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Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1

Familiari, A; Di Ilio, C; Dall’Asta, A; Corno, E; Ramirez Zegarra, R; Di Pasquo, E; Fanelli, T; Minopoli, M; Thilaganathan, B; Scala, C; et al. Familiari, A; Di Ilio, C; Dall’Asta, A; Corno, E; Ramirez Zegarra, R; Di Pasquo, E; Fanelli, T; Minopoli, M; Thilaganathan, B; Scala, C; Prefumo, F; Raffaelli, R; Bovino, A; Quarello, E; Binder, J; Falcone, V; Grisolia, G; Ramkrishna, J; Meagher, S; Tran, HE; Bizzarri, C; Vagni, M; Boldrini, L; Volpe, P; Ghi, T (2026) Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1. Radiology: Artificial Intelligence. e250394. ISSN 2638-6100 https://doi.org/10.1148/ryai.250394
SGUL Authors: Thilaganathan, Baskaran

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Abstract

Purpose To develop a deep learning algorithm to automatically assess the posterior fossa on first-trimester US screening scans and identify open spina bifida (OSB) and cystic posterior fossa (CPF) anomalies. Materials and Methods This is the retrospective part of an international study involving 10 fetal medicine centers. Normal and abnormal (OSB, CPF anomaly) midsagittal fetal brain US images acquired between 11 and 14 weeks of gestation (July 2009-January 2024) with confirmed diagnosis at follow-up were evaluated. Images were manually annotated to delineate the posterior fossa. The dataset was split into a training/validation (70%) and internal test (30%) set. Three convolutional neural networks were trained via threefold cross-validation on the training/validation set, with predictions on the internal test set obtained by ensemble averaging across folds. Model performance in detecting OSB and CPF anomalies was evaluated for the whole cohort and for fetuses with OSB or CPF anomalies separately. Results Images from 251 fetuses were analyzed (mean gestational age, 12.7±0.65 weeks; 150 normal, 101 abnormal: 43 OSB, 58 CPF anomalies). On the internal test, the MobileNetV3 Large Weights achieved the best performance (area under the receiver operating characteristic curve, 0.94 [95% CI: 0.88, 0.99]; accuracy, 88% (67/76); recall, 81% (25/31); specificity, 93% (42/45); precision, 89% (25/28); NPV, 88% (42/48); and F1-score, 0.85). OSB was classified more accurately (93% (52/56) vs 88% (57/65), P = .38) and with higher recall (91% (10/11) versus 75% (15/20), P = .38 although the difference was not significant. Conclusion MobileNetV3 Large Weights accurately assessed the fetal posterior fossa between 11 and 14 weeks of gestation, distinguishing normal images from those showing OSB or CPF anomalies.

Item Type: Article
Additional Information: © 2025 by the Radiological Society of North America, Inc.
SGUL Research Institute / Research Centre: Academic Structure > Cardiovascular & Genomics Research Institute
Academic Structure > Cardiovascular & Genomics Research Institute > Vascular Biology
Journal or Publication Title: Radiology: Artificial Intelligence
ISSN: 2638-6100
Language: en
Media of Output: Print-Electronic
Related URLs:
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
GR-2021-12374064Italian Ministry of HealthUNSPECIFIED
PubMed ID: 41563074
Dates:
Date Event
2026-01-21 Published Online
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/118429
Publisher's version: https://doi.org/10.1148/ryai.250394

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