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Objectives: Fetal megacystis is very rare; however this problem may be associated with other structural or chromosomal abnormalities leading to morbidity and mortality. Due to renal injury and pulmonary hypoplasia, prognosis is poor especially in fetuses with early onset oligohydramnios. In this study, we evaluated the management strategies and outcomes of fetal megacystis in our hospital.Study Design: The data of cases who were prenatally diagnosed with megacystis between 1 January 2017 and 31 December 2019 were analyzed. Ultrasonography findings and antennal interventions were withdrawn from computerized database. Information about postpartum status was also received. The data were analyzed in terms of diagnostic methods, fetal interventions (vesicosynthesis (VS), vesicoamniotic shunt (VAS)), potential prognostic markers and short/long-term prognostic results.Results: A total of 15 megacystis patients were detected. One of the fetuses was female and the remaining cases were male. Six of the patients were isolated. Ten patients underwent invasive procedures for prenatal aneuploidy diagnosis and one of them diagnosed with trisomy 18. Totally, 4 patients underwent VS; however no VAS was recorded. Four fetuses were terminated and intrauterine fetal demise occurred in 2 fetuses. Four patients were lost during follow up. Survival rate was 33.3%.Conclusion: Fetal megacystis is an important ultrasonographic finding which may be a component of chromosomal / genetic anomalies. This problem may also be isolated in some cases. Because of the poor outcome, parents should be well informed and all interventions should be offered to families.

Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most of the patients described to date carry a sporadic heterozygous variant in ACTG2. More recently, recessive forms have been reported and mutations in MYH11, LMOD1, MYLK and MYL9 have been described at the molecular level. In the present report, we describe five patients carrying a recurrent heterozygous variant in ACTG2. Exome sequencing performed in four families allowed us to identify the genetic cause in three. In two families, we identified variants in MMIHS causal genes, respectively a nonsense homozygous variant in MYH11 and a previously described homozygous deletion in MYL9. Finally, we identified compound heterozygous variants in a novel candidate gene, PDCL3, c.[143_144del];[380G>A], p.[(Tyr48Ter)];[(Cys127Tyr)]. After cDNA analysis, a complete absence of PDLC3 expression was observed in affected individuals, indicating that both mutated transcripts were unstable and prone to mediated mRNA decay. PDCL3 encodes a protein involved in the folding of actin, a key step in thin filament formation. Presumably, loss-of-function of this protein affects the contractility of smooth muscle tissues, making PDCL3 an excellent candidate gene for autosomal recessive forms of MMIHS.

Purpose The objective was to evaluate the feasibility of vesicoamniotic shunting (VAS) in the first trimester with the Somatex® intrauterine shunt and report on complications and neonatal outcome. Methods Retrospective cohort study of all VAS before 14 weeks at two tertiary fetal medicine centres from 2015 to 2018 using a Somatex® intrauterine shunt. All patients with a first trimester diagnosis of megacystis in male fetuses with a longitudinal bladder diameter of at least 15 mm were offered VAS. All patients that opted for VAS after counselling by prenatal medicine specialists, neonatologists and pediatric nephrologists were included in the study. Charts were reviewed for complications, obstetric and neonatal outcomes. Results Ten VAS were performed during the study period in male fetuses at a median GA of 13.3 (12.6–13.9) weeks. There were two terminations of pregnancy (TOP) due to additional malformations and one IUFD. Overall there were four shunt dislocations (40%); three of those between 25–30 weeks GA. Seven neonates were born alive at a median GA of 35.1 weeks (31.0–38.9). There was one neonatal death due to pulmonary hypoplasia. Neonatal kidney function was normal in the six neonates surviving the neonatal period. After exclusion of TOP, perinatal survival was 75%, and 85.7% if only live-born children were considered. Conclusion VAS in the first trimester is feasible with the Somatex® Intrauterine shunt with low fetal and maternal complication rates. Neonatal survival rates are high due to a reduction in pulmonary hypoplasia and the rate of renal failure at birth is very low. VAS can be safely offered from the late first trimester using the Somatex® intrauterine shunt.

