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 was 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 set (70%) and internal test set (30%). 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 [±SD], 12.7 weeks ± 0.65; 150 normal and 101 abnormal [43 OSB and 58 CPF anomalies] images). 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 of 76); recall, 81% (25 of 31); specificity, 93% (42 of 45); precision, 89% (25 of 28); negative predictive value, 88% (42 of 48); and F1 score, 0.85. OSB was classified more accurately (93% [52 of 56] vs 88% [57 of 65]; P = .38) and with higher recall (91% [10 of 11] vs 75% [15 of 20]), although the difference was not significant (P = .38). 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.
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, H. E., Bizzarri, C., Vagni, M., Boldrini, L., Volpe, P., Ghi, T., Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1, <<RADIOLOGY. ARTIFICIAL INTELLIGENCE>>, 2026; 8 (2): N/A-N/A. [doi:10.1148/ryai.250394] [https://hdl.handle.net/10807/340423]
Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1
Familiari, AlessandraPrimo
;Di Pasquo, Elvira;Tran, Huong Elena;Vagni, Marica;Boldrini, Luca;Ghi, Tullio
2026
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 was 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 set (70%) and internal test set (30%). 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 [±SD], 12.7 weeks ± 0.65; 150 normal and 101 abnormal [43 OSB and 58 CPF anomalies] images). 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 of 76); recall, 81% (25 of 31); specificity, 93% (42 of 45); precision, 89% (25 of 28); negative predictive value, 88% (42 of 48); and F1 score, 0.85. OSB was classified more accurately (93% [52 of 56] vs 88% [57 of 65]; P = .38) and with higher recall (91% [10 of 11] vs 75% [15 of 20]), although the difference was not significant (P = .38). 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.
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