Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency
Open Access
- 15 May 2025
- journal article
- Published by Elsevier in American Journal of Obstetrics and Gynecology
- Vol. 233 (5) , 483.e1-483.e10
Abstract
No abstract availableKeywords
Funding Information
- Key Technologies Research and Development Program
- National Key Research and Development Program of China (2022YFC2703300)
- National Key Research and Development Program of China (2022YFC2703302)
- Sichuan University
This publication has 32 references indexed in Scilit:
- The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentilesPrenatal Diagnosis, 2023
- Diagnostic yield of next‐generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta‐analysisUltrasound in Obstetrics & Gynecology, 2021
- Exome sequencing improves genetic diagnosis of fetal increased nuchal translucencyPrenatal Diagnosis, 2020
- Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?Prenatal Diagnosis, 2019
- Microarray and RASopathy‐disorder testing in fetuses with increased nuchal translucencyUltrasound in Obstetrics & Gynecology, 2019
- Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalitiesUltrasound in Obstetrics & Gynecology, 2017
- Cut‐off value of nuchal translucency as indication for chromosomal microarray analysisUltrasound in Obstetrics & Gynecology, 2017
- The performance of an intermediate 16th‐week ultrasound scan for the follow‐up of euploid fetuses with increased nuchal translucencyPrenatal Diagnosis, 2015
- Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta‐analysisUltrasound in Obstetrics & Gynecology, 2015
- Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta‐analysisUltrasound in Obstetrics & Gynecology, 2013