Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

ABSTRACT:

Objective

To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase diagnostic yield.

Design

Retrospective analysis of data from two prospective cohort studies.

Setting

Fetal medicine centres in the UK and USA.

Population

Fetuses with increased NT ≥3.5 mm at 11-14 weeks of gestation recruited to the Prenatal Assessment of Genomes and Exomes (PAGE) and Columbia fetal whole exome sequencing studies (n = 213).

Methods

We grouped cases based on (1) the presence of additional structural abnormalities at presentation in the first trimester or later in pregnancy, and (2) NT measurement at presentation. We compared diagnostic rates between groups using Fisher exact test.

SUBMITTER: Mellis R 

PROVIDER: S-EPMC9292445 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature