Nonvisualization Of Gallbladder Research Articles

Prenatal diagnosis with chromosome microarray and pregnancy outcomes of fetuses with biliary tract system abnormalities

To investigate the prenatal diagnostic value of chromosome microarray analysis (CMA) in fetuses presenting with ultrasound-based biliary tract system (BTS) anomalies. Amniocentesis was performed and CMA was applied in 271 pregnant women carrying fetuses with BTS abnormalities between April 2015 and December 2020. Pregnancy outcomes and fetal prognosis were followed from 1 to 6years. Sixteen cases (5.9%, 16/271) of chromosomal anomalies were detected. The detection rate of chromosomal abnormalities was significantly higher for fetuses with nonisolated BTS anomalies than for those with isolated BTS anomalies (9.0% vs. 0%, p=0.0017). Follow-up results were obtained from 267 fetuses, including 25 cases of termination of pregnancy (9.4%), 237 live births (88.8%), and 5 (1.9%) neonatal demises. The incidence of congenital biliary atresia in the small gallbladder and nonvisualized gallbladder groups was 3.0% (1/33) and 9.5% (7/74), respectively; however, none was detected on postnatal ultrasound reexamination in the gallbladder enlargement or the other BTS groups. An isolated BTS abnormality is not an indication for invasive prenatal chromosomal analysis. When combined with other ultrasonographic abnormalities, prenatal CMA should be provided. When a small or nonvisualized gallbladder is found prenatally, ultrasonography is limited in the differential diagnosis of congenital biliary atresia.

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.

Gallbladder agenesis and enterogastric reflux in an adult patient diagnosed by Tc99m HIDA SPECT-CT scintigraphy: a case report

Background: Gallbladder agenesis is an extremely rare, usually asymptomatic anatomic variation. Enterogastric reflux (EGR) in a patient with gallbladder agenesis was not reported previously. We report a rare case of EGR in a patient with gallbladder agenesis, diagnosed on 99mTc HIDA (hepatobilliary iminodiacetic acid) SPECT-CT (single-photon emission computed tomography-computed tomography) scintigraphy. Case Presentation: A 35-year-old female was referred to Nuclear Medicine Department for Tc99m HIDA scan. She had history of surgical exploration to remove the gallbladder due to suspicion of chronic cholecystitis. But intraoperatively gallbladder was not localized and the patient was referred for Tc99m HIDA scan. Tc99m HIDA scan along with SPECT-CT showed reflux of tracer into the stomach and non-visualized gallbladder. Further imaging by magnetic resonance cholangiopancreatography confirmed the diagnosis of congenital absence of the gallbladder. Conclusion: We conclude that 99mTc HIDA SPECT-CT scintigraphy is helpful in evaluating the true etiology of biliary colic. It should be cautiously reported, mentioning the EGR if present as it may be the true etiology of biliary colic in patients with and without gall bladder. It prevents the added morbidity of surgery, performed with the suspicion of cholecystitis.

Evaluation of Visual Examination of Stool as A Screening Test for Infant with Prolonged Neonatal Cholestasis Namely Biliary Atresia