Los primeros procedimientos fetales considerados quirúrgicos fueron realizados en 1961, por Liley, al transfundir sangre a fetos con anemia por isoinmunización Rh. En 1974, se realizó la primera fetoscopia diagnóstica, en la Universidad de Yale, EE. UU. Un hito histórico sucede en 1981, cuando Harrison en la Universidad de California realizó por primera vez drenaje en un caso de mega vejiga causado por valva uretral; colocó, bajo control ecográfico, un catéter desde la vejiga a la cavidad amniótica. Por este hecho, se le reconoce como el ‘padre de la cirugía fetal’. En 1982, se reunieron especialistas de 5 países, vinculados a la cirugía fetal, y liderados por Harrison publicaron las primeras normas a regir en este campo nuevo de la medicina. Posteriormente, grupos colaborativos europeos revisaron las aplicaciones de esta cirugía, así como las normas éticas y de seguridad que debían ser prioritarias en estas técnicas. En el 2011, instituciones académicas y de ética de los EE. UU. reafirmaron los principios, ya reconocidos, en los que debían basarse los nuevos centros de alta calidad en cirugía fetal. En 2015, se establecieron las reglas para la innovación tecnológica y la investigación en este campo, remarcando la necesidad de crear los comités de ética. En el 2017, los especialistas involucrados, nuevamente convocados por organizaciones académicas de los EE. UU., emitieron opinión sobre el contexto global de esta cirugía, las obligaciones éticas, de infraestructura, implementación tecnológica, investigación conjunta y capacitación integral del equipo; remarcaron la necesidad de crear los comités de supervisión en estos centros. En América Latina, el desarrollo de la cirugía fetal se encuentra en una etapa intermedia, de acuerdo a los reportes actuales. En el Perú, se ha publicado artículos sobre los primeros casos de cirugía prenatal.

Objective To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third trimesters of pregnancy, as an alternative to the commonly used ultrasound triad of megacystis, keyhole sign and hydronephrosis.Methods This was a national retrospective study carried out at the eight tertiary fetal medicine units (FMUs) in The Netherlands. Only cases referred for megacystis from the second trimester onwards and with a clear postnatal diagnosis were included in the study. At referral, data were collected on amniotic fluid volume, renal cortical appearance, bladder volume, hydronephrosis, fetal ascites, ureteral size, keyhole sign, fetal sex and gestational age. Multivariate analysis was performed, starting by including all antenatal variables, and then excluding the weakest predictors using the backward stepwise strategy.Results Over a 7-year period, 312 fetuses with a diagnosis of megacystis were referred to the eight Dutch tertiary FMUs. A final diagnosis was achieved in 143 cases, including 124 of LUTO and 19 reclassified after birth as non-obstructive megacystis. The optimal bladder volume cut-off for prediction of LUTO was 35 cm(3) (area under the curve (AUC) = 0.7, P = 0.03). The clinical score formulated on the basis of the multivariate analysis included fetal sex, degree of bladder distension, ureteral size, oligo-or anhydramnios and gestational age at referral. The combination of these five variables demonstrated good accuracy in discriminating LUTO from non-obstructive megacystis (AUC = 0.84, P Conclusions We propose a clinical score that combines five antenatal variables for the prospective diagnosis of congenital LUTO. This score showed good discriminative capacity in predicting LUTO, and better diagnostic accuracy compared with that of the classic ultrasound triad. Future studies to validate these results should be carried out in order to refine antenatal management of LUTO and prevent inappropriate fetal interventions. (C) 2017 The Authors.

