Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV-seq and Trio-ES
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The authors aimed to evaluate the clinical characteristics, genomic landscape, and perinatal outcomes of fetal polydactyly using combined CNV-seq and trio-exome sequencing. They found that non-isolated cases with specific anatomical features had a significantly higher genetic diagnostic yield and poorer pregnancy outcomes compared to isolated cases. This study highlights the importance of integrating detailed prenatal phenotyping with genomic analysis to enhance diagnostic accuracy and inform clinical management.
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