Advances in Fetal Imaging

Rubesova, Erika; Barth, Richard A.

doi:10.1055/s-0034-1371712

Cited by 10 publications

References 54 publications

(62 reference statements)

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Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

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Friedman

2014

Prenatal Diagnosis

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Massively parallel sequencing has revolutionized our understanding of Mendelian disorders, and many novel genes have been discovered to cause disease phenotypes when mutant. At the same time, next-generation sequencing approaches have enabled non-invasive prenatal testing of free fetal DNA in maternal blood. However, little attention has been paid to using whole exome and genome sequencing strategies for gene identification in fetal disorders that are lethal in utero, because they can appear to be sporadic and Mendelian inheritance may be missed. We present challenges and advantages of applying next-generation sequencing approaches to gene discovery in fetal malformation phenotypes and review recent successful discovery approaches. We discuss the implication and significance of recessive inheritance and cross-species phenotyping in fetal lethal conditions. Whole exome sequencing can be used in individual families with undiagnosed lethal congenital anomaly syndromes to discover causal mutations, provided that prior to data analysis, the fetal phenotype can be correlated to a particular developmental pathway in embryogenesis. Cross-species phenotyping allows providing further evidence for causality of discovered variants in genes involved in those extremely rare phenotypes and will increase our knowledge about normal and abnormal human developmental processes. Ultimately, families will benefit from the option of early prenatal diagnosis.

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Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes

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Friedman

2014

Prenatal Diagnosis

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Three‐dimensional real and virtual models in fetal surgery: a real vision

Okpaise

Tonni

Werner

et al. 2024

Ultrasound in Obstet & Gyne

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While relatively new, fetal surgery has become an indispensable part of the field of Obstetrics as it allows potentially life‐threatening conditions to be corrected in utero. Imaging modalities such as ultrasound, magnetic resonance imaging, and computer tomography have become staples in fetal imaging, as they allow for comprehensive analysis of the fetal anatomy. Uses of these modalities can range from chromosomal diagnosis to surgical planning. Scientific development has not only allowed for visualization in the three‐dimensional plane, but the implementation of virtual reality technology is also now a possibility. It is our belief that integrating virtual reality technology will help overcome hurdles currently faced by fetal surgeons including candidate selection and clearly observing fetal anatomy. Training opportunities are also probably, as surgeons and residents can use models created during these virtual reality experiences to study and prepare for complications that may arise during surgical intervention.This article is protected by copyright. All rights reserved.

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