To assess prenatal prognostic criteria for fetuses with megacystis in order to counsel parents. In a retrospective observational study at a single tertiary referral center, we assessed the clinical course of 53 fetuses with megacystis cared for at the Department of Obstetrics of the University Hospital Zurich between 1995 and 2008 and followed them up for 2 to 12 years. We determined fetal karyotype, amniotic fluid volume and fetal urinary biochemistry as prenatal prognostic factors. The renal function of survivors was grouped according to age-related creatinine values. Using logistic regression analysis, gestational age-dependent discrimination curves and corresponding ROC curves for fetal urine, beta-2 microglobulin, osmolarity and chloride were calculated. 43 out of 53 fetuses underwent vesicocentesis, and spontaneous remission occurred in 3 fetuses. 15 fetuses survived, termination of pregnancy was requested in 23 cases, and 12 neonatal and 3 intrauterine deaths were observed. Reduced amniotic fluid volume showed a significant (p = 0.0027) increase of impaired renal function or perinatal death. Discrimination between survivors and non-survivors was complete for fetal urine beta-2 microglobulin with an area under the curve (AUC) of 1.0. For fetal urine osmolarity and fetal urinary chloride, the AUC was 0.81 and 0.76, respectively. The assessment of prognosis for fetal megacystis should include fetal k aryotyping, determination of amniotic fluid and assessment of fetal urine biochemistry. Gestational age-dependent regression lines disclose clinically relevant discrimination and can be used as selection criteria for fetal interventions and parental counselling.ZIEL: Zur Beratung der Eltern, deren Feten eine Megavesika aufweisen, sollen prognostische Kriterien evaluiert werden. In einer retrospektiven Beobachtungsstudie am Perinatalzentrum des Universitätsspitals Zürich wurden zwischen 1995 und 2008 53 Feten mit Megavesika betreut und für 2 bis 12 Jahre nachuntersucht. Als Prognosefaktoren wurden der fetale Karyotyp, die Fruchtwassermenge und die Biochemie des fetalen Urins bestimmt. Die Nierenfunktion der Überlebenden wurde aufgrund der altersabhängigen Kreatininwerte klassiert. Mittels logistischer Regression wurden schwangerschaftsalterabhängige Regressionskurven und die zugehörigen ROC-Kurven für das fetale beta-2 Mikroglobulin im Urin, die Urin-Osmolarität und das Urin-Chlorid bestimmt. 43 von 53 Feten wurden einer Vesicozentese unterzogen und in 3 Fällen kam es zu einer Spontanremission. 15 Feten überlebten, ein Schwangerschaftsabbruch wurde in 23 Fällen durchgeführt und 12 neonatale und 3 intrauterine Todesfälle wurden beobachtet. Eine verminderte Fruchtwassermenge war signifikant (p = 0.0027) mit einer verminderten Nierenfunktion oder einem perinatalen Tod assoziiert. Die Trennung von Überlebenden und Nicht-Überlebenden war mittels fetalem Urin beta-2 Mikrogloblulin bei einer Fläche unter der Kurve (AUC) von 1,0 komplett möglich. Für die fetale Urin-Osmolarität wurde eine AUC von 0.81 und das fetale Urin-Chlorid von 0.76 kalkuliert. Zur Prognoseeinschätzung bei fetaler Megavesika sollten eine fetale Karyotypisierung, die Bestimmung der Fruchtwassermenge und die Analyse der fetalen Urinbiochemie erfolgen. Schwangerschaftsalterabhängige Regressionskurven ermöglichen eine klinisch hilfreiche Trennung zwischen Überlebenden und Nicht-Überlebenden und sind somit wertvolle Kriterien für die Indikationsstellung vor fetalen Interventionen und zur Beratung der Eltern.

