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Updated: Aug 7, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Prenatal next-generation sequencing in the fetus with congenital malformations: how can we improve clinical utility?
Mark D Kilby1, Sian Morgan2, Fionnuala Mone3
1Fetal Medicine Centre, Birmingham Women's & Children's Foundation Trust, Birmingham, United Kingdom (Dr Kilby); Fetal Medicine Centre, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom (Dr Kilby); Illumina, Cambridge, United Kingdom (Dr Kilby).
Abstract:
Fetal malformations have a variable prognosis that may be influenced by the detection of an underlying monogenic etiology. The careful detection and selection of fetal phenotypes and the use of prenatal next-generation sequencing with robust bioinformatic pathways and variant selection have improved the clinical utility and impact of genetic testing.
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