超声检查发现胎儿胆囊异常后的产后结局:系统回顾和荟萃分析。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2025-02-01 Epub Date: 2024-12-19 DOI:10.1002/pd.6719
Desislava Markova, Tsvetomira Markova, Pranav Pandya, Anna L David
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引用次数: 0

摘要

目的:描述胎儿胆囊异常产前诊断后的产后结局。方法:我们对1980年1月至2023年1月期间描述FGB异常的研究进行了系统回顾,包括发育不全或未可见、污泥含量异常、形状或大小异常、位置异常以及出生后结局,以确定与病理的关系。结果:51项研究中,842例胎儿FGB异常。FGB未显像是最常见的诊断(521例胎儿,平均胎龄21.6周,范围14-29)。521例中有128例(24.6%;95% ci, 20.9%-28.3%)。在393例持续性FGB不可见的病例中(75.4%;95% CI, 71.7-79.1), 48例(12.2%;95% CI, 9.0-15.5)终止妊娠(TOP), 26例尸检胎儿中有16例确认FGB发育不全(61.5%;95% ci, 42.8-80.2)。在排除结果缺失的病例(n = 121)后,82.4%的持续性未显影FGB患者进行了产后超声检查(224/272;95% ci, 77.8%-86.9%)。63.4% (142/224;95% CI, 57.1-69.7),证实GB发育。41.1%的病例(92/224;95% ci, 34.6-47.5)。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、囊性纤维化和结构或染色体异常。超声对持续不可见FGB胎儿GB发育的敏感性(真阳性率)为58.1% (158/272;95% ci, 52.2%-64.0%)。在100例主要发生在妊娠晚期(平均胎龄33.8周)的胎儿中描述了胎儿胆囊结石/污泥。产后随访病例中约三分之一(37.3%)在出生后1个月内得到解决。与严重疾病的相关性较低(2%)。结论:本系统综述和荟萃分析发现,当胎儿胆囊在妊娠中期缺失时,在随后的胎儿超声检查中可见约25%的病例。如果在产前超声检查中持续缺失,则确认的GB发育率约为50%,新生儿有胆道闭锁、囊性纤维化或结构异常。由于与严重的疾病有关,如果怀疑持续的FGB发育,应提供产前诊断。FGB异常如结石/污泥倾向于在1岁时解决,大约一半的病例在出生后1个月解决。
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Postnatal Outcome After Ultrasound Findings of an Abnormal Fetal Gallbladder: A Systematic Review and Meta-Analysis.

Objective: To describe postnatal outcome following the prenatal diagnosis of an abnormal fetal gallbladder.

Methods: 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.

Results: 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%).

Conclusions: 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.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
期刊介绍: Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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