Objectives: To investigate the natural history of fetal megacystis from diagnosis in utero to postnatal outcome, and to identify prognostic indicators of spontaneous resolution and postnatal outcome after resolution. Methods: This was a national retrospective cohort study. Fetal megacystis was defined in the first trimester as a longitudinal bladder diameter (LBD) ≥ 7 mm, and in the second and third trimesters as an enlarged bladder failing to empty during the entire extended ultrasound examination. LBD and gestational age (GA) at resolution were investigated with respect to likelihood of resolution and postnatal outcome, respectively. Sensitivity, specificity and area under the receiver–operating characteristics curve (AUC) were calculated. Results: In total, 284 cases of fetal megacystis (93 early megacystis, identified before the 18th week, and 191 late megacystis, identified at or after the 18th week) were available for analysis. Spontaneous resolution occurred before birth in 58 (20%) cases. In cases with early megacystis, LBD was predictive of the likelihood of spontaneous resolution (sensitivity, 80%; specificity, 79%; AUC, 0.84), and, in the whole population, GA at regression was predictive of postnatal outcome, with an optimal cut-off at 23 weeks (sensitivity, 100%; specificity, 82%; AUC, 0.91). In the group with early megacystis, the outcome was invariably good when resolution occurred before the 23rd week of gestation, whereas urological sequelae requiring postnatal surgery were diagnosed in 3/8 (38%) cases with resolution after 23 weeks. In the group with late megacystis, spontaneous resolution was associated with urological complications after birth, ranging from mild postnatal hydronephrosis in infants with resolution before 23 weeks, to more severe urological anomalies requiring postnatal surgery in those with resolution later in pregnancy. This supports the hypothesis that an early resolution of megacystis is often related to a paraphysiological bladder enlargement that resolves early in pregnancy without consequences, while antenatal resolution occurring later in pregnancy (after the 23rd week of gestation) should suggest a pathological condition with urological sequelae. Conclusions: In fetal megacystis, LBD and GA at regression can be used as predictors of resolution and outcome, respectively. These parameters could help in fine-tuning the prognosis and optimizing the frequency of follow-up scans.

Congenital anomalies of the kidney and urinary tract (CAKUT) include isolated kidney malformations and urinary tract malformations. They have also been reported in Prune-Belly syndrome (PBS) and associated genetic syndromes, mainly 13, 18 and 21 trisomy. The AA focuses on bladder and urethral malformations, evaluating the structural and histological differences between two different cases of megacystis. Both bladders were examined by routine prenatal ultrasound screening and immunohistochemistry, comparing the different expression of smooth muscular actin (SMA), S100 protein and WT1c in megacystis and bladders of normal control from fetuses of XXI gestational age. Considering the relationship between the enteric nervous system and urinary tract development, the AA evaluated S100 and WT1c expression both in bladder and bowel muscular layers. Both markers were not expressed in the bladder and bowel of PBS associated with anencephaly. In conclusion, megacystis could be considered only a macroscopic definition, concerning the size of the fetal bladder rather than the embryologic origin, it may be a single or multiple malformation, the possible association with the bowel and/or encephalic malformations will decide the outcome and prognosis in fetal megacystis.

Objective To propose a clinical score for the optimal antenatal diagnosis of fetal lower urinary tract obstruction (LUTO) in the second and third trimesters of pregnancy, as an alternative to the commonly used ultrasound triad of megacystis, keyhole sign and hydronephrosis. Methods This was a national retrospective study carried out at the eight tertiary fetal medicine units (FMUs) in The Netherlands. Only cases referred for megacystis from the second trimester onwards and with a clear postnatal diagnosis were included in the study. At referral, data were collected on amniotic fluid volume, renal cortical appearance, bladder volume, hydronephrosis, fetal ascites, ureteral size, keyhole sign, fetal sex and gestational age. Multivariate analysis was performed, starting by including all antenatal variables, and then excluding the weakest predictors using the backward stepwise strategy. Results Over a 7-year period, 312 fetuses with a diagnosis of megacystis were referred to the eight Dutch tertiary FMUs. A final diagnosis was achieved in 143 cases, including 124 of LUTO and 19 reclassified after birth as non-obstructive megacystis. The optimal bladder volume cut-off for prediction of LUTO was 35 cm(3) (area under the curve (AUC) = 0.7, P = 0.03). The clinical score formulated on the basis of the multivariate analysis included fetal sex, degree of bladder distension, ureteral size, oligo-or anhydramnios and gestational age at referral. The combination of these five variables demonstrated good accuracy in discriminating LUTO from non-obstructive megacystis (AUC = 0.84, P

Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethral atresia. Methods: A retrospective national study was conducted in fetuses with megacystis detected before 17 weeks’ gestation (early megacystis). Results: In total, 142 cases with fetal megacystis were included in the study: 52 with lower urinary tract obstruction, 29 with normal micturition at birth, and 61 with miscellaneous syndromal associations, chromosomal and multiple structural abnormalities (complex megacystis). Only a nuchal translucency > 95th centile, and not a longitudinal bladder diameter ≤15 mm (p = 0.24), significantly increased the risk of complex megacystis (p < 0.01). Cases with a high chance of spontaneous resolution were identified by using the cut-off of 12 mm, as demonstrated in a previous study, and the finding of an associated umbilical cord cyst carried a high-risk of urethral atresia (odds ratio: 15; p = 0.026), an unfavorable condition for antenatal treatment. An algorithm encompassing these three criteria demonstrated good accuracy in selecting fetuses theoretically eligible for fetal treatment (specificity 73%; sensitivity 92%). Conclusions: Cases theoretically eligible for early fetal therapy are those with normal nuchal translucency, a longitudinal bladder diameter > 12 mm, and without ultrasound evidence of umbilical cord cysts.

Measurement of urinary β2M (beta 2-microglobulin) is a sensitive and reliable assay for detecting tubular injury, renal toxicity, lymphomas, leukemia, or myeloma. Some chemical substrates may increase the level of β2M in-vivo. Elevated β2M level in urine is unusual because it rapidly degrades when pH is below 6. The level of β2M in the bladder can also be used as a marker to assess renal tubular maturation in neonates. β2M in the bladder could be a result of fetal megacystis, which is an abnormally enlarged bladder appearing after 10 weeks of gestation, when the fetus begins to produce urine. Identification of the pregnant women instead of the fetus is a common pre-analytical error with samples sent from the gynecology clinic to the laboratory. Here we present the case of a 24-year-old pregnant woman whose urine analysis results indicated excessively high β2M level in the urine. The present study could improve the understanding of urinary β2M analysis, laboratory errors, and the interpretation of test results.

Rationale: The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. Patient concerns: The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, “keyhole” feature, and thick bladder wall. Diagnoses: Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities. Outcomes: Moreover, the fetus showed edema, umbilical cord cyst, cardiac dysplasia, hook-shaped hand, and strephenopodia. These abnormalities strongly suggested chromosomal abnormalities. The fetus was diagnosed with trisomy 18 by amniocentesis. Posterior urethral obstructive megacystis was confirmed by pathology. Lessons: In conclusion, this case suggests that in the presence of fetal megacystis and multisystem abnormalities, causes should be investigated and the possibility of chromosomal abnormalities should be considered in the presence of multisystem developmental abnormalities.

Objectives: The aim of the study was to assess the outcome of vesico-amniotic shunting performed before 16 weeks of pregnancy in fetuses with severe megacystis diagnosed in the first trimester of pregnancy. Material and methods: Between January 2008 and October 2012 severe megacystis with the bladder length > 15 mm was diagnosed in 17 fetuses. The procedure of early vesico-amniotic shunting (VAS) was offered to 8 patients with presumably isolated LUTO. The procedure of VAS was performed in 6 fetuses. Before the intervention one or two procedures of vesicocentesis and urine analysis were performed. Results: In all treated cases shunts provided urinary tract decompression. All babies were born prematurely, 2 of them died due to premaurity, 3 of them survived and have normal renal function at the age of 5–6 years. In 4/5 children accompanying malformations were later diagnosed, in 1 born prematurely neonate necropsy was not performed. Conclusions: Our results suggest that early vesico-amniotic shunting in fetal LUTO is feasible and may potentially prevent not only pulmonary hypoplasia but also renal insufficiency. However, the rationale of the procedure needs further investigation due to a high risk of long-term morbidity and co-existing malformations in children Before offering the therapy detailed counseling of the parents about the possible pros and cons of the therapy is necessary.

