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Updated: Feb 28, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A

Margarita Panova1, Hristo Ivanov2, Iglika Sotkova-Ivanova2

  • 1Department of Pediatrics "Prof. Dr. Ivan Andreev", Medical University Plovdiv, 4000 Plovdiv, Bulgaria.

Children (Basel, Switzerland)
|February 27, 2026
PubMed
Summary

Whole-exome sequencing (WES) is crucial for diagnosing monogenic neurodevelopmental disorders when standard prenatal tests fail. Early WES improves diagnosis, counseling, and clinical decisions for conditions like DDX3X-related disorder.

Keywords:
DDX3Xneurodevelopmental disorderprenatal diagnosisventriculomegalywhole-exome sequencing

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