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What is Prenatal Exome Sequencing for Congenital Anomalies about?

This paper discusses the clinical utility of prenatal exome sequencing (ES) for evaluating fetuses with congenital anomalies, highlighting its potential to improve diagnostic rates beyond standard chromosome testing. Prenatal ES can identify genetic changes in approximately 10% of cases where traditional methods have failed, providing crucial information for parental decision-making and future pregnancy planning. However, challenges remain regarding interpretation of results and the need for a multidiscipli

Author

Kalaivathanan Vathanan

Language

EN