Fetal megacystis: a lot more than LUTO

Fontanella, F.; Maggio, Luana; Verheij, Joanne; Duin, L. K.; Scheltema, P. N. Adama van; Cohen–Overbeek, Titia E.; Pajkrt, Eva; Bekker, Mireille N.; Willekes, Christine; Bax, Caroline J.; Gracchi, Valentina; Oepkes, Dick; Bilardo, C. M.

doi:10.1002/uog.19182

Cited by 51 publications

(41 citation statements)

References 35 publications

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“…The aneuploidy risk of 12.2% in first trimester fetal megacystis in this study falls within the range of 0%–28% reported in previously published papers, 1,3,6,8‐10 although many studies also include fetuses across all gestational age 2,4,5,7 . In our population, trisomy 18 (6/12) was the most common diagnosis followed by trisomy 13 and trisomy 21, accounting for 3 cases, respectively.…”

Section: Discussionsupporting

confidence: 78%

“…According to the first trimester aneuploidy screening algorithm, fetal megacystis with LBD of 7 to 15 mm confers approximately 20% risk of chromosomal abnormalities, mainly trisomy 18 and 13, irrespective of other ultrasound findings; in contrast, fetal megacystis with LBD >15 mm confers a 10% risk of aneuploidy but a 100% association with obstructive uropathy 3 . However, the literature for aneuploidy risk associated with fetal megacystis in the first trimester is heterogeneous and has been reported between 0%–28% 1‐10 . A number of prognostic factors, such as enlarged nuchal translucency, varying LBD cut‐off thresholds, amniotic fluid abnormalities, and other structural abnormalities, have been associated with adverse perinatal outcomes; however, the predictive value of maternal and fetal characteristics during the first trimester remains unclear because a large proportion of the literature reports perinatal outcome of fetal megacystis diagnosed throughout all gestations and the results appear quite mixed.…”

Section: Introductionmentioning

confidence: 99%

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Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11–14 week's gestation

et al. 2020

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Objectives To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11–14 week's gestation. Methods A retrospective study of first trimester fetal megacystis from 2010 to 2020 was performed, including ultrasound finding, perinatal outcomes, pathology reports, genetic tests, and neonatal investigations. Results A total of 98 cases of first trimester fetal megacystis was identified with an overall aneuploidy rate of 12%. There were 54% live births and 46% fetal losses including spontaneous fetal demise and elective termination. Among the 45 fetal losses, 64% had additional structural abnormalities at index ultrasound and final diagnoses were achievable in 64% cases. Among the 53 livebirths, additional ultrasound abnormalities were detected in only 1 fetus and spontaneous resolution of megacystis was detected in 96% of cases. The two cases where fetal megacystis persisted had major postnatal diagnoses: cloacal malformation and megacystis‐microcolon‐intestinal hypoperistalsis syndrome, respectively. Our data showed LBD ≥ 12 mm was the best individual predictor of adverse perinatal outcome and all 11 cases of lower urinary tract obstruction (LUTO) were diagnosed in fetuses with LBD ≥ 12 mm. Conclusions First trimester ultrasound provides important prognostic factors and isolated megacystis <12 mm is associated with a positive outcome.

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Section: Discussionsupporting

confidence: 78%

Section: Introductionmentioning

confidence: 99%

Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11–14 week's gestation

et al. 2020

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“…According to a systemic review, the most common abnormalities associated with fetal megacystis was reported to be increased NT, followed by SUA and cardiac anomalies (10). Increased intestinal echogenicity, echogenic kidneys, and pelvicaliectasis were the most common findings in our series.…”

Section: Discussionmentioning

confidence: 52%

“…Presence of additional concomitant anomalies, chromosomal anomalies, early detection and anhydramnios in early gestational weeks are generally related to poor prognosis. Also, laboratory findings are the other important prognostic markers which show the renal function (10). Termination of pregnancy is an acceptable intervention if any bad prognostic criteria are obtained after careful evaluation.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Fetuses Diagnosed With Megacystis During Prenatal Period

Sarsmaz

Kanyildiz

Örgül

et al. 2020

Gynecol Obstet Reprod Med

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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.

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“…In conclusion, megacystis could be considered only a macroscopic definition, concerning the size of the fetal bladder rather than the embryologic origin [9]. A larger bladder may be a single malformation or multiple malformations associated with the bowel and/or encephalic malformations, which decide the outcome and prognosis in fetal megacystis.…”

Section: Discussionmentioning

confidence: 99%

Fetal Megacystis: A New Morphologic, Immunohistological and Embriogenetic Approach

et al. 2019

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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.

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Fetal megacystis: a lot more than LUTO

Cited by 51 publications

References 35 publications

Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11–14 week's gestation

Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11–14 week's gestation

Evaluation of Fetuses Diagnosed With Megacystis During Prenatal Period

Fetal Megacystis: A New Morphologic, Immunohistological and Embriogenetic Approach

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