Markova Desislava, Markova Tsvetomira, Pandya Pranav, David Anna L
Burjeel Hospital, Fetal Medicine Unit, Abu Dhabi, UAE.
Fetal Medicine Unit, Elizabeth Garrett Anderson Wing, University College Hospital, London, UK.
Prenat Diagn. 2025 Feb;45(2):185-195. doi: 10.1002/pd.6719. Epub 2024 Dec 19.
To describe postnatal outcome following the prenatal diagnosis of an abnormal fetal gallbladder.
We conducted a systematic review of studies from January 1980 to January 2023 that described FGB abnormalities, which included agenesis or non-visualisation, abnormal content presence of sludge, abnormal shape or size and abnormal position, and postnatal outcome to determine the association with pathology.
In 51 studies, 842 fetuses had abnormal FGB. Non-visualisation of the FGB was the most common diagnosis (521 fetuses, mean gestational age 21.6 weeks, range 14-29). The FGB was subsequently visualised prenatally in 128 out of 521 cases (24.6%; 95% CI, 20.9%-28.3%). Of the 393 cases with persistent FGB non-visualisation (75.4%; 95% CI, 71.7-79.1), 48 cases (12.2%; 95% CI, 9.0-15.5) underwent termination of pregnancy (TOP) with FGB agenesis confirmed in 16 out of 26 fetuses that had a postmortem examination (61.5%; 95% CI, 42.8-80.2). After excluding cases with missing outcomes (n = 121), postnatal ultrasound was performed in 82.4% of cases with persistent non-visualised FGB (224/272; 95% CI, 77.8%-86.9%). The gallbladder was not visualised in 63.4% (142/224; 95% CI, 57.1-69.7), confirming GB agenesis. This was an isolated finding in 41.1% of cases (92/224; 95% CI, 34.6-47.5). Of 272 known outcomes, biliary atresia, cystic fibrosis, and structural or chromosomal abnormalities were diagnosed in 8.5% (n = 23), 12.5% (n = 34), 18.0% (n = 49) and 6.3% (n = 17) cases, respectively. The sensitivity (true positive rate) of ultrasound for GB agenesis in fetuses with persistently non-visualised FGB was 58.1% (158/272; 95% CI, 52.2%-64.0%). Fetal gallbladder stones/sludge were described in 100 fetuses mainly in the third trimester of pregnancy (mean gestational age 33.8 weeks). Resolution of postnatally followed up cases occurred in around one-third of the cases (37.3%) within 1 month after birth. There was a low reported association with severe conditions (2%).
This systematic review and meta-analysis found that when the fetal gallbladder was absent in mid-trimester, it was visualised in subsequent fetal ultrasound examinations in around 25% of cases. If persistently absent on prenatal ultrasound, the confirmed rate of GB agenesis was around 50%, with the neonates having biliary atresia, cystic fibrosis, or structural abnormalities. Because of the association with severe conditions, if persistent FGB agenesis is suspected, prenatal diagnosis should be offered. FGB abnormalities such as stones/sludge tended to resolve by 1 year of age with around half of all cases resolving by 1 month postnatal.
描述胎儿胆囊异常产前诊断后的产后结局。
我们对1980年1月至2023年1月期间描述胎儿胆囊异常（包括胆囊缺如或未显示、存在异常内容物如胆泥、形状或大小异常以及位置异常）及产后结局以确定与病理学关联的研究进行了系统评价。
在51项研究中，842例胎儿存在胎儿胆囊异常。胆囊未显示是最常见的诊断（521例胎儿，平均孕周21.6周，范围14 - 29周）。521例中有128例（24.6%；95%可信区间，20.9% - 28.3%）随后在产前再次显示出胆囊。在393例持续胆囊未显示的病例中（75.4%；95%可信区间，71.7 - 79.1），48例（12.2%；95%可信区间，9.0 - 15.5）接受了妊娠终止，26例进行尸检的胎儿中有16例（61.5%；95%可信区间，42.8 - 80.2）确诊为胆囊缺如。在排除结局缺失的病例（n = 121）后，82.4%持续胆囊未显示的病例（224/272；95%可信区间，77.8% - 86.9%）进行了产后超声检查。63.4%（142/224；95%可信区间，57.1 - 69.7）的病例胆囊未显示，确诊为胆囊缺如。这在41.1%的病例（92/224；95%可信区间，34.6 - 47.5）中是孤立发现。在272例已知结局中，分别有8.5%（n = 23）、12.5%（n = 34）、18.0%（n = 49）和6.3%（n = 17）的病例被诊断为胆道闭锁、囊性纤维化、结构或染色体异常。对于持续胆囊未显示的胎儿，超声诊断胆囊缺如的敏感性（真阳性率）为58.1%（158/272；95%可信区间，52.2% - 64.0%）。100例胎儿有胎儿胆囊结石/胆泥，主要发生在妊娠晚期（平均孕周33.8周）。产后随访病例中约三分之一（37.3%）在出生后1个月内病情缓解。与严重疾病的关联报道较少（2%）。
本系统评价和荟萃分析发现，孕中期胎儿胆囊缺如时，约25%的病例在随后的胎儿超声检查中再次显示出胆囊。如果产前超声持续显示胆囊缺如，胆囊缺如的确诊率约为50%，新生儿可能患有胆道闭锁、囊性纤维化或结构异常。由于与严重疾病有关联，如果怀疑持续胆囊缺如，应进行产前诊断。胎儿胆囊结石/胆泥等异常情况在1岁时往往会缓解，约一半病例在出生后1个月内缓解
