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Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Prenatal diagnosis - 1 Nov 2024

Brabbing-Goldstein Dana, Bazak Lily, Ruhrman-Shahar Noa, Lidzbarsky Gabriel Arie, Orenstein Naama, Lifshiz-Kalis Marina, Asia-Batzir Nurit, Goldberg Yael, Basel-Salmon Lina

Abstract excerpt

OBJECTIVE: To investigate how many novel pathogenic (P) and likely pathogenic (LP) nonprotein-truncating or noncanonical splicing variants would be classified as variants of unknown significance (VUS) if they were detected in fetuses without abnormalities. METHODS: The study included 156 patients with neurodevelopmental disorders diagnosed through postnatal exome sequencing. Causative P/LP nonprotein-truncating...

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PMID: 39237446
DOI: 10.1002/pd.6659

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