Objective: The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis.Methods: We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules.Results: Our study included 54 fetuses with CR: 32 pregnancies were terminated, 22 were delivered, 35 were diagnosed with TSC, 13 had simple CR without TSC, and in 6 cases, remained unclear whether TSC accompanied the CR due to insufficient evidence. 45 fetuses (83.3%) had multiple lesions, while 9 fetuses (16.7%) presented with a single lesion. Twelve cases had intracardiac complications, all associated with multiple lesions, and these cases exhibited larger maximum tumor diameters than the non-complicated group. Multiple intracardiac lesions were more prevalent in the TSC group than in the simple CR group. However, there was no significant difference in maximum tumor diameter between the two groups. Among 30 fetuses who underwent fetal brain MRI, 23 were eventually diagnosed with TSC, with 11 fetuses showing intracranial sclerosis nodules by ultrasound and 15 by MRI, and the diagnostic consistency was moderate (k = 0.60). Twenty-two fetuses were born and followed up for 6–36 months. CR lesions diminished or disappeared in 18 infants (81.8%), while they remained unchanged in 4 infants (18.2%). Ten out of 12 (83.3%) surviving children diagnosed with TSC developed epilepsy, and 7 (58.3%) had neurodevelopmental dysfunction.Conclusions: The majority of CR cases involve multiple lesions, which are a primary risk factor for TSC. Through prenatal ultrasound examination is crucial for assessing fetal CR prognosis. Although ultrasound combined with MRI can detect intracranial sclerosis nodules in TSC fetuses, its sensitivity is limited. TSC gene sequencing is an essential diagnostic method. Simple CR cases without TSC generally have a favorable prognosis.

Objective: The objective of the study is to explore the value of the four-section approach in detecting fetal heart defects in the first trimester (11–13⁺⁶ weeks), analyze the reasons for the inconsistency between the results of ultrasound examination in the first trimester and subsequent verification, and describe the most common abnormal flow patterns of four sections.Materials and methods: Between June 2019 and June 2021, a prenatal four-section approach (upper abdominal transverse section, four-chamber section, three vessel–trachea section, and bilateral subclavian artery section) with verification results in early pregnancy was analyzed.Results: In total, 9,533 fetuses were included. Finally, 176 fetuses with congenital heart disease (CHD), containing 34 types, were identified. The total detection rate of cardiac abnormalities was 1.85%. 102 cases were accurately diagnosed by ultrasonography during early pregnancy. A total of 74 fetuses who had inconsistent results between fetal cardiac ultrasound and verification in early pregnancy were reported, of which the cases of 22 fetuses were inconsistent due to disease evolution and progression and the cases of 52 fetuses were inconsistent due to missed diagnosis and misdiagnosis. The sensitivity, specificity, positive predictive value, and negative predictive value of the four-section approach were 67.05%, 99.96%, 96.58%, and 99.33%, respectively. In this study, a total of 30 abnormal ultrasonic imaging patterns in four sections were summarized.Conclusion: We confirmed that the four-section approach in early pregnancy has a good diagnostic efficacy for fetal CHD. Intrauterine evolution of the fetal heart, missed diagnosis, and misdiagnosis are the reasons for the inconsistency between the results of early pregnancy ultrasound and subsequent verification. This study also presents the abnormal imaging patterns of four scan sections of CHD in early pregnancy, which are instructive for the rapid identification and diagnosis of CHD in the first trimester.

Objectives: This study aims to investigate the efficacy of prenatal ultrasonography in diagnosing the anomalous origin of the fetal pulmonary artery (AOFPA).Methods: A total of 26 AOFPA cases were retrospectively analyzed from January 2014 to January 2023. The features of the AOFPA were characterized by comparing the prenatal ultrasonic data with the results of anatomical casting after pregnancy termination or postnatal imaging and surgical intervention. Missed diagnoses and misdiagnoses were expounded.Results: Of the 26 AOFPA cases, there were 13 cases of pulmonary artery sling, 8 cases of anomalous origin of the unilateral pulmonary artery, and five cases of unilateral absence of the pulmonary artery; 17 cases received pathological anatomy and casting after pregnancy termination, and nine cases were confirmed by postnatal imaging and surgery. Nineteen cases were accurately prenatally diagnosed (19/26, 73.1%), and seven cases were missed or misdiagnosed (7/26, 26.9%).Conclusions: Prenatal ultrasonography has a favorable diagnostic efficacy for anomalous origin of the fetal pulmonary artery. The absence of either the left or right pulmonary artery from the image of pulmonary artery bifurcation may indicate origin abnormalities of the pulmonary artery in fetuses, which signifies the necessity to detect the abnormal origin of the pulmonary artery on the affected side and other potential intracardiac malformation complications.

It is still challenging to diagnose biliary atresia (BA) in current clinical practice. The study aimed to develop a multimodal model incorporated with uncertainty estimation by integrating sonographic images and clinical information to help diagnose BA. Multiple models were trained on 384 infants and validated externally on 156 infants. The model fused with sonographic images and clinical information yielded best performance, with an area under the curve (AUC) of 0.941 (95% CI: 0.891-0.972) on the external dataset. Moreover, the model based on sonographic video still yielded AUC of 0.930 (0.876-0.966). By excluding 39 cases with high uncertainty (>0.95), accuracy of the model improved from 84.6% to 91.5%. In addition, six radiologists with different experiences showed improved diagnostic performance (mean AUC increase: 0.066) when aided by the model. This fusion model incorporated with uncertainty estimation could potentially help radiologists identify BA more accurately and efficiently in real clinical practice.

Objective: To systematically verify the accuracy of a four-step prenatal ultrasonography in diagnosing fetal total anomalous pulmonary venous connection (TAPVC).Methods: A total of 62 TAPVC fetuses received prenatal ultrasonography and were confirmed by postnatal echocardiography, surgery, or postabortion autopsy. The suspected TAPVC fetuses were further screened by a four-step prenatal ultrasonography for TAPVC classification, pulmonary venous obstruction, and the associated malformations, and followed postpartum. The sonographic features, clinical data, and prognosis of the TAPVC fetuses were retrospectively analyzed.Results: Of the 62 TAPVC fetuses, supracardiac TAPVC was found in 20 cases, intracardiac TAPVC in 12, infracardiac TAPVC in 21, and mixed TAPVC in 9. A total of 30 cases with right atrium isomerism were correctly diagnosed. Of the 11 cases with other intracardiac and extracardiac malformations, 1 case was missed to be diagnosed. Of the 21 isolated TAPVC cases, 6 were missed prenatally and 1 case was prenatally diagnosed as intracardiac and postnatally proved to be mixed (intracardiac type + supracardiac type) by echocardiography. Of the 13 TAPVC live births, 4 infants died in the neonatal period without operation. Of the nine infants undergoing the operation, five recuperated and survived; one survived but had complications with superior vena cava obstruction and collateral circulation formation, and three died postoperatively.Conclusion: The four-step prenatal ultrasound procedure can comprehensively and systematically evaluate fetal TAPVC, detailing the classification, potential obstruction, and associated malformations. It provides substantial support for subsequent prenatal counseling and neonatal assessment. The retrospective analysis also reveals that isolated TAPVC is more prone to be missed in diagnosis.