relevant clinical feasibility studies of optical genome mapping in prenatal diagnosis are limited. MATERIAL AND METHODS: We retrospectively performed optical genome mapping analysis of...

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