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This report aims to illustrate the diagnostic challenges of prenatal genetic testing and the potential of whole-exome sequencing.

February 2, 2026Open Access

Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing: A Case Report

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Case report demonstrates exome sequencing identifying a genetic disorder in an infant after inconclusive tests, highlighting its importance.

This report aims to illustrate the diagnostic challenges of prenatal genetic testing and the potential of whole-exome sequencing.
Analyzed prenatal tests including karyotyping and genome-wide chromosomal sequencing.
Performed trio-based whole-exome sequencing postnatally.
Identified genetic variants and assessed their significance.
Detected several copy number variants, but they were of uncertain significance.
Established a diagnosis of DDX3X-related neurodevelopmental disorder through identification of a pathogenic variant.
Highlighted the limitations of standard prenatal testing in diagnosing complex genetic conditions.

Panova et al. (2026) studied this question.

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Case report demonstrates exome sequencing identifying a genetic disorder in an infant after inconclusive tests, highlighting its importance.