Fetal Gallbladder Research Articles

Outcomes of pregnancies diagnosed with absent or abnormal fetal gallbladder in a tertiary center.

The objective of this study was to investigate the ultrasonographic characteristics and outcomes of fetuses with atypical and non-visualized fetal gallbladder in our tertiary care hospital. A retrospective analysis was conducted on cases in which the fetal gallbladder was not visualized or exhibited atypical characteristics at our institution over a four-year period. The patients were divided into two groups: absent gallbladder and atypical gallbladder. The groups with isolated and additional anomalies were analyzed according to their ante- and postnatal characteristics. The study comprised 78 patients (37 absent, 41 atypical gallbladder). In the isolated fetal absence of gallbladder group, the gallbladder was visualized in three of 13 patients during antenatal ultrasonographic follow-up and in half of the remaining 10 patients during postnatal follow-up. In the postnatal period, five newborns with absent isolated gallbladder are being followed up with suspicion of biliary atresia and isolated gallbladder agenesis. In the absence of a gallbladder with an additional anomaly group, 58% of fetuses died during the intrauterine and neonatal period. Fetuses in the isolated atypical gallbladder group are being followed as healthy after birth. Pregnancies with atypical gallbladder appearance and additional anomalies resulted in 33% neonatal death, 12% intrauterine demise, and 25% termination of pregnancy. In instances where the fetal gallbladder is not consistently discernible, it is imperative to exercise caution with regard to the possibility of biliary atresia. In the event that the fetal gallbladder exhibits unusual characteristics, a meticulous examination for the presence of additional anomalies is recommended.

Amniotic fluid gamma-glutamyl transferase for prediction of biliary atresia in cases of non-visualisation of the fetal gallbladder: a retrospective study using a validated analytical platform and local reference range.

The level of amniotic fluid gamma-glutamyl transferase (AFGGT) may help identify biliary atresia (BA) in cases of non-visualisation of the fetal gallbladder (NVFGB). This study aimed to validate a serum/plasma matrix-based gamma-glutamyl transferase (GGT) assay for amniotic fluid (AF) samples, establish a local gestational age-specific AFGGT reference range, and evaluate the efficacy of AFGGT for predicting fetal BA in pregnancies with NVFGB using the constructed reference range. The analytical performance of a serum/plasma matrix-based GGT assay on AF samples was evaluated using a Cobas c502 analyser. Amniotic fluid gamma-glutamyl transferase levels in confirmed euploid singleton pregnancies (16+0 to 22+6 weeks of gestation) were determined using the same analyser to establish a local gestational age-specific reference range (the 2.5th to 97.5th percentiles). This local reference range was used to determine the positive predictive value (PPV) and negative predictive value (NPV) of AFGGT level <2.5th percentile for identifying fetal BA in euploid pregnancies with NVFGB. The serum/plasma matrix-based GGT assay was able to reliably and accurately determine GGT levels in AF samples. Using the constructed local gestational age-specific AFGGT reference range, the NPV and PPV of AFGGT level <2.5th percentile for predicting fetal BA in pregnancies with NVFGB were 100% and 25% (95% confidence interval=0, 53), respectively. In pregnancies with NVFGB, AFGGT level ≥2.5th percentile likely excludes fetal BA. Although AFGGT level <2.5th percentile is not diagnostic of fetal BA, fetuses with AFGGT below this level should be referred for early postnatal investigation.

Fetal "gallstones" are still an unsolved mystery. Case series.

