The prenatal diagnosis of cloacal exstrophy

Paul F. Austin*, Yves L. Homsy, John P. Gearhart, Kathy Porter, Claude Guidi, Kevin Madsen, Max Maizels

*Corresponding author for this work

Research output: Contribution to journalArticle

67 Citations (Scopus)

Abstract

Purpose: We assess and clarify diagnostic features for making the prenatal diagnosis of cloacal exstrophy. Materials and Methods: We evaluated 9 patients born with cloacal exstrophy at our institutions (2 prospectively and 7 retrospectively) for diagnostic features on prenatal ultrasound studies. We also thoroughly reviewed the literature on 13 previous prenatally diagnosed cloacal exstrophy cases. Diagnostic criteria were assessed by combining the findings in our patients and those in previous reports. Results: Of the 22 patients with prenatal ultrasound studies and cloacal exstrophy whom we analyzed 1 of our 9 and 2 in the literature had a cloacal membrane that persisted at 22 weeks of gestation. Major ultrasound criteria for diagnosing cloacal exstrophy prenatally are nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), omphalocele and lumbosacral anomalies. Seven less frequent or minor criteria include lower extremity defects, renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus and 1 umbilical artery. Conclusions: We propose major and minor criteria to assist in the prenatal diagnosis of cloacal exstrophy. Despite these major and minor criteria the certainty of establishing a prenatal diagnosis remains challenging. Persistence of the cloacal membrane beyond the first trimester in I patient was an exception to the classic concept of cloacal exstrophy embryogenesis. An accurate prenatal diagnosis requires validation of these criteria by further correlation of prenatal and postnatal observations.

Original languageEnglish (US)
Pages (from-to)1179-1181
Number of pages3
JournalJournal of Urology
Volume160
Issue number3 II
DOIs
StatePublished - Jan 1 1998

Fingerprint

Prenatal Diagnosis
Membranes
Umbilical Hernia
Umbilical Arteries
First Pregnancy Trimester
Hydrocephalus
Ascites
Embryonic Development
Lower Extremity
Urinary Bladder
Thorax
Kidney
Pregnancy

Keywords

  • Abnormalities
  • Bladder
  • Cloaca
  • Prenatal diagnosis
  • Ultrasonography

ASJC Scopus subject areas

  • Urology

Cite this

Austin, P. F., Homsy, Y. L., Gearhart, J. P., Porter, K., Guidi, C., Madsen, K., & Maizels, M. (1998). The prenatal diagnosis of cloacal exstrophy. Journal of Urology, 160(3 II), 1179-1181. https://doi.org/10.1016/S0022-5347(01)62733-2
Austin, Paul F. ; Homsy, Yves L. ; Gearhart, John P. ; Porter, Kathy ; Guidi, Claude ; Madsen, Kevin ; Maizels, Max. / The prenatal diagnosis of cloacal exstrophy. In: Journal of Urology. 1998 ; Vol. 160, No. 3 II. pp. 1179-1181.
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Austin, PF, Homsy, YL, Gearhart, JP, Porter, K, Guidi, C, Madsen, K & Maizels, M 1998, 'The prenatal diagnosis of cloacal exstrophy', Journal of Urology, vol. 160, no. 3 II, pp. 1179-1181. https://doi.org/10.1016/S0022-5347(01)62733-2

The prenatal diagnosis of cloacal exstrophy. / Austin, Paul F.; Homsy, Yves L.; Gearhart, John P.; Porter, Kathy; Guidi, Claude; Madsen, Kevin; Maizels, Max.

In: Journal of Urology, Vol. 160, No. 3 II, 01.01.1998, p. 1179-1181.

Research output: Contribution to journalArticle

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T1 - The prenatal diagnosis of cloacal exstrophy

AU - Austin, Paul F.

AU - Homsy, Yves L.

AU - Gearhart, John P.

AU - Porter, Kathy

AU - Guidi, Claude

AU - Madsen, Kevin

AU - Maizels, Max

PY - 1998/1/1

Y1 - 1998/1/1

N2 - Purpose: We assess and clarify diagnostic features for making the prenatal diagnosis of cloacal exstrophy. Materials and Methods: We evaluated 9 patients born with cloacal exstrophy at our institutions (2 prospectively and 7 retrospectively) for diagnostic features on prenatal ultrasound studies. We also thoroughly reviewed the literature on 13 previous prenatally diagnosed cloacal exstrophy cases. Diagnostic criteria were assessed by combining the findings in our patients and those in previous reports. Results: Of the 22 patients with prenatal ultrasound studies and cloacal exstrophy whom we analyzed 1 of our 9 and 2 in the literature had a cloacal membrane that persisted at 22 weeks of gestation. Major ultrasound criteria for diagnosing cloacal exstrophy prenatally are nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), omphalocele and lumbosacral anomalies. Seven less frequent or minor criteria include lower extremity defects, renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus and 1 umbilical artery. Conclusions: We propose major and minor criteria to assist in the prenatal diagnosis of cloacal exstrophy. Despite these major and minor criteria the certainty of establishing a prenatal diagnosis remains challenging. Persistence of the cloacal membrane beyond the first trimester in I patient was an exception to the classic concept of cloacal exstrophy embryogenesis. An accurate prenatal diagnosis requires validation of these criteria by further correlation of prenatal and postnatal observations.

AB - Purpose: We assess and clarify diagnostic features for making the prenatal diagnosis of cloacal exstrophy. Materials and Methods: We evaluated 9 patients born with cloacal exstrophy at our institutions (2 prospectively and 7 retrospectively) for diagnostic features on prenatal ultrasound studies. We also thoroughly reviewed the literature on 13 previous prenatally diagnosed cloacal exstrophy cases. Diagnostic criteria were assessed by combining the findings in our patients and those in previous reports. Results: Of the 22 patients with prenatal ultrasound studies and cloacal exstrophy whom we analyzed 1 of our 9 and 2 in the literature had a cloacal membrane that persisted at 22 weeks of gestation. Major ultrasound criteria for diagnosing cloacal exstrophy prenatally are nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), omphalocele and lumbosacral anomalies. Seven less frequent or minor criteria include lower extremity defects, renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus and 1 umbilical artery. Conclusions: We propose major and minor criteria to assist in the prenatal diagnosis of cloacal exstrophy. Despite these major and minor criteria the certainty of establishing a prenatal diagnosis remains challenging. Persistence of the cloacal membrane beyond the first trimester in I patient was an exception to the classic concept of cloacal exstrophy embryogenesis. An accurate prenatal diagnosis requires validation of these criteria by further correlation of prenatal and postnatal observations.

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KW - Bladder

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KW - Prenatal diagnosis

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Austin PF, Homsy YL, Gearhart JP, Porter K, Guidi C, Madsen K et al. The prenatal diagnosis of cloacal exstrophy. Journal of Urology. 1998 Jan 1;160(3 II):1179-1181. https://doi.org/10.1016/S0022-5347(01)62733-2