Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies
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The authors aimed to determine whether whole exome sequencing (ES) provides significant advantages over targeted gene panels for identifying genetic causes of fetal anomalies. Their analysis of 109 cases revealed that while ES identified pathogenic variants in 18% of cases, commercial gene panels would have detected 88% of these variants, particularly excelling in isolated skeletal anomalies. The findings suggest that gene panels may be more effective than ES for certain types of fetal anomalies, especially isolated conditions.
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