Objectives This study aimed to evaluate diaphragmatic defects in fetuses with congenital diaphragmatic hernia (CDH) using three-dimensional (3D) MRI reconstruction for visualization and quantification, and to investigate its correlation with neonatal mortality. Materials and methods In this retrospective diagnostic accuracy study, fetuses with prenatally diagnosed left-sided CDH (LCDH) underwent 3D reconstruction of the diaphragm and defect using ITK-SNAP software. The defect-to-diaphragm ratio (DDR) was calculated from measured sizes of the diaphragm and defect. We assessed the correlation between DDR and intraoperative Congenital Diaphragmatic Hernia Study Group (CDHSG) classification, investigated the prognostic value of DDR for neonatal mortality, and compared its predictive performance with that of observed/expected total fetal lung volume (o/e TFLV), percentage of predicted lung volume (PPLV), and observed/expected lung-to-head ratio (o/e LHR). Results Ninety fetuses with LCDH underwent diaphragmatic 3D reconstruction and DDR measurement. The prenatal 3D MRI-based CDHSG classification showed substantial agreement with the intraoperative CDHSG classification (weighted kappa = 0.829; p < 0.001). Higher DDR was associated with lower neonatal survival in Kaplan–Meier analysis. The DDR (AUC = 0.919; 95% CI: 0.862–0.977) demonstrated comparable predictive value to other imaging indicators, including o/e TFLV (AUC = 0.905; 95% CI: 0.846–0.965), PPLV (AUC = 0.884; 95% CI: 0.814–0.953), and o/e LHR (AUC = 0.881; 95% CI: 0.812–0.951), in predicting neonatal mortality. Conclusion 3D MRI reconstruction enables visualization and quantitative assessment of diaphragmatic defects in fetuses with CDH. DDR is a valuable predictor of neonatal mortality and may aid prenatal risk stratification. Key Points <Emphasis Type="BoldItalic">Question</Emphasis> The lack of an objective prenatal method for assessing diaphragmatic defect severity in CDH is addressed through 3D fetal MRI reconstruction. <Emphasis Type="BoldItalic">Findings</Emphasis> The DDR obtained from 3D MRI correlates with intraoperative CDHSG classification and is a significant predictor of neonatal mortality. <Emphasis Type="BoldItalic">Clinical relevance</Emphasis> DDR enables prenatal quantification of diaphragmatic defect severity and is associated with neonatal survival, offering a prenatal and objective alternative to postnatal CDHSG classification. These advantages support its utility in risk stratification and perinatal management. Graphical Abstract

Three-dimensional MRI reconstruction of diaphragmatic defects in fetuses with congenital diaphragmatic hernia and mortality prediction

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发表日期：

2025年11月24日

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Qiaoli Yang,
Song Peng,
Gongli Chen,
Wei Tang,
Yali Gao,
Jialiang Fu

摘要

Objectives

This study aimed to evaluate diaphragmatic defects in fetuses with congenital diaphragmatic hernia (CDH) using three-dimensional (3D) MRI reconstruction for visualization and quantification, and to investigate its correlation with neonatal mortality.

Materials and methods

In this retrospective diagnostic accuracy study, fetuses with prenatally diagnosed left-sided CDH (LCDH) underwent 3D reconstruction of the diaphragm and defect using ITK-SNAP software. The defect-to-diaphragm ratio (DDR) was calculated from measured sizes of the diaphragm and defect. We assessed the correlation between DDR and intraoperative Congenital Diaphragmatic Hernia Study Group (CDHSG) classification, investigated the prognostic value of DDR for neonatal mortality, and compared its predictive performance with that of observed/expected total fetal lung volume (o/e TFLV), percentage of predicted lung volume (PPLV), and observed/expected lung-to-head ratio (o/e LHR).

Results

Ninety fetuses with LCDH underwent diaphragmatic 3D reconstruction and DDR measurement. The prenatal 3D MRI-based CDHSG classification showed substantial agreement with the intraoperative CDHSG classification (weighted kappa = 0.829; p < 0.001). Higher DDR was associated with lower neonatal survival in Kaplan–Meier analysis. The DDR (AUC = 0.919; 95% CI: 0.862–0.977) demonstrated comparable predictive value to other imaging indicators, including o/e TFLV (AUC = 0.905; 95% CI: 0.846–0.965), PPLV (AUC = 0.884; 95% CI: 0.814–0.953), and o/e LHR (AUC = 0.881; 95% CI: 0.812–0.951), in predicting neonatal mortality.

Conclusion

3D MRI reconstruction enables visualization and quantitative assessment of diaphragmatic defects in fetuses with CDH. DDR is a valuable predictor of neonatal mortality and may aid prenatal risk stratification.

Key Points

Question The lack of an objective prenatal method for assessing diaphragmatic defect severity in CDH is addressed through 3D fetal MRI reconstruction.

Findings The DDR obtained from 3D MRI correlates with intraoperative CDHSG classification and is a significant predictor of neonatal mortality.

Clinical relevance DDR enables prenatal quantification of diaphragmatic defect severity and is associated with neonatal survival, offering a prenatal and objective alternative to postnatal CDHSG classification. These advantages support its utility in risk stratification and perinatal management.

Graphical Abstract