Echogenic content in the fetal gallbladder is rather an incidental finding during third-trimester ultrasonography. The etiology, clinical course, and prognosis of this condition are still unclear. We highlight the demographic, clinical and ultrasound characteristics of our patients with echogenic content in the fetal gallbladder. This is a retrospective single-center study conducted at the University of Medicine and Pharmacy Cluj-Napoca, Romania, between March 2022 and April 2023. All pregnant patients who were admitted to the hospital and had echogenic content in the fetal gallbladder detected by ultrasound were identified. The clinical and ultrasonography parameters were obtained from the databases of the ultrasound units and the medical records of the patients. Four patients were found to have echogenic content in the fetal gallbladder. The mean maternal age at diagnosis was 27.5 years (range 25-31). All patients had singleton pregnancies. The mean gestational age at diagnosis was 36.5 weeks (range 35-40). In all cases, the predominant aspect of echogenic content on ultrasound was multiple hyperechogenic foci; additionally, in one case, sludge was also observed. The mean maximal length of the hyperechogenic foci was 3.375 mm (range 1.6-5.4). All fetuses were delivered at full term, either vaginally or by cesarean section. The mean weight at birth was 3082.5 g (range 2800-3450). In all four cases, the EC disappeared spontaneously at birth. Neither of the four newborns displayed digestive symptoms or complications during the follow-up. The EC is still a medical mystery since little is known about its etiology and long-term outcome. Many cases are likely to be undetected until after birth; therefore, fetal gallbladder examination should be included in the US routine. The condition appears to be benign, and usually, it improves naturally after birth. Consecutively, asymptomatic newborns with EC can be managed through a wait-and-see approach.

Echogenic Content in the Fetal Gallbladder: Systematic Review of Ultrasound Features and Clinical Outcome.

It is rare to detect echogenic content in the fetal gallbladder. The etiology, natural course, and prognosis of this condition remain unclear. In addition to providing a systematic review of this topic, we suggest a plan for patient follow-up. From a total of 100 database entries identified in PubMed, EMBASE, and ICTRP reviews, we selected 34 studies in which we investigated the ultrasound features and outcome of this condition. There were 226 fetuses with gallbladder echogenic content identified. Seventy-two fetuses were found to have biliary sludge; thirty cases had a single hyperechogenic focus, and one hundred fetuses had multiple foci in the gallbladder. There were 16 cases of distal shadowing, 37 fetuses with comet tail and twinkling, and 26 cases with no acoustic artifacts. Nine cases of spontaneous resolution before birth have been documented; nine fetuses exhibited no echogenic content at birth, and 138 cases of resolution of echogenic content within the first year of life have been described. Typically, the condition resolves spontaneously during the postnatal period. After adequately reassuring the parents, the patients should be monitored for spontaneous resolution; medical or surgical intervention is not indicated. Asymptomatic patients can be managed with a wait-and-see strategy.

Pregnancy Outcomes of Non-Visualization of the Fetal Gallbladder from a Chinese Tertiary Single Centre and Literature Review.

Objection: To explore the clinical features and prognosis of non-visualization of the fetal gallbladder (NVFGB). Methods: Sixty-five cases diagnosed with NVFGB in the Peking University First Hospital were collected retrospectively from January 2019 to December 2020. Results: Forty-nine cases were successfully followed up. Among them, the gallbladder of 21 fetuses (42.9%) was present in the later pregnancy. In the rest 28 cases (57.1%), the gallbladders were absent during the whole pregnancy. Eleven of twenty-eight fetuses (39.3%) with NVFGB were complicated with other structural anomalies. In the remaining 17 cases of isolated NVFGB (60.7%) during the whole pregnancy, there was one case of congenital biliary atresia, three cases of a small gallbladder, one case of gallstone and one case of the gallbladder with several septa inside. A total of nine cases (18.4%) underwent prenatal diagnosis, four of which revealed abnormal copy number variant (CNV) results. Conclusion: Nearly half of NVFGB could be noted during the later pregnancy. The persistent NVFGB during the pregnancy has a higher risk to complicate gallbladder abnormality, other structural anomalies and abnormal CNV results. Other structures, especially the heart, gastrointestinal and urinary system, should be carefully examined when NVFGB is suspected.

Anomalies of the fetal gallbladder: pre-and postnatal correlations.

The gallbladder is not part of the standard survey of a fetus during obstetrical ultrasound. Yet, some anomalies can be detected. Most are clinically benign, but some are features of or associated with more serious complications. Biliary atresia constitutes the diagnosis with the worst prognosis. Its in utero diagnosis is difficult. Still, markers do exist and should be searched for. Knowledge of the normal appearances, variants and abnormalities of the gallbladder contributes to proper management. Any suspicion should lead to meticulous postnatal workup. Pre- or postnatal magnetic resonance imaging can provide additional information in select cases.