To examine the outcome of fetuses with megacystis treated with vesicoamniotic shunting (VAS) from 14 weeks onward.Retrospective review of all fetuses that received VAS at two centres from 2004 to 2012.53 fetuses with megacystis were included in the study. Mean gestational age at diagnosis was 16.4 weeks. Mean gestational age at first shunt placement was 17.8 weeks. The first shunt placement was performed before 16 weeks in 18 (34 %) cases. The mean number of shunts was 1.38. Dislocation occurred in 35 (66 %). TOP was performed in 21 (39.6 %), intrauterine death occurred in two (3.8 %) and spontaneous abortion in three cases (5.7 %). Of the 27 (50.9 %) live births, 17 (32.1 %) infants survived. Normal renal function was present in 10 cases, 4 have compensated renal failure and 3 infants had renal transplantation. Oligohydramnios was significantly associated with non-survival and renal insufficiency. The gestational age at VAS was neither correlated with renal function after birth nor with the survival in our cohort. Conversely, the interval between first shunt placement and delivery was positively correlated with survival and normal renal function. The gestational age at delivery was significantly higher in survivors and those born with normal renal function.Despite intervention, the morbidity and mortality of megacystis is still high. We failed to demonstrate that early intervention is associated with an improved rate of normal renal function after birth. Oligohydramnios was the only parameter identifying fetuses with unfavourable outcome, while all other parameters were inconclusive.

Summary Objective We describe a case of neonatal-onset chronic intestinal pseudo-obstruction syndrome (CIPS) with in utero urological manifestation as congenital megacystis. Pitfalls in the interpretation of prenatal sonographic appearance, genetic counseling, and differential diagnosis are discussed. Case Report A 28-year-old Taiwanese woman, gravida 6, para 3, was referred for further sonographic examination because of a suspected fetal abdominal cyst. Targeted ultrasound at 28 weeks' gestation showed megacystis filling the abdominal cavity. The renal parenchyma appeared normal, and there was no evidence of reflux hydroureteronephrosis. At 38 weeks of gestation, the patient spontaneously delivered a female infant weighing 3,350 g with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. At the age of 12 days, the infant still required Foley catheterization because of voiding difficulty, so reduction cystoplasty was performed. The infant presented with recurrent episodes of intestinal obstruction thereafter and underwent ileostomy and resections of segmental intestine loops (3 times) in the ensuing years. At the age of 6 years, she is orally fed with partial parenteral infusion support, and the voiding act is satisfactory. Conclusion Attention should be given to the prenatal diagnosis of neonatal-onset CIPS when fetal congenital megacystis with unknown etiology is first detected. Whether there is any relationship between the megacystismicrocolon-intestinal-hypoperistalsis syndrome, CIPS, and pure congenital megacystis requires further study.

Aims To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation.Methods At the 10-14-week scan fetal megacystis was defined by a lontitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder.Results Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. In the group with longitudinal bladder diameter of 7-15 mm the incidence of chromosomal defects was 23.6% (26/110), whereas in those with bladder diameter >15 mm the incidence was 11.4% (4/35). The fetal nuchal translucency (NT) was above the 95th centile of the normal range for crown-rump length in a higher proportion of cases with abnormal rather than normal karyotype (76.7% compared to 31.3%; Chi-square P 15 mm demonstrated spontaneous resolution of the megacystis.Conclusions In fetal megacystis with longitudinal bladder diameter of 7-15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. If the bladder diameter is > 15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy. Copyright (C) 2003 ISUOG. Published by John Wiley Sons, Ltd.

RATIONALE The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES Here, we present a case of fetal megacystis diagnosed by ultrasound at pregnancy week 15+2 and with multisystem abnormalities. OUTCOMES Moreover, the fetus showed edema, umbilical cord cyst, cardiac dysplasia, hook-shaped hand, and strephenopodia. These abnormalities strongly suggested chromosomal abnormalities. The fetus was diagnosed with trisomy 18 by amniocentesis. Posterior urethral obstructive megacystis was confirmed by pathology. LESSONS In conclusion, this case suggests that in the presence of fetal megacystis and multisystem abnormalities, causes should be investigated and the possibility of chromosomal abnormalities should be considered in the presence of multisystem developmental abnormalities.

