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Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

Abstract : Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming. We have developed a next-generation sequencing (NGS) panel to investigate metabolic causes of NIHF, ascites, and polyhydramnios associated to another fetal abnormality.
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02356382
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Submitted on : Friday, November 8, 2019 - 4:56:47 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:47 AM

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Bénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, Jelena Martinovic, Ferielle Louillet, et al.. Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. Clinica Chimica Acta, Elsevier, 2018, 481, pp.1-8. ⟨10.1016/j.cca.2018.02.023⟩. ⟨hal-02356382⟩

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