Non-visualisation of fetal gallbladder in a Chinese cohort.

Non-visualisation of fetal gallbladder (NVFGB) is associated with chromosomal abnormalities, biliary atresia, cystic fibrosis, and gallbladder agenesis in Caucasian fetuses. We investigated the outcomes of fetuses with NVFGB in a Chinese cohort. This retrospective analysis included cases of NVFGB among Chinese pregnant women at five public fetal medicine clinics in Hong Kong from 2012 to 2019. We compared the incidences of subsequent gallbladder visualisation, chromosomal abnormalities, biliary atresia, cystic fibrosis, and gallbladder agenesis between cases of isolated NVFGB and cases of non-isolated NVFGB. Among 19 cases of NVFGB detected at a median gestational age of 21.3 weeks (interquartile range, 20.0-22.3 weeks), 10 (52.6%) were isolated and nine (47.4%) were non-isolated. Eleven (58.0%) cases had transient non-visualisation, four (21.0%) had gallbladder agenesis, three (15.8%) had chromosomal abnormalities (trisomy 18, trisomy 21, and 22q11.2 microduplication), one (5.2%) had biliary atresia, and none had cystic fibrosis. The incidence of serious conditions was significantly higher in the non-isolated group than in the isolated group (44.4% vs 0%; P=0.029); all three cases with chromosomal abnormalities and the only case of biliary atresia were in the non-isolated group, while all four cases with gallbladder agenesis were in the isolated group. The incidences of transient non-visualisation were similar (55.6% vs 60.0%; P=1.000). Isolated NVFGB is often transient or related to gallbladder agenesis. While investigations for chromosomal abnormalities and biliary atresia are reasonable in cases of NVFGB, testing for cystic fibrosis may be unnecessary in Chinese fetuses unless the NVFGB is associated with consistent ultrasound features, significant family history, or consanguinity.

Prediction of Fetal Biliary Atresia Based on Second and Third-Trimester Ultrasound Characteristics.

To explore the diagnostic performance of prenatal ultrasound in the prediction of biliary atresia (BA). We prospectively collected cases of suspected biliary abnormalities in the 2nd trimester of pregnancy and performed a series (at least 3) of prenatal ultrasound examinations in the 2nd and 3rd trimester. The presence of the gallbladder was examined each time, and its size and shape were assessed if the gallbladder was visible. The existence of other abnormalities was carefully evaluated. Neonatal ultrasound examination was conducted within 1 month after birth, and clinical data were followed-up for 6 months after birth. Among the 41 895 patients, 298 were suspected to have biliary abnormalities, while 82 patients were excluded due to loss to follow-up or induced labor caused by other abnormalities. A total of 216 patients were included in this study, and 15 were diagnosed with BA. We summarized the ultrasound findings of the gallbladders and defined a high-risk gallbladder for the prenatal diagnosis of BA. This was demonstrated to have the best diagnostic performance as a single parameter, with an area under the curve of 0.914 (95 %CI: 0.869-0.948). In addition, higher incidences of biliary cysts, right hepatic artery dilation, echogenic bowel, and ascites were observed in BA fetuses. Logistic regression analysis showed that the combination of 5 parameters had better diagnostic performance, with an area under the curve of 0.995 (95 %CI: 0.973-0.999). The fetal gallbladder was found to be a critical feature for the identification of BA. Concomitant abnormalities could be helpful to improve the accuracy of the diagnosis.

Fetal gall bladder development

Background: The gall bladder development in fetal life is complex and starts as early as the 4th week of gestation; the abnormal development of the gall bladder is associated with various congenital abnormalities. The objective of the present study was to study fetal gall bladder development in relation to gestational age (GA) among fetuses. Methodology: In a cross-sectional observational study of 29 fetuses, the gall bladder parameters and histological changes are evaluated at different gestational age. The fetus was categorized based on GA into three categories of &lt;20 weeks, 21–30 weeks, and 31 weeks and above. After dissection of the abdomen, the shape and location of the gall bladder were observed. The relationship of gall bladder with liver was observed. The gall bladder length (GBL) and gall bladder width (GBW) were measured. The histogenesis of the gall bladder was observed among all fetuses and developmental changes were noted. Results: The study included 29 fetuses, 14 males and 15 females. The first, second, and third groups comprised 5, 14, and 10 fetuses. The GA ranged from 13 to 35 weeks. The mean crown-rump length (CRL) of the fetuses was 19.34 ± 6.32 cm. The mean GBL was 2.06 ± 0.83 cm and the mean GBW was 0.77 ± 0.32 cm. The GBL and GBW increased with CRL, GA, and weight. The strong positive correlation was observed between GBL, GBW with GA and CRL. On microscopy, among the first group, fetal gall bladder at 13 weeks showed solid structure with obliterated lumen and area of early canalization. The muscular layer initially was very thin and comprised only few haphazardly arranged muscle fiber in the first group, the thickness was found to be more in the second group and a well-formed adult-like muscular layer was found in the third group. The loose connective tiisue, the outer most layer was pronounced in the third group. Conclusion: The fetal gall bladder parameters show linear increase with GA and CRL. The location, size, and relation of the fundus with margin of gall bladder in fetus undergo changes with the development of the fetus. The fetal gall bladder undergoes marked histological changes during development.

Echogenicities in the fetal gallbladder: Prevalence, sonographic findings, and postnatal outcomes.

To investigate the prevalence of echogenicity in the fetal gallbladder (EFG) and to present prenatal sonographic findings and their postnatal outcomes. We performed a retrospective study within 17420 pregnant women during a 66-month period. Fetuses with an incidental finding of EFG in their 2nd or 3rd trimester of pregnancy were followed until birth per two weeks with sonographic examinations. Out of 5977 fetuses, 44 fetuses were found to have EFG with a prevalence of 0.74%. Nine (20%) of 44 fetuses had single echogenicity, 25 (56%) had multiple echogenicities, 10 (22%) had sludge-like echogenicities. In Doppler sonography, 28 fetuses with EFG exhibited twinkling artifacts; however, none of the echogenicities had obvious acoustic shadowing. All of the cases were resolved either in utero or after birth before 10 months of age. EFG is a late third-trimester phenomenon with a prevalence of 0.74%. Most EFGs presented as twinkling artifacts, suggesting they had a cholesterol component.

Postnatal outcomes of fetuses with isolated gallbladder anomalies: be aware of biliary atresia

Objectives To analyze the normal development of fetal gallbladder (GB) and evaluate the postnatal outcomes of fetuses with isolated GB anomalies without other structural abnormalities by ultrasound. Methods This was a retrospective study. We collected normal cases during 2016 between 15 and 40 gestational weeks and measured the length and width of GB to establish a normal reference range of GB. Using the 10th and 90th percentiles of the normal reference range, isolated cases of enlarged or small GB without other structural anomalies were selected between January 2017 and December 2019. Simultaneously, cases of echogenic material in the GB were included. Fetuses with non-visualization of the fetal gallbladder (NVFGB) were collected between January 2010 and December 2019. Postnatal outcomes of these cases were followed up and analyzed. Results There were 670 cases in the normal group and a linear correlation was found between the dimensions of GB and the gestational age, including the length (r = 0.69; p < .05; y = 0.97 + 0.70 × gestational age) and width (r = 0.48; p < .05; y = 1.65 + 0.12 × gestational age). Sixty-two cases with isolated GB anomalies were collected, including nine cases of enlarged GB, four cases of small GB, three cases of echogenic material in the GB, and 46 cases of NVFGB. Sixty fetuses (96.8%, 60/62) had good outcomes, except that two neonates (4%, 2/50) in small GB and NVFGB groups were both born with BA. In the NVFGB group, 97.8% (45/46) were with good outcomes, in which gallbladders were finally visualized in 37 (80.4%, 37/46) cases and GB agenesis was postnatally diagnosed in eight (17.4%, 8/46) patients by ultrasound. Conclusion The postnatal outcomes of most fetuses (96.8%) with isolated GB anomalies such as enlarged GB, echogenic material in the GB were favorable. When it comes to cases of small GB or NVFGB in prenatal ultrasound diagnosis, we should alert biliary atresia in prenatal counseling.

