Prenatal next generation sequencing in the fetus with congenital malformations. how can we improve clinical utility?

Mark Kilby; Fionnuala Mone; Sian  Morgan; Denise Williams

doi:10.1016/j.ajogmf.2023.100923

Prenatal next generation sequencing in the fetus with congenital malformations. how can we improve clinical utility?

Mark Kilby, Fionnuala Mone, Sian Morgan, Denise Williams

School of Medicine, Dentistry and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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Abstract

Fetal malformations have a variable prognosis which 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 improve clinical utility and impact.

Original language	English
Article number	100923
Journal	American Journal of Obstetrics and Gynecology
Early online date	08 Mar 2023
DOIs	https://doi.org/10.1016/j.ajogmf.2023.100923
Publication status	Early online date - 08 Mar 2023

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10.1016/j.ajogmf.2023.100923Licence: Unspecified

Prenatal next generation sequencing in the fetus with congenital malformations. how can we improve clinical utility?
Copyright 2023 Elsevier. This manuscript is distributed under a Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits distribution and reproduction for non-commercial purposes, provided the author and source are cited.
Accepted author manuscript, 194 KBLicence: CC BY-NC-ND

Cite this

@article{cd0e7aeb54cb4b40a54eba0755844741,

title = "Prenatal next generation sequencing in the fetus with congenital malformations. how can we improve clinical utility?",

abstract = "Fetal malformations have a variable prognosis which 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 improve clinical utility and impact.",

author = "Mark Kilby and Fionnuala Mone and Sian Morgan and Denise Williams",

year = "2023",

month = mar,

day = "8",

doi = "10.1016/j.ajogmf.2023.100923",

language = "English",

journal = "American Journal of Obstetrics and Gynecology",