| Autor: |
Westenius, E., Conner, P., Iwarsson, E. |
| Předmět: |
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| Zdroj: |
Ultrasound in Obstetrics & Gynecology; May2024, Vol. 63 Issue 5, p704-705, 2p |
| Abstrakt: |
The article is a reply to a correspondence regarding a study on whole-genome sequencing (WGS) in prenatally detected congenital malformations. The study aimed to investigate the diagnostic yield of clinical WGS and evaluate its workflow. The authors explained that the diagnostic yield of WGS depends on the severity of the phenotypes included and the method used. They also discussed the importance of considering the indication for genetic analysis during the prenatal period, as extensive analysis may not be valuable in cases with severe or potentially lethal phenotypes. The authors concluded that WGS is a comprehensive and clinically useful genetic analysis, but further research and experience are needed for its implementation in routine prenatal diagnosis. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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