Objective The purpose of this study was to evaluate the prognostic criteria of early fetal megacystis. Design A prospective, transvaginal ultrasound, crosssectional study at 11–15 weeks of gestation at a tertiary referral fetal medicine unit. Subjects and methods Sixteen pregnancies out of a total of 5240 were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were also evaluated. The karyotype was available in 15 cases. Vesicocentesis was performed in six fetuses and three had concomitant cystoscopies. Results In six fetuses, the megacystis was isolated. In the remaining ten, we detected associated hygroma (n = 5), nuchal translucency (n = 3), omphalocele (n = 1), mild pyelectasis (n = 1) and bilateral talipes (n = 1). In three cases the fetuses demonstrated renal hyperechogenicity with cysts, and in two cases oligohydramnios was found; four cases (25%) had chromosomal abnormalities; 47,XY + 13 (two cases), 47,XY + 18 and 47,XY + 21. Only one fetus from this study survived. In the remaining 13 cases, termination was proposed after counselling of the patients on the poor prognosis. The mean gestational age at termination was 15.5 ± 2.4 weeks (range 12–20). Three fetal transabdominal cystoscopies did not allow us to view the valves; one urethral atresia was suspected, and confirmed postnatally. Conclusions We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.

A 2,510 g female newborn was delivered by Cesarean section at 33 weeks gestation due to increasing volume of her huge bladder and bilateral hydronephrosis. Just after birth 190 ml of urine was drainaged by catheterization without difficulty. Voiding cystourethrography showed no VUR. She had no ureteral dilation, either. Urodynamic study revealed large bladder capacity and detrusor hypocontractility. Neither neurological nor gastrointestinal abnormality was detected neonatally. Clean intermitted catheterization was performed every 4 hours. At 12 months of her age she had no history of urinary tract infection. However, as she grew up with normal diet, severe constipation became apparent. This is a case of idiopathic intestinal pseudo-obstruction syndrome whose gastrointestinal symptom was masked in the newborn period. Attention should be paid for gastrointestinal tract as well as urinary tract when the body has congenital megacystis with unknown etiology.

During the study period, 24,492 pregnant women attended the Harris Birthright Research Centre at 10-14 weeks of gestation, at which time, in addition to the measurements of nuchal translucency thickness and crown-rump length (CRL), data on fetal abnormalities were recorded onto a computer database. Cases of megacystis were identified and the records were reviewed. Additionally, the relationship of the longitudinal bladder diameter with the CRL and the bladder diameter/CRL ratio (expressed as a percentage) were examined with the use of data from 300 normal fetuses at 10-14 weeks. Megacystis was present in 15 of the 24,492 pregnancies (1 in 1,633) and in these cases the minimum longitudinal bladder diameter was 8 mm and the minimum bladder diameter/CRL ratio was 13%. In the 300 control fetuses the bladder was visualized in 278 (92.7%) of the cases and the longitudinal bladder diameter increased with the CRL (bladder diameter = 0.065 x CRL - 0.69; r = 0.47, p < 0.001), none of the measurements was more than 6 mm and the median bladder diameter/CRL ratio was 5.4% (range 0-10.4%) which did not change significantly with gestation (r = 0.1, p = 0.09). The bladder was visible in all cases with a minimum CRL of 67 mm. In three of the 15 cases with megacystis, there were chromosomal abnormalities. In the chromosomally normal group, there were seven cases with spontaneous resolution, whereas in four cases there was progression to severe obstructive uropathy. The bladder diameter was 8-12 mm and the bladder diameter/CRL ratio 13-22% in all cases with resolution and in one case with progressive megacystis; in the other three cases with progressive obstruction, the bladder length was more than 16 mm and the bladder diameter/CRL ratio was more than 28%.

Isolated congenital megacystis represents a rare variant of fetal megacystis without other associated anomalies. The etiology is unclear, and various management strategies have been proposed. We report a case of isolated congenital megacystis that resolved over the first year of life with observation alone. Considerations for the evaluation and management of this rare entity are discussed.

