Prenatal Nonvisualization of the Gallbladder: A Diagnostic and Prognostic Dilemma

Ruiz, Alba; Robles, Ana; Salva, Francisca; Filgueira, Ana; Diaz, C. Balibe; Juan, M.; Tubau, A.

doi:10.1159/000456614

Cited by 5 publications

(2 citation statements)

References 19 publications

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“…[2728] However, the diagnosis of the disorder is not easy because of the highly variable gallbladder morphology. Estimation of digestive enzyme gamma-glutamyl transpeptidase in amniotic fluid[29] or fetal blood[30] was reported as useful. MRI can improve the prenatal detection and can differentiate between the atresia and choledochal cyst.…”

Section: Discussionmentioning

confidence: 99%

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Agarwal

Agarwal²

2019

Indian Journal of Radiology and Imaging

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We present a prenatally diagnosed case of heterotaxy syndrome (HS) in which left atrial isomerism (LAI) was associated with an aneurysmal enlargement of the right atrial appendage (RAA). Although LAI is usually associated with complex cardiac and extracardiac anomalies, the association of LAI and right atrial appendage aneurysm (RAAA) is exceptional. Congenital RAAA itself is an idiopathic, very rare cardiac anomaly characterized by the enlargement of the appendage in the absence of any other cardiac or extra-cardiac defect. The prognosis of the heterotaxy is poor with associated major cardiac malformations and even cases with minor cardiac anomalies are at risk postnatally for complications like biliary atresia, intestinal rotational abnormalities, and immune disorders. In this case, the prenatal diagnosis of the isomerism was mainly based on the abnormalities of caval veins. Although no typical complex cardiac anomaly was present, the HS was associated with biliary atresia, polysplenia, and malrotation of the gut. Associated RAAA further imposed an additional risk of complications such as tachyarrhythmias, thromboembolic events, and aneurysmal rupture.

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Section: Discussionmentioning

confidence: 99%

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Agarwal

Agarwal²

2019

Indian Journal of Radiology and Imaging

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“…Several retrospective studies and case reports summarized the prenatal ultrasound findings of BA infants based on retrospective analysis of the prenatal images, most of which were linked with nonvisualization of the gallbladder or choledochal cyst. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] In our cases, dysmorphic gallbladders are the main features visible on prenatal ultrasound, and we also present integral follow-ups for the three cases, with an aim to raise awareness regarding the association between BA and dysmorphic gallbladders, and offer reference to clinical counseling applications.…”

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confidence: 99%

Dysmorphic Gallbladder Found on Prenatal Ultrasound as a Hint for Biliary Atresia

Feng

Xiu

et al. 2022

J of Ultrasound Medicine

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Biliary atresia (BA) is a rare but devastating cholangiopathy. We report a case series of dysmorphic gallbladders detected during prenatal ultrasound, which were confirmed as BA after birth. We present the prenatal ultrasound findings as well as integral follow‐up, with an aim to raise awareness regarding the association between BA and dysmorphic gallbladder. Although this dysmorphic gallbladder is a strong hint for BA, it is also important to search for other related sonographic features, such as the presence of microcysts at the hepatic hilum, dilated right hepatic artery, and seroperitoneum, which may provide more evidence for the diagnosis of BA.

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Postnatal Outcome After Ultrasound Findings of an Abnormal Fetal Gallbladder: A Systematic Review and Meta‐Analysis

Markova,

Pandya

et al. 2024

Prenatal Diagnosis

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ObjectiveTo describe postnatal outcome following the prenatal diagnosis of an abnormal fetal gallbladder.MethodsWe 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.ResultsIn 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%).ConclusionsThis 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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Prenatal Nonvisualization of the Gallbladder: A Diagnostic and Prognostic Dilemma

Cited by 5 publications

References 19 publications

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Left atrial isomerism associated with aneurysmal enlargement of right atrial appendage: A case report with literature review

Dysmorphic Gallbladder Found on Prenatal Ultrasound as a Hint for Biliary Atresia

Postnatal Outcome After Ultrasound Findings of an Abnormal Fetal Gallbladder: A Systematic Review and Meta‐Analysis

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