VP09.03: Postnatal outcome after ultrasound findings of an abnormal fetal gall bladder: a systematic review and meta‐analysis

VP09.03: Postnatal outcome after ultrasound findings of an abnormal fetal gall bladder: a systematic review and meta‐analysis

Persistent right umbilical vein: its incidence and clinical importance

Objective To investigate the incidence and concomitant findings of persistent right umbilical vein (PRUV). Methods The study was conducted by retrospective review of the data of 1856 patients who admitted to the Clinic of Obstetrics and Gynecology of Fırat University between December 2018 and December 2019 for the gestational examination between 14 and 28 weeks of gestation. The obstetric characteristics of the patients such as age, number of pregnancy, abortion, parity and body mass index were recorded. The diagnosis of PRUV was established in the conditions where portal vein reaches to stomach abnormally (roughly, course towards stomach instead of parallel course), fetal gall bladder locates in the medial of umbilical vein or umbilical vein connects to right portal vein abnormally instead of left portal vein. In the cases diagnosed with PRUV, the isolated persistent right umbilical vein or its association with other anomalies was recorded. Ultrasonography findings (minor markers) were also recorded in these cases. Results During the study period, 1856 pregnant women were evaluated for gestational examination. Five cases were established with the diagnosis of PRUV. Accordingly, PRUV prevalence was 0.27%. The PRUV incidence in the study population was 1/370 in the study population. No chromosomal anomaly was found in PRUV cases, but one case had echogenic intracardiac focus, one case had echogenic intestine, and one case had short nasal bone. When organ systems were evaluated, renal cyst was found in one case. No additional finding was found in one case. Conclusion PRUV is the most common form among fetal venous system anomalies. If detected, fetal examination is required in terms of the anomalies that may accompany. Chromosome analysis is not necessary if it is isolated, and it should be evaluated as a variant of normal anatomy.

Prenatal diagnosis of fetal gallbladder duplication associated with uncommon chromosomal anomaly (46, XX, t(X;10) (p11.2;q24.3) [20

Fetal gallbladder duplication is a rare congenital malformation. In the literature only a few cases of fetal gallbladder duplication in utero is reported. A 22-year-old woman was referred to this hospital at 26 weeks of gestation for a routine ultrasound examination. A fetal duplication of gallbladder accompanied was diagnosed with ultrasonography (axial section of fetal abdomen on sonography showed two hypoechoic cyst-like structures). The diagnosis of duplication of gallbladder, was also confirmed with MRI. The result of cordocentesis was reported as 46, XY, t(X;10) (p11.2;q24.3) [20]. Antenatal/natal/postnatal care was unremarkable. A novel chromosomal mutation (46, XX, t(X;10) (p11.2;q24.3) [20]) with duplicated fetal gallbladder which has not been reported previously was described.

Outcome of non-visualization of fetal gallbladder on second-trimester ultrasound: cohort study and systematic review of literature.