Introduction: Neonatal cholestasis is a hepatobiliay disease characterized by biliary obstruction in the neonatal period. Biochemically it is evidenced by prolonged elevation of serum conjugated bilirubin beyond the first 14 days of life.1 Most common causes are biliary atresia and idiopathic neonatal hepatitis.3, 4
 Objective: To evaluate stool color as a screening test by visual inspection in infants with prolonged neonatal cholestasis.
 Methodology: This was a cross-sectional analytic study, conducted in Pediatric Gastroenterology and Nutrition Department,BSMMU, Dhaka, from 3 September 2012 to 3 February 2013 about 6 month duration. Statistically calculated 38 infants with prolonged neonatal direct hyperbilirubinaemia beyond their 14 days of age were included in this study.
 Results: The mean age of the subjects was 62.3 days with a standard deviation (SD) ±13.7 days. Male to female ratio was 1.2:1. All (100%) the subjects were icteric and hepatomegaly was found in 94.7% subjects. Dark urine (84.2%), pale stool (78.5%), bleeding manifestations (31.8%) and infection (29%) were also observed. Thirty (78.5%) subjects had pale colored stool. Mean (± SD) albumin and conjugated bilirubin levels were 3.68 (±1.88)gm/dl and 5.29 (±1.31)mg/dl respectively. ALT and GGT level of the study subjects were 346.19±124.28 u/dl and 315±198.91 u/l respectively. Common ultrasonographic findings of the patients were non visualization of gallbladder 60.5%, non-visualization of common bileduct 50%, hepatomegaly 92.1%, and triangular cord sign in portahepatis 7.9%. Scintigraphy revealed impaired excretion into intestine 88.9% in majority of the subjects. Liver biopsy revealed liver architecture was preseved 65.8% bile duct proliferation 52.6%, regenarating nodule was absent 65.8% gaint cell was present 52.6% portal tract inflammation was found in 47.4%. Sensitivity of stool color in the diagnosis of neonatal cholestasis was found 90.6%, specificity 83.3%, accuracy 89.5%, positive predictive value 96.7% and negative predictive value 62.5%.
 Conclusion: It can be concluded that stool color might be reliable indicator for screening of prolonged neonatal cholestasis namely biliary atresia.
 J Bangladesh Coll Phys Surg 2021; 39(1): 46-52

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.

WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

WS10.1 Isolated non-visualisation of foetal gallbladder should be considered for the prenatal diagnosis of cystic fibrosis

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.

Gallbladder Nonvisualization in Cholecystectomy: A Factor for Conversion.

Background and Objectives:Many risk factors have been identified in minimally invasive cholecystectomies that lead to higher complications and conversion rates. No study that we encountered looked at nonvisualization of the gallbladder (GB) during surgery as a risk factor. We hypothesized that nonvisualization was associated with an increased risk of complications and could be an early intraoperative identifier of a higher risk procedure. Recognizing this could allow surgeons to be aware of potential risks and to be more likely to convert to open for the safety of the patient.Methods:We looked at minimally invasive cholecystectomies performed at our institution from January 2015 through April 2016 and had the performing resident fill out a survey after the surgery. Outcomes were conversion rates, intraoperative complications, and blood loss and were analyzed via Pearson χ2 test or Mann-Whitney U test.Results:The primary outcome showed a conversion rate of 37% in nonvisualized GBs versus 0% in visualized (P = .001). Secondary outcomes showed significant differences in GB perforations (74% vs 13%, P = .001), omental vessel bleeding (16% vs. 0%, P = .005), and EBL (46 mL vs 29 mL, P = .001).Conclusions:Intraoperative nonvisualization of the GB after adequate positioning caused significantly increased risk of intraoperative complications and conversion. This knowledge could be useful during intraoperative assessment, to decide whether a case should be continued as a minimally invasive procedure or converted early to help reduce risk to the patient. Further randomized controlled studies should be performed to further demonstrate the value of this assessment.

Role of Hepatobiliary Scintigraphy and Ultrasonography in the Diagnosis of Biliary Atresia in Infant with Neonatal Jaundice – Experiences in NINMAS

