Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Abstract excerpt

Prenatal diagnosis of genetic syndromes often relies on structural anomalies; however, many monogenic disorders show atypical or evolving prenatal phenotypes, limiting imaging-based diagnosis. We report four fetuses with atypical presentations diagnosed by exome/genome sequencing. Pathogenic variants were identified in BBS1, SLC26A2, POMT2, and COL25A1. Prenatal findings included heterotaxy with complex heart...

Topics

• Humans
• Female
• Phenotype
• Prenatal Diagnosis
• Pregnancy
• Exome Sequencing