Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing
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The authors aimed to evaluate the effectiveness of postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with structural anomalies and nondiagnostic prenatal genetic testing. They found that 41% of the children underwent reassessment, leading to genetic diagnoses in 27% of those who had pES reinterpretation, suggesting that a structured approach to postnatal follow-up can yield valuable insights in these complex cases.
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