Ascites, hydrocolpos, hydrometrocolpos with normal amniotic fluid in a fetus with partial urorectal septum malformation sequence

Lee, Shawn; Carlan, S. J.; Locksmith, Greg; Pérez, José Ma Botella

doi:10.1002/jcu.22005

Cited by 7 publications

(2 citation statements)

References 17 publications

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“…Some of this fluid was also likely released intra-abdominally via the Mullerian structures leading to fetal ascites. Warne et al [2] reported one case of partial/persistent cloacal malformation with fetal ascites and normal AFI, but they did not demonstrate initial anhydramnios and progression to normal amniotic fluid level [11].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation

et al. 2023

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Introduction: Cloacal dysgenesis occurs from failure of embryological division of urogenital sinus and hindgut, leading to a single common perineal opening for genitourinary and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in patients with urogenital abnormalities. Case presentation: A 21-year-old woman was referred after her 20-week ultrasound demonstrated anhydramnios and concern for dilated fetal bowel. Fetal MRI confirmed anhydramnios and a dilated fetal colon, in addition to hydronephrosis and a pelvic cyst. Repeat ultrasound at 27 weeks showed unexpected complete resolution of her anhydramnios but new fetal ascites. The newborn girl was postnatally diagnosed with a cloacal malformation and an unusual near complete fusion of her labia. She underwent proximal sigmoid colostomy and a tube vaginostomy at birth followed by cloacal reconstruction at 1.5 years old. Conclusion: In female fetus with a pelvic cyst, one should have a high index of suspicion for cloacal anomaly and consider the possibility of urinary obstruction leading to alteration in amniotic fluid.

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Section: Discussionmentioning

confidence: 99%

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation

et al. 2023

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“…Escobar et al [ used the name, urorectal septum malformation sequence (URSMS), to explain a rare, often lethal condition due to abnormal partitioning of the cloaca. Many examples are now published, including individuals with partial forms and a child treated in utero by vesico‐amniotic shunting [Wheeler et al, ; Wheeler and Weaver, ; Lubusky et al, ; Kanamori et al, ; Lee et al, ].…”

Section: Introductionmentioning

confidence: 99%

A tortuous proximal urethra in urorectal septum malformation sequence?

Lin

Lugo

Tran

et al. 2014

American J of Med Genetics Pt A

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We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence.

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Female perineal diseases: spectrum of imaging findings

et al. 2015

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The female perineum, which is divided into the anterior urogenital triangle and the posterior anal triangle, is a surface structure often overlooked. Female perineal diseases may present with nonspecific clinical signs due to its close anatomical relationship between the different compartments. Diagnosis of the origin of a perineal disorder may also be a difficult problem encountered in pelvi-perineal imaging. Therefore, a precise knowledge of the female perineal anatomy and the associated disease processes is essential to radiologists, pathologists, and surgeons alike who are involved in the evaluation of the patient who presents with a perineal mass. Cross-sectional imaging plays a crucial role for proper management. Due to the robust contrast resolution of MR, MR imaging is the modality of choice for evaluation of the extent of a complex perineal lesion, its relationship to the adjacent structures. It has a greater sensitivity and specificity for the diagnosis than the other non-invasive imaging techniques and is helpful in guidance for surgical planning. The purpose of this article is to highlight the spectrum of imaging findings of female perineal diseases.

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Ascites, hydrocolpos, hydrometrocolpos with normal amniotic fluid in a fetus with partial urorectal septum malformation sequence

Cited by 7 publications

References 17 publications

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation

A tortuous proximal urethra in urorectal septum malformation sequence?

Female perineal diseases: spectrum of imaging findings

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