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Article

Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.

European journal of medical genetics - 1 May 2020

Rinaldi Berardo, Race Valerie, Corveleyn Anniek, Van Hoof Evelien, Bauters Marijke, Van Den Bogaert Kris, Denayer Ellen, de Ravel Thomy, Legius Eric, Baldewijns Marcella, Aertsen Michael, Lewi Liesbeth, De Catte Luc, Breckpot Jeroen, Devriendt Koenraad

Abstract excerpt

The application of next-generation sequencing to fetal pathology has proved to increase the diagnostic yield in fetuses with abnormal ultrasounds. We retrospectively reviewed genetic data of 30 selected cases studied through targeted resequencing of OMIM genes. In our experience, clinical data proved to be essential to support diagnostic reasoning and enhance variants' assessment. The molecular diagnosis was...

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Source

Identifiers

PMID: 32058062
DOI: 10.1016/j.ejmg.2020.103875

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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