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Fetal megacystis

M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
Argyro Syngelaki, Leonardo Guerra, Irene Ceccacci, Tunay Efeturk, Kypros H Nicolaides
OBJECTIVE: To examine the prevalence of alobal holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥3.5 mm, the incidence and types of associated chromosomal abnormalities and the overall impact on the rate of invasive testing and performance of screening for chromosomal abnormalities of offering invasive testing for these four fetal conditions. METHODS: Prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test in three maternity units in England...
August 25, 2016: Ultrasound in Obstetrics & Gynecology
R Stadié, B Strizek, I Gottschalk, A Geipel, U Gembruch, C Berg
OBJECTIVE: To examine the outcome of fetuses with megacystis treated with vesicoamniotic shunting (VAS) from 14 weeks onward. METHODS: Retrospective review of all fetuses that received VAS at two centres from 2004 to 2012. RESULTS: 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...
July 9, 2016: Archives of Gynecology and Obstetrics
Maria A Calvo-Garcia
Evaluation of the kidneys, bladder, and amniotic fluid volume forms part of any standard obstetrical ultrasound. When a fetal genitourinary anomaly is suspected, a more detailed evaluation is necessary. This detailed imaging can be challenging in the setting of decreased or absent amniotic fluid or large maternal body habitus, and in complex malformations. In these situations, magnetic resonance imaging can help to better define the fetal anatomy and provide a more confident and specific prenatal diagnosis.
December 2015: Seminars in Ultrasound, CT, and MR
F Dhombres, S Friszer, O Castaing, R Bessis, J-M Jouannic
OBJECTIVES: Abdominal cysts are seldom detected at the first trimester scan. The aim of this study is to ascertain their outcome, which is currently not established. METHODS: The French College of Fetal Ultrasound conducted a prospective observational study of 24months, collecting all cases of abdominal cysts discovered during the first trimester ultrasound. Cases of megacystis were excluded from the study. Ultrasound images, prenatal diagnosis expert reports and pregnancy outcomes were collected by sonographers after patient consent...
July 2015: Gynécologie, Obstétrique & Fertilité
Lea Tuzovic, Sha Tang, Russell S Miller, Luis Rohena, Layla Shahmirzadi, Kelly Gonzalez, Xiang Li, Charles A LeDuc, Jiancheng Guo, Ashley Wilson, Ashley Mills, Kenneth Glassberg, Heidi Rotterdam, Antonia R Sepulveda, Wenqi Zeng, Wendy K Chung, Kwame Anyane-Yeboa
OBJECTIVE: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS: Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS: We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>A (p.Arg257His) encoding x03B3;-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents...
2015: Fetal Diagnosis and Therapy
X Torres Montebruno, J M Martinez, E Eixarch, O Gómez, L García Aparicio, M Castañón, E Gratacos
We report on the successful use of fetoscopic surgery to treat a case of prolapsed ureterocele in a female fetus. At 21 weeks' gestation, a double renal system with an intravesical ureterocele obstructing the bladder outlet was diagnosed, causing severe megacystis, bilateral hydronephrosis and progressive oligohydramnios. Ultrasound evaluation following referral to our center confirmed severe bilateral hydronephrosis with pelvic and calyceal dilatation, but amniotic fluid volume was normal and the ureterocele was not visualized in the bladder...
November 2015: Ultrasound in Obstetrics & Gynecology
Myriam Delomenie, Floriane Schneider, Joëlle Beaudet, René Gabriel, Nathalie Bednarek, Olivier Graesslin
Carbon monoxide poisoning during pregnancy is a rare and potentially serious condition. Fetal complications are uncommon, related to anoxic lesions. The severity of these complications does not depend on the level of maternal COHb. We report the case of a 22-year-old pregnant woman who at 30 weeks of gestation had carbon monoxide poisoning secondary to a fire in her home, complicated by cardiac arrest and severe fetal damage. The child had not brain damage, but presented bladder lesions not previously described, with urinary ascites complicating megacystis...
2015: Case Reports in Obstetrics and Gynecology
Jérôme Mathis, Luigi Raio, David Baud
Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or fetal hyperechoic lung lesions can lead to fetal compromise and hydrops by vascular steal phenomenon or compression...
July 2015: Prenatal Diagnosis
Anne-Claude Müller Brochut, Daniel Thomann, Wolfram Kluwe, Edoardo Di Naro, Anette Kuhn, Luigi Raio
OBJECTIVES: Megacystis (MC) is rare and often associated with other structural and chromosomal anomalies. In euploid cases with early oligohydramnios, prognosis is poor mainly due to pulmonary hypoplasia and renal damage. We report our experience of the past 20 years. METHODS: A retrospective review of cases with prenatally diagnosed MC was performed. Complete prenatal as well as postnatal medical records from 1989 to 2009 were reviewed focusing on diagnostic precision, fetal interventions [vesicocentesis (VC), vesicoamniotic shunt (VAS)], short- and long-term outcome, and potential prognostic factors...
2014: Fetal Diagnosis and Therapy
Rogelio Cruz-Martínez, Eduard Gratacos
At present, the fetus is already considered a "patient" and as such, can develop diseases with fatal outcome in which the only therapeutic option can be fetal surgery. Currently, fetal surgery is limited almost exclusively to endoscopic surgery. Different techniques have gained clinical acceptance for improving the prognosis of various lethal fetal pathologies. Laser therapy for twin to twin transfusion syndrome and cord occlusion in monochorionic twins with selective intrauterine growth restriction are the procedures of choice for the management of monochorionic twins complications, and are associated with survival rates of up to 80-90% for at least one fetus...
