Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases.

ABSTRACT:

Purpose

Cell-free DNA (cfDNA) testing for fetal aneuploidies was broadly implemented for common trisomies and sex-chromosome anomalies (SCAs). However, such an approach identifies only 75 to 85% of clinically relevant aneuploidies.

Methods

We present a consecutive series of 6,388 cases, thus uncovering a broader array of aneuploidies, including the rare autosomal trisomies (RATs) and the maternally inherited deletion and duplication copy-number variations (CNVs), with complete and stratified follow-up by amniocentesis. Combined measurements of z-scores and the fetal fraction, in conjunction with fetal cfDNA enrichment, were used to stratify the likelihood of true and false results.

Results

We obtained an incremental diagnostic yield of 50%; RATs and CNVs were found to

SUBMITTER: Pescia G 

PROVIDER: S-EPMC5303761 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature