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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) PM examination in perinatal cases associated with structural anomalies. The MDT model 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 prenatal phenotypes and detect novel disease genes and should be a priority for future research. This article is protected by copyright. All rights reserved.
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