Prenatal diagnosis of cloacal malformations

Bischoff, Andréa; Levitt, Marc A.; Lim, Foong Yen; Guimaraes, Carolina V.; Peña, Alberto

doi:10.1007/s00383-010-2685-3

Cited by 61 publications

(57 citation statements)

References 41 publications

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“…Recognition of the prenatal imaging findings may substantially affect prenatal and immediate neonatal care, thereby improving outcomes. 2,3 Normally present in the 4-to 5-week embryo, the cloaca is a common chamber of the caudal intestinal, urinary, and genital tracts. This structure gives rise to the urogenital sinus anteriorly and anorectum posteriorly.…”

Section: Discussionmentioning

confidence: 99%

“…The evolution of findings over time is helpful because the findings may be subtle or normal on the standard second-trimester anatomic survey ( Figure 2). 2,3 Variability of perineal outlet obstruction is such that hydrocolpos is only present in 30% to 50% of neonates with cloaca. 13,14 Therefore, at least half of fetal cases will not have a cystic pelvic mass; prenatal diagnosis is much more difficult in these patients, but the combination of renal , which is not always visible on fetal MRI.…”

Section: Discussionmentioning

confidence: 99%

“…2 The results of their studies indicate a need for improved pattern recognition by obstetric imagers.…”

Section: Embryology Anatomy and Prenatal Imaging Featuresmentioning

confidence: 99%

“…Absence of the anal dimple in this setting should raise the index of suspicion for cloacal malformation. 2,15 There is often a vertical linear septation running anterior to posterior through the cystic mass; it is seen with vaginal duplication. Vaginal duplication may more rarely be asymmetric (Figures 4 and 6).…”

Section: A B C Dmentioning

confidence: 99%

“…Spine abnormalities include hemivertebrae. 2,17 A potential pitfall is to mistake hydrocolpos for an obstructed bladder. Cloacal malformation is much more common in female than male fetuses.…”

Section: A B C Dmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…2 The results of their studies indicate a need for improved pattern recognition by obstetric imagers.…”

Section: Embryology Anatomy and Prenatal Imaging Featuresmentioning

confidence: 99%

Section: A B C Dmentioning

confidence: 99%

Section: A B C Dmentioning

confidence: 99%

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Cloacal Malformation

Winkler¹,

Kennedy²,

Woodward³

2012

Journal of Ultrasound in Medicine

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Scientific surgery

2013

British Journal of Surgery

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Transient Distention of Right Posterior Located Sigma, a New Sonographic Sign for the Prenatal Diagnosis of Anal Atresia

Bronshtein¹,

Gover

Beloosesky

et al. 2016

J of Clinical Ultrasound

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We describe a new sonographic sign for the detection of anal atresia in the early midtrimester on transvaginal sonography. In six cases of fetal anal atresia, the finding of a transient, distended, and right-sided sigmoid colon was observed at 13-16 weeks' gestation. Three cases have undergone pregnancy termination due to multiple anomalies. In the other three, the colonic distension resolved by 19 weeks' gestation. In two of these, the finding was isolated, and no other anomalies were detected. In all six cases, anal atresia or cloaca was confirmed on postabortal autopsy or after delivery. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:160-162, 2017.

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Prenatal diagnosis of cloacal malformations

Abstract: We conclude that it is possible to suspect the diagnosis of cloaca, prenatally, more frequently than what currently occurs, looking at the same images but with an increased index of suspicion for cystic abdominal masses and a combination of gastrointestinal and urological abnormalities.

Cited by 61 publications

References 41 publications

Cloacal Malformation

Cloacal Malformation

Scientific surgery

Transient Distention of Right Posterior Located Sigma, a New Sonographic Sign for the Prenatal Diagnosis of Anal Atresia

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