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Article

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

Prenatal diagnosis - 1 May 2022

Sukenik-Halevy Rivka, Perlman Sharon, Ruhrman-Shahar Noa, Engel Offra, Orenstein Naama, Gonzaga-Jauregui Claudia, Shuldiner Alan R, Magal Nurit, Hagari Ofir, Azulay Noy, Lidzbarsky Gabriel Arie, Bazak Lily, Basel-Salmon Lina

Abstract excerpt

OBJECTIVE: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally by ES. METHODS: The medical files of a cohort of 138 patients diagnosed postnatally with a neurocognitive disorder using ES...

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Identifiers

PMID: 35032046
DOI: 10.1002/pd.6095
PMCID: PMC9303252

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