Objective: The purpose of this study was to determine whether gall bladder visualization can help to exclude the biliary atresia in hepatobiliary scintigraphic studies of infants with persistent jaundice.Methods: This is a retrospective study carried out at the National Institute of Nuclear Medicine and Allied Sciences (NINMAS). Study subjects include infants with neo-natal jaundice who underwent Hepatobiliary scintigraphies for suspected biliary atresia and study period was 2 years. Food was withheld for 4 hours before the examination. Anterior images of liver and gall bladder were taken after i/v administration of 2 -3 mci 99m Tc labeled Brida (HIDA) at 5 min interval for 2 hours then at 4 hours and 24 hours. Non-visualization of bowel activity in HIDA scan in 24hours delayed images was considered as cases of diagnosis of biliary atresia.Results: Thirty-six patients were included in this retrospective study. Patent biliary channels was seen by scintigraphies in 17(47%) patients and biliary atresia was seen in 19(52%) patients. By abdominal US non- visualization of gall bladder were found in 25(69%) cases and gall bladder visualized in 11(30%) cases. Eight (22%) of 36 patients had biopsy confirmed biliary atresia; all of these had positive scintigraphies and (60%) had positive sonographic findings. Among the 5 false-positive scintigraphies caused by hepatic dysfunction and 2 had normal sonography. Thirty-six patients had periscintigraphic sonography. There were 25/36 (61%) abnormal studies, which included cases with small gallbladder (n = 8) and non-visualized gallbladder (n = 17), but not periportal fibrosis.Conclusion: Gall bladder was usually visible on Hepatobiliary scintigraphy of fasting patients with biliary patency. Both hepatobiliary scintigraphy and sonography are currently the standard imaging investigations for suspected biliary atresia. The complementary role, in which scintigraphy and sonography are important, and recommend follow-up imaging reassessment before making definitive surgical decisions. This will serve to decrease the frequency of false-positive imaging diagnoses of biliary atresia, and hence, avoid unnecessary surgeries.Bangladesh J. Nuclear Med. 18(1): 51-53, January 2015

Sonographic Non-Visualization of the Gallbladder: A Pitfall in Diagnosis of Emphysematous Cholecystitis

Emphysematous cholecystitis is an uncommon complication of calculous cholecystitis due to secondary infection of gallbladder wall with gas-forming enteric organisms. It carries high morbidity and mortality to the patients and a rapid and early diagnosis is essential in patient’s clinical outcomes. Ultrasonography is usually the first and foremost test performed in cases of suspected biliary diseases. Herein, we describe a diagnostic pitfall of ultrasound in a patient with emphysematous cholecystitis – non-visualization of gallbladder, caused by reverberations from air in the gallbladder wall.

Negative Impact of Indwelling Biliary Stent on Gallbladder Visualization on Cholescintigraphy.

Presence of biliary stent may alter biliary dynamics, which may change the results of cholescintigraphy. We assessed the frequency of gallbladder (GB) nonvisualization and its specificity for acute cholecystitis (AC) in patients with stent. Of 44 with stent who had cholescintigraphy, 22 were excluded because of prior cholecystectomy or little to no radiotracer excretion from the liver precluding assessment of GB filling. Cholescintigraphy performed on the remaining 22 with stent and their medical records were reviewed. We also assessed the frequency of GB nonvisualization in the comparison group of 1044 without stent who had cholescintigraphy for evaluation of AC. Gallbladder was not visualized in 21 (96%) of 22 with stent, 10 of whom did not have high clinical suspicion of AC. Gallbladder was visualized in only 1 patient on delayed imaging at 4 hours. Four had cholecystectomy, 3 had chronic cholecystitis and 1 AC superimposed on chronic cholecystitis. The highest possible specificity derived from our data assuming an extreme hypothetical scenario was only 25% with the true specificity likely being 7% or lower. In contrast to patients with stents, only 188 (18%) of the 1044 without stent had GB nonvisualization (P < 0.0001). In patients with stents, cholescintigraphy using morphine augmentation or 4-hour delayed imaging is futile to evaluate for AC because the frequency of GB nonvisualization is high and the specificity of GB visualization is low. It is unknown whether further delayed imaging at 24 hours would improve the study efficacy in this population.

