Improved cystic hygroma detection from prenatal imaging using ultrasound-specific self-supervised representation learning

Fuente: arXiv
Saved in:
Bibliographic Details
Main Authors: Megahed, Youssef, Ducharme, Robin, Lee, Inok, Willner, Inbal, Chan, Adrian D. C., Walker, Mark, Hawken, Steven
Format: Preprint
Published: 2025
Subjects:
Online Access:
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1866914313372958720
author Megahed, Youssef
Ducharme, Robin
Lee, Inok
Willner, Inbal
Chan, Adrian D. C.
Walker, Mark
Hawken, Steven
author_facet Megahed, Youssef
Ducharme, Robin
Lee, Inok
Willner, Inbal
Chan, Adrian D. C.
Walker, Mark
Hawken, Steven
contents Cystic hygroma is a high-risk prenatal ultrasound finding that portends high rates of chromosomal abnormalities, structural malformations, and adverse pregnancy outcomes. Automated detection can increase reproducibility and support scalable early screening programs, but supervised deep learning methods are limited by small labelled datasets. This study assesses whether ultrasound-specific self-supervised pretraining can facilitate accurate, robust deep learning detection of cystic hygroma in first-trimester ultrasound images. We fine-tuned the Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE), pretrained on over 370,000 unlabelled ultrasound images, for binary classification of normal controls and cystic hygroma cases used in this study. Performance was evaluated on the same curated ultrasound dataset, preprocessing pipeline, and 4-fold cross-validation protocol as for the DenseNet-169 baseline, using accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve (ROC-AUC). Model interpretability was analyzed qualitatively using Score-CAM visualizations. USF-MAE outperformed the DenseNet-169 baseline on all evaluation metrics. The proposed model yielded a mean accuracy of 0.96, sensitivity of 0.94, specificity of 0.98, and ROC-AUC of 0.98 compared to 0.93, 0.92, 0.94, and 0.94 for the DenseNet-169 baseline, respectively. Qualitative Score-CAM visualizations of model predictions demonstrated clinical relevance by highlighting expected regions in the fetal neck for both positive and negative cases. Paired statistical analysis using a Wilcoxon signed-rank test confirmed that performance improvements achieved by USF-MAE were statistically significant (p = 0.0057).
format Preprint
id arxiv_https___arxiv_org_abs_2512_22730
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle Improved cystic hygroma detection from prenatal imaging using ultrasound-specific self-supervised representation learning
Megahed, Youssef
Ducharme, Robin
Lee, Inok
Willner, Inbal
Chan, Adrian D. C.
Walker, Mark
Hawken, Steven
Computer Vision and Pattern Recognition
Artificial Intelligence
Image and Video Processing
Cystic hygroma is a high-risk prenatal ultrasound finding that portends high rates of chromosomal abnormalities, structural malformations, and adverse pregnancy outcomes. Automated detection can increase reproducibility and support scalable early screening programs, but supervised deep learning methods are limited by small labelled datasets. This study assesses whether ultrasound-specific self-supervised pretraining can facilitate accurate, robust deep learning detection of cystic hygroma in first-trimester ultrasound images. We fine-tuned the Ultrasound Self-Supervised Foundation Model with Masked Autoencoding (USF-MAE), pretrained on over 370,000 unlabelled ultrasound images, for binary classification of normal controls and cystic hygroma cases used in this study. Performance was evaluated on the same curated ultrasound dataset, preprocessing pipeline, and 4-fold cross-validation protocol as for the DenseNet-169 baseline, using accuracy, sensitivity, specificity, and the area under the receiver operating characteristic curve (ROC-AUC). Model interpretability was analyzed qualitatively using Score-CAM visualizations. USF-MAE outperformed the DenseNet-169 baseline on all evaluation metrics. The proposed model yielded a mean accuracy of 0.96, sensitivity of 0.94, specificity of 0.98, and ROC-AUC of 0.98 compared to 0.93, 0.92, 0.94, and 0.94 for the DenseNet-169 baseline, respectively. Qualitative Score-CAM visualizations of model predictions demonstrated clinical relevance by highlighting expected regions in the fetal neck for both positive and negative cases. Paired statistical analysis using a Wilcoxon signed-rank test confirmed that performance improvements achieved by USF-MAE were statistically significant (p = 0.0057).
title Improved cystic hygroma detection from prenatal imaging using ultrasound-specific self-supervised representation learning
topic Computer Vision and Pattern Recognition
Artificial Intelligence
Image and Video Processing
url https://arxiv.org/abs/2512.22730