To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder (NVFGB) followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB. NVFGB was defined as non-visualization of the gallbladder on two targeted ultrasound examinations performed within a 1-week period. First, we reviewed the medical records of NVFGB cases managed in our center over a 9-year period. Then, we performed a systematic review of the literature to identify studies on NVFGB. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non-isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed. Sixteen cases of NVFGB were followed in our center, in 10 (62.5%) of which it was an isolated finding. The incidence of biliary atresia was 12.5% and that of gallbladder agenesis was 12.5%, while no case of cystic fibrosis was reported. The gallbladder was visualized later in pregnancy or postnatally in 43.8% and 25.0% of cases, respectively. A total of seven studies, including our cohort, involving a total of 280 NVFGB cases, met the inclusion criteria for the systematic review. Overall, 20.5% of fetuses had an associated ultrasound anomaly, and the incidence of chromosomal anomaly in this group was 20.4%. In cases with isolated NVFGB, the incidence of chromosomal anomaly was 1.9%. In fetuses with normal karyotype and isolated NVFGB, the gallbladder was later visualized in 70.4% of cases, while the incidence of gallbladder agenesis, cystic fibrosis and biliary atresia was 25.2%, 3.1% and 4.8%, respectively. In fetuses with non-isolated NVFGB, the incidence of cystic fibrosis and biliary atresia was 23.1% and 18.2%, respectively. The negative predictive value of amniotic fluid enzyme levels for the prediction of severe disease (including biliary atresia or cystic fibrosis) ranged between 94% and 100% when evaluated before 22 weeks' gestation, and dropped to 88% after 22 weeks. In cases with persistent NVFGB, the risk of a severe postnatal condition should be considered. A detailed ultrasound scan should be offered and parents tested for cystic fibrosis gene mutation. An invasive procedure for karyotyping and measurement of liver enzyme concentrations before 22 weeks constitutes a reasonable work-up. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Echogenic material in the fetal gallbladder: prevalence, sonographic spectrum, and perinatal outcome in an unselected third-trimester population

Objective: To determine the prevalence, sonographic spectrum, and clinical significance of echogenic material in the fetal gallbladder in our population.Methods: Sonographic visualization of the fetal gallbladder was attempted in 3894 consecutive third-trimester pregnancies (4026 fetuses). Gallbladder content was classified as clear (anechoic), containing echogenic material that was either diffuse (sludge), or presenting as a single focus or multiple foci (gallstone(s)). Information on the clinical course was obtained by reviewing the medical records or contacting the provider or the parents themselves.Results: During the three and a half-year study period from July 2014 to December 2017, 19 fetuses were identified as having echogenic material in the gallbladder (prevalence 1/211, 0.47%). Among them, echogenic biliary sludge was found in eight fetuses (42%); all eight were asymptomatic and a normal gallbladder was documented postnatally in four of them. Single (n = 3) or multiple (n = 8) echogenic foci were found in 58% of cases, which was associated with a good prognosis and subsequent resolution between 1 and 10 months of life in all cases.Conclusions: The prevalence of echogenic material in the fetal gallbladder in our population was similar to that previously reported in the literature. The prognosis appears to be favorable, with resolution and without subsequent postnatal hepatic or gastrointestinal complications in all cases.

OC27.06: Non‐visualisation of the fetal gallbladder (NVFGB) at prenatal ultrasound: cohort study and systematic review of the literature on postnatal outcome

i) to investigate the ultrasound characteristics and outcome in fetuses with NVFGB followed in our tertiary university hospital, ii) to provide a comprehensive review of literature on NVFGB. NVFGB was defined as non-visualisation of the gallbladder at two targeted US examination within a 1-week period. Cases of NVFGB managed in our centre were revised and a systematic review of literature was performed. The incidence of chromosomal anomalies, later visualisation of gallbladder, gallbladder agenesis, cystic fibrosis (CF) and Biliary Atresia (BA) in fetuses were assessed isolated and non-isolated NVFGB. 16 cases of NVFGB were followed in our centre, 10 being isolated (62.5%). There was an incidence of 12.5% of BA and 12.5% of gallbladder agenesis while no case of CF was reported. Gallbladder was visualised later in pregnancy or postnatally in 43.8% and 31.3% of cases, respectively. A total of 5 additional studies for a total of 227 cases met inclusion criteria for the systematic review. Overall, 22.0% of fetuses had associated US anomalies, the incidence of chromosomal anomalies in this group was 18.0%, while that of severe conditions (CF or BA) was 39.0% in cases with normal karyotype. Table 1 summarised the results of our review. In case of persistent NVFGB the risk of a severe postnatal condition should be considered. This study provides important information for prenatal counselling. N of studies (n) Fetuses (n/N) I2 (%) Raw % (95% CI) Pooled % (95% CI) 1.3 (0.2-4.7) 1.9 (0.2-5.2) 69.4 (61.9-76.2) 70.4 (61.0-79.0) 24.7 (18.4-31.7) 25.2 (19.0-32.0) 2.4 (0.6-5.9) 3.1 (1.0-6.2) 3.5 (1.3-7.5) 4.8 (2.1-8.4)

