How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used?

ABSTRACT:

Introduction

Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.

Methods

A 4-year retrospective study of singleton pregnancies undergoing first-line gwNIPT aneuploidy screening where invasive prenatal testing by CVS/or amniocentesis was subsequently undertaken. Population proportions for static and multiple of the median (MoM) NT cut-offs were derived from all 11-14 weeks ultrasound examinations.

Re

SUBMITTER: Han MP 

PROVIDER: S-EPMC11790515 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature