Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.

ABSTRACT:

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 amniotic fluid samples from 34 fetuses with various clinical indications and chromosomal aberrations detected through standard-of-care technologies, including karyotyping, fluorescence in situ hybridization, and/or chromosomal microarray analysis.

Results

In total, we analyzed 46 chromosomal aberrations from 34 amniotic fluid samples, including 5 aneuploidies, 10

SUBMITTER: Zhang Q 

PROVIDER: S-EPMC10378017 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature