Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.

ABSTRACT:

Purpose

Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of low-pass GS compared with CMA is warranted.

Methods

A total of 1023 women undergoing prenatal diagnosis were enrolled. Each sample was subjected to low-pass GS and CMA for CNV analysis in parallel. CNVs were classified according to guidelines of the American College of Medical Genetics and Genomics.

Results

Low-pass GS not only identified all 124 numerical disorders or pathogenic or likely pathogenic (P/LP) CNVs detected by CMA in 121 cases (11.8%, 121/1023

SUBMITTER: Wang H 

PROVIDER: S-EPMC7042067 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature