Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.
R Sahithi Rathod, Geeta Kolar, Suseela Vavilala et al.
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Case in brief
This case series presents four fetuses with atypical prenatal phenotypes diagnosed through exome/genome sequencing. Notable findings included heterotaxy with complex heart disease, isolated long bone shortening, subtle CNS anomalies, and recurrent contractures. The identification of pathogenic variants in genes such as BBS1 and SLC26A2 underscores the importance of genomic sequencing in prenatal diagnosis and genetic counseling.
Diagnostic / clinical pearl
Clinicians should consider genomic sequencing for atypical prenatal presentations, as traditional imaging may not reveal underlying genetic conditions.
Why it matters
This case series emphasizes the evolving nature of prenatal phenotypes in genetic disorders, highlighting the limitations of imaging-based diagnosis.