Incremental yield of whole genome sequencing over chromosome microarray and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta-analysis.

N ShreeveC SprouleK W ChoyZ DongK Gajewska-KnapikMark David Kilby Fionnuala Mone

Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2023)

Whilst WGS investigation for congenital anomaly holds great promise, for the future, its' incremental yield over ES is yet to be demonstrated. However, the laboratory pathway for WGS (compared to sequential QF-PCR/CMA/ES) requires less DNA with a potentially faster TAT. There was a relatively high rate of VUS. This article is protected by copyright. All rights reserved.

Keyphrases

copy number
pregnant women
circulating tumor
single cell
single molecule
current status
cell free
big data
machine learning
body mass index