Posterior Urethral Valves: Inaccuracy of Prenatal Diagnosis

Abbott, Jodi; Levine, Deborah; Wapner, Ronald J.

doi:10.1159/000020834

Cited by 66 publications

(38 citation statements)

References 19 publications

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“…Prenatal diagnosis of fetal megacystis represents a diagnostic challenge [30,31]. In the first trimester, the longitudinal bladder diameter (>7 mm) appears to be a useful sonographic marker for fetal aneuploidy [32].…”

Section: Discussionmentioning

confidence: 99%

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

et al. 2015

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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 γ-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents. Two additional de novo missense variants (p.Arg257Cys and p.Arg178His) in ACTG2 were identified in 2 additional MMHIS patients. All of our patients had evidence of fetal megacystis and a normal or slightly increased amniotic fluid volume. Additional findings included bilateral renal hydronephrosis, an enlarged fetal stomach, and transient dilated bowel loops. ACTG2 immunostaining of the intestinal tissue showed an altered muscularis propria, a markedly thinned longitudinal muscle layer, and a reduced amount and abnormal distribution of ACTG2. Conclusion: Our study demonstrates that de novo mutations in ACTG2 are a cause of fetal megacystis in MMIHS and that gonadal mosaicism may be present in a subset of cases. These findings have implications for the counseling of families with a diagnosis of fetal megacystis with a preserved amniotic fluid volume and associated gastrointestinal findings.

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Section: Discussionmentioning

confidence: 99%

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

et al. 2015

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“…The link between very enlarged fetal bladder, proximal urethral dilatation and olygoanhydramnios is highly predictive of LUTO [2,3]. Posterior urethral valves (PUV) accounts for at least 70-80%, and the rest is due to urethral atresia or stenosis [4,5]. However, if the diagnosis is made in the first trimester of pregnancy, the association with urethral atresia or stenosis is as high as half of the LUTO cases [1].…”

Section: Introductionmentioning

confidence: 99%

Laser Ablation of Posterior Urethral Valves by Fetal Cystoscopy

et al. 2015

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Objective: To report the results of fetal cystoscopic laser ablation of posterior urethral valves (PUV) in a consecutive series in two referral centers. Methods: Twenty pregnant women with a presumptive isolated PUV were treated with fetal cystoscopy under local anesthesia. Identification and fulguration of the PUV by one or several firing-contacts with diode laser were attempted. Perinatal and long-term outcomes were prospectively recorded. Results: The median gestational age at procedure was 18.1 weeks (range 15.0-25.6), and median operation time was 24 min (range 15-40). Access to the urethra was achieved in 19/20 (95%) cases, and postoperative, normalization of bladder size and amniotic fluid was observed in 16/20 (80%). Overall, there were 9 (45%) terminations of pregnancy and 11 women (55%) delivered a liveborn baby at a mean gestational age of 37.3 (29.1-40.2) weeks. No infants developed pulmonary hypoplasia and all were alive at 15-110 months. Eight (40% of all fetuses, 72.7% of newborns) had normal renal function and 3 (27.3%) had renal failure awaiting renal transplantation. Conclusion: Fetoscopic laser ablation for PUV can achieve bladder decompression and amniotic fluid normalization with a single procedure in selected cases with anyhydramnios. There is still a significant risk of progression to renal failure pre or postnatally.

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“…Posterior urethral valves are tissue folds of the posterior urethra that impede urinary outflow. They are almost exclusively found in males and are the most common cause of congenital urethral obstruction [3]. Prognosis is generally better but highly variable and depends on the severity of obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…The postnatal course of severe LUTO is usually characterized by an impaired renal function and pulmonary hypoplasia, resulting in a high overall mortality rate [1]. Prenatal characterization of the exact underlying cause of LUTO is often difficult, in particular for cases presenting in the first half of the pregnancy [2,3]. Nevertheless, the exact cause of the obstruction influences the individual prognosis and is important to counsel parents [2].…”

Section: Introductionmentioning

confidence: 99%

Postmortem High-Resolution Fetal Magnetic Resonance Imaging in Three Cases of Lower Urinary Tract Obstruction

Lefere

Sandaite²,

Hindryckx³

et al. 2013

Fetal Diagn Ther

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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. Postmortem fetal MRI provides high anatomical detail and is very suitable to investigate congenital anomalies of the lower urinary tract. In case (timely or consented) conventional autopsy is not possible, MRI is an excellent alternative.

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Posterior Urethral Valves: Inaccuracy of Prenatal Diagnosis

Cited by 66 publications

References 19 publications

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Laser Ablation of Posterior Urethral Valves by Fetal Cystoscopy

Postmortem High-Resolution Fetal Magnetic Resonance Imaging in Three Cases of Lower Urinary Tract Obstruction

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Posterior Urethral Valves: Inaccuracy of Prenatal Diagnosis

Cited by 66 publications

References 19 publications

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding &#947;-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding &#947;-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Laser Ablation of Posterior Urethral Valves by Fetal Cystoscopy

Postmortem High-Resolution Fetal Magnetic Resonance Imaging in Three Cases of Lower Urinary Tract Obstruction

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Product

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New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)