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- Title
Reply.
- Authors
Westenius, E.; Conner, P.; Iwarsson, E.
- Abstract
The article is a reply to a correspondence regarding a study on whole-genome sequencing (WGS) in prenatally detected congenital malformations. The authors explain that they offer WGS instead of exome sequencing (ES) to patients in the Stockholm region and are working on implementing WGS in routine diagnosis. They highlight the comprehensiveness of WGS in detecting copy-number variants (CNVs) and single-nucleotide variants, as well as its ability to offer targeted evaluation for specific repeat expansions and uniparental disomy. The authors acknowledge challenges in WGS, such as detecting variants of uncertain significance (VUS) and the turnaround time (TAT) for analysis, which can vary depending on the severity of the malformation and the parents' decision regarding continuation of the pregnancy. They conclude that WGS is an important clinical tool but further research is needed for its implementation.
- Subjects
WHOLE genome sequencing; ABORTION; OBSTETRICS; FETAL abnormalities; MEDICAL specialties &; specialists
- Publication
Ultrasound in Obstetrics & Gynecology, 2024, Vol 63, Issue 5, p706
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.27651