Revisiting morphine-augmented hepatobiliary imaging for diagnosing acute cholecystitis: the potential pitfall of high false positive rate

PurposeThe aim of this retrospective study was to investigate the efficacy of morphine-augmented hepatobiliary imaging (MAHBI) for diagnosing acute cholecystitis (AC).MethodsSixty-eight patients (Male:Female = 36:32, age = 54 ± 17 years) referred for diagnosis of AC by 30-min post-morphine MAHBI after the standard 1-h imaging were recruited. Non-visualization of gallbladder on 30-min post-morphine images by visual analysis was considered positive. Final diagnosis of pathological examination for all patients was used as the gold standard.ResultsThere was significant correlation of AC and MAHBI (p < 0.05). There were 45 true positive (TP), 19 false positive (FP), 4 true negative (TN), and no false negative (FN) cases using gallbladder visualization by 30-min post-morphine as the criteria, with a high false positive rate of 83%. The sensitivity, specificity, accuracy, positive and negative predictive values of MAHBI in detecting AC were 100%, 17%, 72%, 70%, and 100%, respectively.ConclusionsMAHBI is sensitive but may not specific for diagnosing AC due to the potential pitfall of high false positive rate. Correlation with other clinical findings is recommended for optimal patient management.

Comment on “Relationship of nonvisualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome”

Objective The aims of this study were evaluate the significance of non-visualization of fetal gallbladder at routine ultrasound scan in a series of 102 cases and to determine the contribution of amniotic fluid digestive enzyme (AF-DE) analysis towards the outcome. Method This is a multicenter retrospective study. Outcome of pregnancies, karyotype, and result of screening for CFTR gene mutations were known in all cases. Amniotic fluid gamma-glutamyl-transpeptidase and intestinal alkaline phosphatase isoenzyme were assayed. Results Non-visualization of the fetal gallbladder was associated with a severe disease in 25 cases (cystic fibrosis in ten, biliary duct atresia in eight, digestive tract anomalies in six, and chromosomal anomaly in one). In the remaining 77 cases, gallbladder agenesis was diagnosed in 22, and in 55, the gallbladder was subsequently demonstrated. Before 22 weeks of gestation (n = 30), an abnormal AF-DE pattern had a 90% sensitivity and 80% specificity in detecting cystic fibrosis or biliary duct atresia. After 22 weeks, sensitivity fell to 53%. The AF-DE pattern was normal in 82% of gallbladder agenesis cases (benign) and in 91% of the cases where the gallbladder was subsequently detected. Conclusion Non-visualization of the fetal gallbladder was associated with severe anomalies in 24% of cases. Prior to 22 weeks, determination of AF-DE contributes to the prediction of biliary atresia or the presence of cystic fibrosis. © 2012 John Wiley & Sons, Ltd.

Relationship of non‐visualization of the fetal gallbladder and amniotic fluid digestive enzymes analysis to outcome

The aims of this study were evaluate the significance of non-visualization of fetal gallbladder at routine ultrasound scan in a series of 102 cases and to determine the contribution of amniotic fluid digestive enzyme (AF-DE) analysis towards the outcome. This is a multicenter retrospective study. Outcome of pregnancies, karyotype, and result of screening for CFTR gene mutations were known in all cases. Amniotic fluid gamma-glutamyl-transpeptidase and intestinal alkaline phosphatase isoenzyme were assayed. Non-visualization of the fetal gallbladder was associated with a severe disease in 25 cases (cystic fibrosis in ten, biliary duct atresia in eight, digestive tract anomalies in six, and chromosomal anomaly in one). In the remaining 77 cases, gallbladder agenesis was diagnosed in 22, and in 55, the gallbladder was subsequently demonstrated. Before 22 weeks of gestation (n=30), an abnormal AF-DE pattern had a 90% sensitivity and 80% specificity in detecting cystic fibrosis or biliary duct atresia. After 22 weeks, sensitivity fell to 53%. The AF-DE pattern was normal in 82% of gallbladder agenesis cases (benign) and in 91% of the cases where the gallbladder was subsequently detected. Non-visualization of the fetal gallbladder was associated with severe anomalies in 24% of cases. Prior to 22 weeks, determination of AF-DE contributes to the prediction of biliary atresia or the presence of cystic fibrosis.