A 24-year-old primigravid women with no remarkable history and antenatal follow-up was referred to our clinic with the diagnosis of fetal megacystis. Ultrasound examination revealed an oval shaped hypoechoic cystic mass measuring 80×55×50 mm occupying the fetal pelvis in a female fetus. The fluid inside the cyst was heterogeneous giving a two level appearance. A normal looking urinary bladder was visualised separately which was located in normal position. Further sonographic evaluation revealed postaxial polydactyly in both hands. The fetal echocardiography and amniotic fluid index was normal. An obstetrical MRI was done for the suspicion of a hydrometrocolpos and confirmed the diagnosis. The infant was delivered by vaginal route at term. Physical examination of neonate confirmed postaxial polydactyly in hands. After birth a cystoscopy performed by the paediatric surgeons revealed a urogenital sinus and vaginal atresia. A catheter was placed in the uterine cavity to drain it. Nine months later the baby went on a ‘vaginal pull through’ operation to reconstruct the vagina and the urethra. The baby is now 3 years old and doing well.

Objective: Fetal megacystis in the first and second trimesters of pregnancy is an indication for diagnostic vesicocentesis. Our goal is to assess the effectiveness of early vesicocentesis as a treatment option of megacystis. Materials and Methods: From 1995 to 2005, 18 pregnancies were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were evaluated. Karyotype was available in 6 cases (6/18 = 33%). Vesicocentesis was performed in 8 fetuses (8/18 = 44%). Fetal urine biochemical markers were determined after each vesicocentesis. Results: Megacystis was never isolated: 6 cases (6/18 = 33%) demonstrated oligohydramnios or anhydramnios, 5 fetuses (5/18 = 28%) presented renal dysplasia, 4 had renal hyperechogenicity (4/18 = 22%), 3 had mild pyelectasis (3/18 = 17%), 1 ureteral dilatation (1/18 = 5.5%) and 1 a polymalformative syndrome with sacrococcigeal mielomeningocele (1/18 = 5.5%). Any case had chromosomal abnormalities. In 3 fetuses (3/8 = 37.5%) biochemical markers indicated a good fetal kidney function, in the remaining 5 fetuses (5/8 = 62.5%) a poor renal prognosis was suggested. In 2 cases (2/8 = 25%) pregnancy proceeded with normal amniotic fluid volume and a normal-sized urinary bladder with normal dynamics. In 3 cases (3/8 = 37.5%) megacystis recurred and a second vesicocentesis was performed. In the remaining 3 cases (3/8 = 37.5%): 2 terminations of pregnancy were performed and 1 spontaneous abortion occurred. Conclusions: Fetal vesicocentesis in the first trimester of gestation is a useful treatment option in case of megacystis. Fetal vesicocentesis is a minimally invasive procedure that can be life-saving if performed in early pregnancy.

Objective: Fetal megacystis in the first and second trimesters of pregnancy is an indication for diagnostic vesicocentesis. Our goal is to assess the effectiveness of early vesicocentesis as a treatment option of megacystis. Materials and Methods: From 1995 to 2005, 18 pregnancies were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were evaluated. Karyotype was available in 6 cases (6/18 = 33%). Vesicocentesis was performed in 8 fetuses (8/18 = 44%). Fetal urine biochemical markers were determined after each vesicocentesis. Results: Megacystis was never isolated: 6 cases (6/18 = 33%) demonstrated oligohydramnios or anhydramnios, 5 fetuses (5/18 = 28%) presented renal dysplasia, 4 had renal hyperechogenicity (4/18 = 22%), 3 had mild pyelectasis (3/18 = 17%), 1 ureteral dilatation (1/18 = 5.5%) and 1 a polymalformative syndrome with sacrococcigeal mielomeningocele (1/18 = 5.5%). Any case had chromosomal abnormalities. In 3 fetuses (3/8 = 37.5%) biochemical markers indicated a good fetal kidney function, in the remaining 5 fetuses (5/8 = 62.5%) a poor renal prognosis was suggested. In 2 cases (2/8 = 25%) pregnancy proceeded with normal amniotic fluid volume and a normal-sized urinary bladder with normal dynamics. In 3 cases (3/8 = 37.5%) megacystis recurred and a second vesicocentesis was performed. In the remaining 3 cases (3/8 = 37.5%): 2 terminations of pregnancy were performed and 1 spontaneous abortion occurred. Conclusions: Fetal vesicocentesis in the first trimester of gestation is a useful treatment option in case of megacystis. Fetal vesicocentesis is a minimally invasive procedure that can be life-saving if performed in early pregnancy.