13Mar 2025
Expanded Genetic Testing Improves Diagnosis of Fetal Anomalies Post-Microarray

Expanded Genetic Testing Improves Diagnosis of Fetal Anomalies Post-Microarray

Expanded genetic testing significantly improves diagnostic yield in fetal anomalies. A study of 593 cases in Canadian Maritime Provinces (2014–2022) found a 7.5% diagnostic yield from microarray. Sequence-based testing (131 cases) improved yield to 38%, with highest success in intracranial, renal, and musculoskeletal anomalies. Targeted sequencing yielded 40%, while exome analysis outperformed gene panels (73% vs. 27%). A multidisciplinary approach enhances test selection in a public healthcare system.

  • #gynaecology - ivf

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