Prenatal diagnosis of cloacal anomalies

Warne, S.A.; Chitty, Lyn S.; Wilcox, Duncan T.

doi:10.1046/j.1464-410x.2002.02556.x

Cited by 110 publications

(42 citation statements)

References 17 publications

(30 reference statements)

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“…Consistent with this hypothesis, Liu and Hutson (2000) showed in an adriamycin-induced rat model of cloacal and urogenital anomalies, similarities to VATER association. Taken together, structures within the fetal pelvis including debris, a poorly visualized fetal bladder, hydronephrosis, and reductions in amniotic fl uid (Warene et al 2002).…”

Section: Discussionmentioning

confidence: 98%

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Mori

Matsubara

Abe

et al. 2007

Tohoku J. Exp. Med.

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The cloaca is a single canal from which the urinary, genital, and intestinal tracts arise around gestational weeks 5-6. Persistent cloaca can result from cystic mass formation within the pelvis, which is commonly association with multiple developmental defects. VATER association, which is a spectrum of anomalies, manifested by vertebral defects, anal atresia, tracheo-esophageal fi stula with esophageal atresia, and renal dysplasia, arises from abnormalities in mesodermal differentiation. Recently, both conditions have been proposed to represent a continuous spectrum of anomalies, but the pathophysiology concerning the continuity of the development and the clinical condition are still unclear. Since renal failure becomes a serious problem after birth, timely infant delivery is essential to avoid loss of renal function. We report a patient, in whom the overlap between these two conditions was identifi ed, and renal function was lost from one kidney. A polycystic mass was found in the fetal abdomen at 26 weeks of gestation. By ultrasonography, we detected a polycystic left kidney, a single umbilical artery, a ventricular septal defect, an esophageal atresia, ascites, an anal atresia, and a cystic mass with debris behind the bladder. The left kidney was non-functioning and the right kidney showed signs of hydronephrosis at 30 weeks of gestation. We measured the size and the blood fl ow of renal artery sequentially, and could deliver the fetus before the function was lost from the right kidney. Our observations will help inform future patients where prompt intervention can help improve renal function and infant health.

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Section: Discussionmentioning

confidence: 98%

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Mori

Matsubara

Abe

et al. 2007

Tohoku J. Exp. Med.

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“…There can be significant variation in prenatal sonographic findings in females as demonstrated by the two cases in our series, one with apparently isolated clitoromegaly (case 4) and the other (case 5) with more typical findings of an intra-abdominal mass with urinary tract anomalies. Sonographic findings in cloacal anomalies, which can include a cystic retrovesical mass (hydrometrocolpos), upper renal tract dilatation, a poorly visualized bladder and oligohydramnios, often evolve as gestation progresses and the diagnosis is often only made after serial scanning (Warne et al, 2002). The diagnosis of a cloacal anomaly remains challenging but is facilitated by the demonstration of abnormal genitalia as in the male fetus in our series with a cloacal anomaly (case 6).…”

Section: Discussionmentioning

confidence: 91%

Fetal genital anomalies: an aid to diagnosis

Pajkrt

Petersen

Chitty³

2008

Prenatal Diagnosis

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Objective To report our experience with the prenatal diagnosis of fetal genital anomalies and suggest a protocol for management.Methods A retrospective review of all the cases with fetal genital anomalies or phenotype and genotype discrepancy identified by prenatal ultrasound.Results Twenty cases with abnormal fetal genitalia and four with a phenotype and genotype discrepancy were diagnosed prenatally. Genital anomalies were rarely found in isolation, most were found in combination with renal or multiple structural anomalies. The etiology of abnormal genitalia was broad and included metabolic, chromosomal and genetic syndromes. ConclusionPrenatal detection of genital anomalies should stimulate a detailed ultrasound examination and determination of genotypic sex. Measurement of 17-OHP and 4 -androstenedione or metabolites of the cholesterol pathway in the amniotic fluid and/or maternal urine may be helpful in making a definitive diagnosis. Identification of genital anomalies in fetuses with renal or multiple abnormalities can aid prenatal diagnosis, thereby facilitating accurate counseling of parents who are then in a better position to make informed choices.

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“…The urinary bladder may or may not be present according to the literature, although it was visualized in 5 of our 6 cases. [18][19][20] The bowel may be normal in caliber, or there may be colonic dilatation due to distal obstruction. Meconium peritonitis without intestinal perforation is associated with cloacal malformation 20,21 and may be visible sonographically as peritoneal calcifications.…”

Section: A B C Dmentioning

confidence: 99%

“…Decompression of urine through the fallopian tubes is also thought to be the cause of ascites. 19,20 Chemical irritation of the fallopian tubes may result in obstruction with ensuing progressive vaginal distension. 20 A normal anal dimple cannot be shown if the anus is ectopic or imperforate.…”

Section: A B C Dmentioning

confidence: 99%

Cloacal Malformation

Winkler¹,

Kennedy²,

Woodward³

2012

Journal of Ultrasound in Medicine

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Embryology, Anatomy, and Prenatal Imaging Featuresloacal malformations constitute a group of severe nonhereditary anorectal malformations. Failure of division of the cloaca or urogenital sinus early in embryogenesis results in either convergence of the genital, urinary, and intestinal contents into a single common channel (cloaca) or the formation of two channels: a common genitourinary channel (urogenital sinus) separate from the hindgut. Although rare, with a quoted incidence of 1 per 20,000 live births, 1 a tertiary referral center may encounter up to 1 or 2 cases per year based on our institutional experience.Recent retrospective reviews by Bischoff et al 2 and Livingston et al 3 found that the prenatal diagnosis of cloacal malformation was suspected in only 6% of their patients with a diagnosis of cloacal malformation at birth, despite the presence of suspicious sonographic findings in as many as 62% of the cases when the prenatal imaging reports were reviewed. 2 The results of their studies indicate a need for improved pattern recognition by obstetric imagers.In this series, we present the prenatal findings in a series of 6 proven cases of cloacal malformation. Characteristic imaging features of our cases in combination with a literature review are described, in addition to pitfalls and important differential considerations. Information on the prognosis and general management is provided for guidance in counseling and referring affected families. Cloacal extrophy is a distinct entity from cloacal malformation and will not be discussed. CASE SERIESCloacal malformation is a rare but important anomaly. Prenatal diagnosis is possible with knowledge of the distinctive imaging features. The purpose of this case series is to illustrate characteristic prenatal sonographic and magnetic resonance imaging features of cloacal malformation using imaging from 6 cases seen at a single academic center to augment published data. The imaging feature common to all cases was a central cystic pelvic mass containing a characteristic fluid-fluid level. Additional anomalies include uterine and vaginal duplication, hydronephrosis, and lumbosacral anomalies. Prenatal magnetic resonance imaging showed the absence of the normal T1-hyperintense meconium-filled rectum in all cases. Prenatal diagnosis may affect immediate neonatal care (eg, immediate drainage of hydrocolpos) with an ultimate improved outcome.

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Prenatal diagnosis of cloacal anomalies

Cited by 110 publications

References 17 publications

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Prenatal Diagnosis of Persistent Cloaca Associated with VATER (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula, and Renal Dysplasia)

Fetal genital anomalies: an aid to diagnosis

Cloacal Malformation

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