Role of cholescintigraphy in management of acute acalculous cholecystitis

Aim:This study is aimed to evaluate the role of cholescintigraphy in management of acute acalculous cholecystitis.Materials and Methods:A total of thirty two patients who had presented to the surgical out-patient department or referred from in-patient department or intensive care unit between February 2008 and February 2010 were studied. All patients with Ultrasonography abdomen findings of acalculous cholecystitis were included in the study and they underwent cholescintigraphy. Gall bladder ejection fraction (GBEF) was calculated 30 min after fatty meal. Patients who either had non-visualization of gall bladder or GBEF less than 40% were considered to have acalculous cholecystitis on cholescintigraphy. The patients were followed-up for a period of 3 months after the commencement of treatment.Results:Eleven patients had either non-visualization of gall bladder or GBEF < 40%. Of these, six patients underwent cholecystectomy and the rest were medically managed, as patients deferred surgery. 83.33% of post-cholecystectomy patients as against 40% of medically treated patients were symptom free. Twenty one patients had GBEF > 40%, 90.74% of these patients were symptom free at the end of 3 months, with medical management.Conclusion:Cholescintigraphy is an important adjunct in management of patients with acalculous cholecystitis by guiding the course of therapy-surgical management versus medical management.

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis

The aim of our study is to evaluate the prevalence of cystic fibrosis (CF) in fetuses referred for genetic testing because of ultrasonographic sign (nonvisualized fetal gallbladder--NVFGB). We reviewed the results of CFTR gene analysis over the period 2002 to 2009 in all consecutive cases referred because of NVFGB in Western France. We correlated these data with the presence of a more classical ultrasonographic finding (fetal echogenic bowel - FEB). Cystic fibrosis was diagnosed in 5 of the 37 fetuses with NVFGB (13.5%, 95% confidence interval (CI): [2.5%; 24.5%]) and in only 9 of the 229 other cases referred because of FEB (3.9%, 95% CI: [3.2%; 14.7%]). In our series, all CF-affected fetuses with NVFGB also had FEB. The risk of CF was 11.6-fold higher in fetuses with both indications (NVFGB + FEB) than in fetuses with isolated FEB (45.5% vs 3.9%, RR = 11.6, 95% CI: [4.7%; 28.8%], p = 0.0001). We also estimated that the residual risk of CF was less than 1 in 68 (1.5%) when a single mutation was identified in the fetus by our molecular protocol. Ultrasonographic evidence of NVFGB is an additional risk factor for CF in cases with FEB.

Absent gallbladder on fetal ultrasound: prenatal findings and postnatal outcome

Fetal gallbladder non-visualization on prenatal ultrasound in the second trimester is uncommon and in most cases the gallbladder is detected eventually. Associations of gallbladder non-visualization with cystic fibrosis, aneuploidy, agenesis of the gallbladder and biliary atresia have been reported. We present our experience and review the literature. During the study period from January 2004 to June 2009 we collected prospectively cases of non-visualization of the fetal gallbladder in the second trimester. In each case the fetus was evaluated by two examiners on at least two occasions, at least a week apart. Cases with no additional sonographic malformations were designated as isolated. Further evaluation included follow-up scans and a meticulous search for fetal anomalies. All patients were offered genetic consultation. Cystic fibrosis testing, amniocentesis for karyotyping and analysis of fetal digestive enzymes in the amniotic fluid were offered. We collected 21 cases of non-visualization of the fetal gallbladder, 16 of which were isolated and five of which had additional malformations. In four of these five, the associated anomalies were severe and the pregnancies were terminated for aneuploidy (two cases of trisomy 18 and one triploidy) or for the severity of the associated anomalies. Associated anomalies included left isomerism with complex cardiac anomaly and intrauterine growth restriction with multisystem anomalies. The fifth fetus had interrupted inferior vena cava with azygos continuation without other anomalies and the child was alive and well at the age of 4 years. In 15 of the 16 isolated cases, antenatal and postnatal development were normal at the last follow-up, ranging from 4 months to 2.5 years. One case of cystic fibrosis was diagnosed prenatally and this pregnancy was terminated. There were no diagnoses of abnormal karyotype or biliary atresia among cases of isolated non-visualization of the gallbladder. When prenatal non-visualization of the fetal gallbladder is associated with other severe malformation, aneuploidy should be suspected. When it is isolated, if cystic fibrosis is ruled out, the outcome is good.