May 2014: Ginecología y Obstetricia de México
Farshid Alizadeh
No abstract text is available yet for this article.
March 2014: Urology Journal
Lucile Fievet, Alice Faure, Stéphanie Coze, Luke Harper, Nicoleta Panait, David Braunstein, James Carson, Guillaume Gorincour, Kathia Chaumoitre, Jean-Michel Guys, Pierre Alessandrini, Claude D'Ercole, Thierry Merrot
OBJECTIVE: To describe the diagnostic criteria and outcome of fetal megacystis according to the gestational age at diagnosis. METHODS: A 7-year retrospective study was carried out from 2004 to 2011, including cases of megacystis referred to 2 prenatal fetal medicine units. The following data were collected and analyzed: maternal age, term at diagnosis (gestational weeks), ultrasonographic and magnetic resonance imaging data, karyotype, decision of the multidisciplinary prenatal team, fetopathology in cases of termination of pregnancy or fetal death, final diagnosis at birth after ultrasonography and voiding cystourethrography, and medical and surgical follow-up...
July 2014: Urology
Ibrahim Anwar Abdelazim, Maha Mohamed Belal
OBJECTIVE: This prospective study was designed to detect the role of magnetic resonance imaging (MRI) in refining the diagnosis of suspected fetal renal anomalies detected during screening sonography. MATERIAL AND METHODS: 54 pregnant women, with suspected fetal renal anomalies detected during routine ultrasound screening, were rescanned by MRI to refine the diagnosis of the suspected renal anomalies. The pregnancy outcome was examined externally and by postnatal ultrasonography...
2013: Journal of the Turkish German Gynecological Association
Lea Tuzovic, Kwame Anyane-Yeboa, Ashley Mills, Kenneth Glassberg, Russell Miller
OBJECTIVE: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS: A PubMed search was performed using the terms 'MMIHS', 'MMIH' and 'prenatal diagnosis'. RESULTS: A total of 50 cases were analyzed. Prenatal diagnosis was achieved in 26% of cases. In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling. Fetal megacystis with or without hydroureteronephrosis was the most common initial ultrasonographic finding (88%)...
2014: Fetal Diagnosis and Therapy
Tiran Dias, Shanthi Sairam, Shanya Kumarasiri
Development of the urogenital system in humans is a complex process; consequently, renal anomalies are among the most common congenital anomalies. The fetal urinary tract can be visualised ultrasonically from 11 weeks onwards, allowing recognition of megacystis at 11-14 weeks, which warrants comprehensive risk assessment of possible underlying chromosomal aneuploidy or obstructive uropathy. A mid-trimester anomaly scan enables detection of most renal anomalies with higher sensitivity. Bilateral renal agenesis can be confirmed ultrasonically, with empty renal fossae and absent bladder filling, along with severe oligohydramnios or anhydramnios...
April 2014: Best Practice & Research. Clinical Obstetrics & Gynaecology
Ana Beatriz Godinho, Carla Nunes, Marta Janeiro, Rui Carvalho, Maria Antonieta Melo, Luís Mendes da Graça
Ureteroceles are cystic dilations of the intravesical submucosal ureter. Most cases are associated with complete ureteral and renal duplication, and association with ureterohydronephrosis is frequent. The authors describe the 4 cases of fetal ureterocele diagnosed from March 2008 to March 2012. Mean gestational age at diagnosis was 23 weeks (16-34 weeks). One of 4 cases progressed to severe hydronephrosis with megacystis and was referred to a Fetal Medicine Center for fetoscopy and laser ureterocelotomy. The remaining 3 cases did not need fetal therapy...
2013: Fetal Diagnosis and Therapy
Marie Bornes, Emmanuel Spaggiari, Thomas Schmitz, Sophie Dreux, Isabelle Czerkiewicz, Anne-Lise Delezoide, Alaa El-Ghoneimi, Jean-François Oury, Françoise Muller
OBJECTIVE: To investigate the gestational age-specific outcomes and the different etiologies of megacystis diagnosed at screening ultrasound. METHODS: A retrospective single-center study was conducted between 1989 and 2009. We identified all consecutive cases of megacystis prenatally diagnosed during routine ultrasound screening. Outcome, final diagnosis, and renal function were recorded. RESULTS: Eighty-four patients were included. An isolated lower urinary tract obstruction was observed in 38/84 (45...
December 2013: Prenatal Diagnosis
Adrian S Woolf, Helen M Stuart, Neil A Roberts, Edward A McKenzie, Emma N Hilton, William G Newman
The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace upon smiling, laughing and crying. It can present as fetal megacystis. Postnatal features include urinary incontinence and incomplete bladder emptying due to simultaneous detrusor muscle and bladder outlet contractions. Vesicoureteric reflux is often present, and the condition can be complicated by urosepsis and end-stage renal disease. The syndrome has long been postulated to have neural basis, and it can be familial when it is inherited in an autosomal recessive manner...
April 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Mathieu Lefere, Inga Sandaite, An Hindryckx, Roland Devlieger, Luc De Catte, Philippe Moerman, Filip Claus
In this manuscript we report 3 cases of severe lower urinary tract obstruction diagnosed before 20 weeks of pregnancy. All cases had a very similar prenatal presentation with a megacystis, bilateral hydro-ureteronephrosis and increased echogenicity of the kidneys. High-resolution postmortem magnetic resonance imaging (MRI), following termination of pregnancy, enabled accurate investigation of the underlying cause of the urinary tract obstruction, by depicting the presence of an urethral valve, urethral atresia and cloacal dysgenesis...
2013: Fetal Diagnosis and Therapy
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