Non-visualization of fetal gallbladder in microarray era – a retrospective cohort study and review of the literature

Objective: The objective of this study is to examine the frequency of abnormal Chromosomal Microarray (CMA) analyses among fetuses with isolated non-visualization of fetal gallbladder.Methods: Data from CMA analyses performed due to isolated non-visualization of fetal gallbladder between January 2013 and September 2016 were retrospectively acquired from a computerized database of the Israeli Ministry of Health. The results were compared with the rate for clinically significant CMA findings in general population, based on a large cohort of 5541 pregnancies undergoing CMA due to maternal request, and a systematic review of 9272 cases with normal ultrasound.Results: Of 45 pregnancies with isolated non-visualization of fetal gallbladder, CMA testing yielded one (2.22%) gain-of-copy-number variant at 16p11.2, categorized as “pathogenic”. In addition, one finding of unknown significance was demonstrated. The risk for clinically meaningful CMA findings among pregnancies with isolated absent gallbladder was not significantly increased compared to control population.Conclusions: To the best of our knowledge, this study is the first report describing the rate of pathogenic CMA results in fetuses with isolated non-visualization of fetal gallbladder. The results, in conjunction with previous studies, show that the risk for abnormal CMA results in pregnancies diagnosed with non-visualized gallbladder is not significantly different from pregnancies with normal ultrasound.

Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia.

The gallbladder excretes cytotoxic bile acids into the duodenum through the cystic duct and common bile duct system. Sox17 haploinsufficiency causes biliary atresia-like phenotypes and hepatitis in late organogenesis mouse embryos, but the molecular and cellular mechanisms underlying this remain unclear. In this study, transcriptomic analyses revealed the early onset of cholecystitis in Sox17+/- embryos, together with the appearance of ectopic cystic duct-like epithelia in their gallbladders. The embryonic hepatitis showed positive correlations with the severity of cholecystitis in individual Sox17+/- embryos. Embryonic hepatitis could be induced by conditional deletion of Sox17 in the primordial gallbladder epithelia but not in fetal liver hepatoblasts. The Sox17+/- gallbladder also showed a drastic reduction in sonic hedgehog expression, leading to aberrant smooth muscle formation and defective contraction of the fetal gallbladder. The defective gallbladder contraction positively correlated with the severity of embryonic hepatitis in Sox17+/- embryos, suggesting a potential contribution of embryonic cholecystitis and fetal gallbladder contraction in the early pathogenesis of congenital biliary atresia.

Fetal stomach and gallbladder in contact with the bladder wall is a common ultrasound sign of stomach-down left congenital diaphragmatic hernia.

The aim of this study was to identify sonographic (US) findings that can assist in prenatal diagnosis of stomach-down left congenital diaphragmatic hernia (CDH), specifically related to positioning of the abdominal contents including the stomach, bladder, and gallbladder. All US examinations with a postnatally confirmed diagnosis of stomach-down left CDH over a 13-year period were retrospectively reviewed for abnormal position of the abdominal contents, including whether the fetal stomach was in contact with the urinary bladder. Normal fetuses that underwent comprehensive US surveys were similarly evaluated for comparison in a 2:1 ratio. Twenty-two fetuses with stomach-down left CDH were identified in a cohort of 278 fetuses with left CDH. In 15/22 (68.2%) cases of stomach-down left CDH, the bladder and stomach walls were in contact. Contact of the fetal gallbladder with the fetal bladder wall was also observed and was present even more commonly (17/22 cases [77.3%]). There was no case of either the stomach or gallbladder in contact with the bladder wall in the normal fetal cohort (n = 44). Recognition of the fetal stomach and/or gallbladder in contact with the bladder wall can help in the detection of stomach-down left CDH. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:8-13, 2017.