Hepatobiliary Scan for Assessing Disease Severity in Patients With Cholelithiasis

To evaluate the role of a hepatobiliary scan for predicting the severity of cholecystitis and the difficulty of laparoscopic cholecystectomy. Prospective study. Department of surgery at a tertiary university hospital. From July 1, 2004, through June 30, 2007, data from 941 patients who underwent a preoperative hepatobiliary scan before laparoscopic cholecystectomy were prospectively recorded. Prediction of the severity of cholecystitis. The overall predictive value of the gallbladder ejection fraction (GBEF) for predicting acute cholecystitis was 82.9% (P < .001), and the sensitivity and specificity of the GBEF at a set point of 30.0% were 92.1% and 61.6%, respectively. The mean (SD) severity of the cholecystitis score and the difficulty in performing laparoscopic cholecystectomy scores in the patients with gallbladder nonvisualization or a GBEF less than 30.0% (2.9 [2.5] and 0.5 [0.9], respectively) were significantly higher than those for the patients with a GBEF of 30.0% or higher (0.5 [1.1] and 0.3 [0.6]; P < .001 and P = .01, respectively). Moreover, the patients with gallbladder nonvisualization or a GBEF less than 30.0% experienced higher rates of complication after laparoscopic cholecystectomy than did the patients with a GBEF of 30.0% or higher (6.3% vs 2.6%; P = .006). A hepatobiliary scan is useful for predicting the severity of cholecystitis, and a difficult laparoscopic cholecystectomy is predicted for patients with gallbladder nonvisualization or a GBEF less than 30.0%.

A Diagnostic Dilemma of Atypical Gallbladder Appearance on Tc-99m HIDA Cholescintigraphy Resolved With SPECT/CT

Tc-99m HIDA cholescintigraphy is the diagnostic procedure of choice for acute cholecystitis. Acute cholecystitis is associated in vast majority of the cases with cystic duct obstruction. The demonstration of presence (cystic duct patency) or absence (cystic duct obstruction) of visualization of the gallbladder on cholescintigraphy is critical to the diagnosis of acute cholecystitis. The visualization of the gallbladder rules out acute cholecystitis in most of the cases. Although, in most cases, determination of visualization or nonvisualization of gallbladder is straight forward, occasionally it can be challenging. We describe a patient with suspected acute cholecystitis, in whom an unusual appearance of the gallbladder on hepatobiliary scintigraphy was clarified with SPECT/CT, an approach that is rarely used in Tc-99m HIDA cholescintigraphy.

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in such pregnancies, according to European recommendations. We report on our 18-year experience to document comprehensive CFTR genotypes and correlations with ultrasound patterns in a series of 694 cases of fetal bowel anomalies. CFTR gene analysis was performed in a multistep process, including search for frequent mutations in the parents and subsequent in-depth search for rare mutations, depending on the context. Ultrasound patterns were correlated with the genotypes. Cases were distinguished according to whether they had been referred directly to our laboratory or after an initial testing in another laboratory. A total of 30 CF fetuses and 8 cases compatible with CFTR-related disorders were identified. CFTR rearrangements were found in 5/30 CF fetuses. 21.2% of fetuses carrying a frequent mutation had a second rare mutation, indicative of CF. The frequency of CF among fetuses with no frequent mutation was 0.43%. Correlation with ultrasound patterns revealed a significant frequency of multiple bowel anomalies in CF fetuses. The results emphasize the need to search for rearrangements in the diagnosis strategy of fetal bowel anomalies. The diagnostic value of ultrasound patterns combining hyperechogenic bowel, loop dilatation and/or non-visualized gallbladder reveals a need to revise current strategies and to offer extensive CFTR gene testing when the triad is diagnosed, even when no frequent mutation is found in the first-step analysis.