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Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.

Elizabeth WallE PetleyFionnuala MoneS DoyleL Hartles-SpencerS K AllenJ CastlemanT MartonD Williams
Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2024)
Genomic testing was a clinically useful addition to (but not a substitute for) postmortem examination in cases of perinatal death associated with structural anomaly. The MDT approach helped assess cases and plan appropriate follow-up. Expedited whole-genome sequencing or panel-agnostic analysis were most appropriate for heterogeneous presentations. This broad approach can also expand knowledge of prenatal phenotypes and detect novel disease genes, and should be a priority in future research. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.
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