Xu Wu, Ling Wen, Ren Xiaolong, Lyu Guorong, Ye Fengying, Lai Yuanfang, Zhou Luyao, Chen Lizhu, Weng Zongjie
Department of Medical Ultrasonics, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Department of Ultrasound, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Prenat Diagn. 2025 Oct;45(11):1466-1475. doi: 10.1002/pd.6865. Epub 2025 Jul 25.
To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities.
Data of pregnant women who underwent routine fetal ultrasound screening during the second trimester (18-27 weeks) were retrospectively analyzed in the 2018-2022 period. Fetuses with suspected biliary abnormalities in the second trimester were identified, and the cases were categorized into 5 groups: enlarged fetal gallbladder, small fetal gallbladder, non-visualized fetal gallbladder, hepatic hilar cyst, and fetal duplicated gallbladder. Follow-up assessments were conducted in the third trimester and postnatally.
Among the 339 cases with suspected fetal biliary abnormalities, 10 cases were postnatally diagnosed with BA. Among them, 2 cases (2.04%, 2/98) were in the small fetal gallbladder group, 3 cases (3.95%, 3/76) were in the non-visualized fetal gallbladder group, and 5 cases (20.83%, 5/24) were in the hepatic hilar cyst group. In the small fetal gallbladder, non-visualized fetal gallbladder, and total suspected fetal biliary abnormalities groups, the incidence of BA increased when accompanied by additional structural abnormalities compared with isolated cases (all p < 0.05). Within the small fetal gallbladder and non-visualized fetal gallbladder groups, a consistent feature associated with BA and gallbladder agenesis was the persistence of abnormal gallbladder size despite increasing gestational age. In the group with hepatic hilar cysts, significant prenatal differences between cystic BA and biliary dilatation were observed in cyst morphology, maximum diameter, changes in cyst size with gestational age, and fetal gallbladder size (p < 0.05). Cyst morphology, maximum diameter, and gallbladder size demonstrated potential in differentiating cystic BA from biliary dilatation. The combination of these three features achieved a sensitivity of 100% and a specificity of 94.7%.
Persistent small or non-visualized fetal gallbladder, along with specific hepatic hilar cyst and other structural abnormalities, are crucial prenatal ultrasound findings for early diagnosis of BA. Early and repeated assessments, incorporating multi-feature observations, are essential for improving differential diagnosis and enhancing optimal outcomes.
探讨产前超声特征在鉴别胎儿胆道异常中诊断胆道闭锁（BA）的预测潜力及其能力。
回顾性分析2018 - 2022年期间在孕中期（18 - 27周）接受常规胎儿超声筛查的孕妇数据。识别出孕中期疑似胆道异常的胎儿，并将病例分为5组：胎儿胆囊增大、胎儿胆囊缩小、未显示胎儿胆囊、肝门区囊肿和胎儿重复胆囊。在孕晚期及产后进行随访评估。
在339例疑似胎儿胆道异常病例中，10例产后被诊断为BA。其中，胎儿胆囊缩小组2例（2.04%，2/98），未显示胎儿胆囊组3例（3.95%，3/76），肝门区囊肿组5例（20.83%，5/24）。在胎儿胆囊缩小、未显示胎儿胆囊及所有疑似胎儿胆道异常组中，与孤立病例相比，伴有其他结构异常时BA的发生率增加（所有p < 0.05）。在胎儿胆囊缩小和未显示胎儿胆囊组中，与BA和胆囊发育不全相关的一个一致特征是，尽管孕周增加，但胆囊大小持续异常。在肝门区囊肿组中，囊性BA与胆道扩张在囊肿形态、最大直径、囊肿大小随孕周的变化以及胎儿胆囊大小方面存在显著的产前差异（p < 0.05）。囊肿形态、最大直径和胆囊大小在鉴别囊性BA与胆道扩张方面显示出潜力。这三个特征的组合实现了100%的敏感性和94.7%的特异性。
胎儿胆囊持续缩小或未显示，以及特定的肝门区囊肿和其他结构异常，是产前超声早期诊断BA的关键发现。早期和重复评估，结合多特征观察，对于改善鉴别诊断和提高最佳结局至关重要。
