Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.

ABSTRACT:

Background

Increased nuchal translucency (NT) is associated with an increased risk for genetic disorders. The aim of this study was to investigate the value of whole-exome sequencing (WES) in detecting genetic abnormalities for fetuses with isolated first-trimester increased NT.

Methods

After the exclusion of aneuploidies and pathogenic copy number variants (CNVs) by quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA), WES was performed on 63 fetuses with isolated first-trimester increased NT (≥3.5 mm).

Results

Overall, WES yielded a 4.8% (3/63) diagnostic rate for fetuses with isolated increased NT. Pathogenic variants were identified in 37.5% (3/8) fetuses that developed additional structural anomalies later in gesta

SUBMITTER: Cao C 

PROVIDER: S-EPMC10655512 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature