Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

Key Points

• To compare the diagnostic utility of chromosomal microarray analysis with standard karyotype analysis for identifying genetic abnormalities in stillbirths.
• Comparative diagnostic evaluation of genetic yield between microarray analysis and karyotyping in stillbirth specimens.
• Assessed testing efficacy across tissue types, including nonviable samples, and in cases with congenital anomalies or uninformative karyotypes.
• Microarray analysis was more likely to yield a definitive genetic diagnosis compared with standard karyotype analysis.
• The diagnostic advantage of microarray testing was primarily driven by its ability to successfully analyze nonviable tissue and resolve cases with congenital anomalies or failed karyotypes.