The Prenatal Diagnosis of Cloacal Exstrophy

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

doi:10.1016/s0022-5347(01)62733-2

Cited by 84 publications

(23 citation statements)

References 13 publications

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“…These 15 cases and 20 reports in the literature indicate that OEIS complex/EC may be difficult to diagnose prenatally, and that the full extent of abnormalities may not be clear until postnatal exam [Gosden and Brock, 1981; Meizner and Bar‐Ziv, 1985; Kutzner et al, 1988; Girz et al, 1998; Langer et al, 1992; Chen et al, 1997; Lee et al, 1999; Vasudevan et al, 2006]. Several authors have described major criteria for prenatal diagnosis of EC: non‐visualization of the fetal bladder, infra‐umbilical anterior abdominal wall defect, omphalocele, and MMC [Meizner and Bar‐Ziv, 1985; Austin et al, 1998; Noack et al, 2005]. Minor criteria included: lower extremity malformations (clubfeet), renal anomalies, ascites, widened pubic arches, narrow thorax, kyphoscoliosis, hydrocephalus, and single umbilical artery [Girz et al, 1998; Källén et al, 2000; Noack et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Keppler‐Noreuil

Gorton

Foo

et al. 2007

American J of Med Genetics Pt A

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Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex or cloacal exstrophy (EC), describes a rare grouping of more commonly occurring component malformations [Carey et al., 1978]. The etiology is unknown, but likely heterogeneous. While postnatal identification of its associated gastrointestinal, spinal, and genitourinary systems delineates the extent and natural history of OEIS complex, prenatal findings may provide additional information regarding early detection, possible causative factors, and outcome. The purposes of this study were to: (1) present the prenatal ascertainment of OEIS complex in this series of 15 cases identified through several different sources compared to the literature, and (2) discuss the relationship of these prenatal findings to possible abnormal developmental mechanisms causing OEIS complex. These 15 cases indicate that OEIS complex may be difficult to diagnose prenatally, and that the full extent of abnormalities may not be clear until postnatal exam. Confusion with limb-body wall complex (two of our cases) and pentalogy of Cantrell (one of our cases) can occur. Anal/gastrointestinal malformations and genital ambiguity are under-ascertained. Conversely, prenatal defects may resolve postnatally, yet may provide clues for pathogenetic mechanisms. For instance, the finding of nuchal thickening in our three cases (one reported) suggests vascular/hemodynamic compromise early in embryologic development, or intrathoracic compression leading to jugular lymphatic obstruction may play a role. The association of twinning and OEIS complex suggests they may occur as early as blastogenesis. Our three sets of discordant twins also suggest a non-genetic etiology for OEIS complex of uteroplacental insufficiency. This study also indicates that OEIS complex may be more common than previously thought.

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Section: Discussionmentioning

confidence: 99%

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Keppler‐Noreuil

Gorton

Foo

et al. 2007

American J of Med Genetics Pt A

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“…6 In 1998, Austin et al proposed a set of diagnostic criteria for US, based heavily on the initial observations of Carey et al and moving OEIS from a postnatal to a prenatal diagnosis. 10 They suggested the following major criteria: nonvisualization of the bladder, a large midline infraumbilical anterior wall defect or cystic anterior wall structure (persistent cloacal membrane), abdominoschisis, and lumbosacral anomalies, and minor criteria: lower extremity defects, renal anomalies, ascites, widened pubic arches, a narrow thorax, hydrocephalus, and a single umbilical artery. 10 In 1999, Hamada et al suggested the midline prolapsed ileum visualized on US between the hemibladder masses, termed the "elephant trunk sign," should be added to Austin et al's sonographic diagnostic criteria.…”

Section: Discussionmentioning

confidence: 99%

“…Similarly, multiple retrospective studies that reanalyzed prenatal imaging found high discrepancy rates between the clinical imaging report and the diagnosis reached during the study. 7,[10][11][12][13] This apparent lack of consensus raises questions regarding the benefit of too rigid and adherence to the traditional diagnostic categories within the range of VBWD. Further, a review of recent cases encountered within our own prenatal diagnostic clinic confirms the disparate reports in the literature, and the theme that many patients present with overlapping features of different VBWD.…”

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confidence: 99%

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Coleman

Marine

Weida

et al. 2018

AJP Rep

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Objective To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience. Study Design A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb–body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period. Results Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. POC is defects of the supraumbilical abdomen, sternum, diaphragm, pericardium, and heart. LBWC is two of the following: exencephaly or enencephaly with facial clefts, thoracoschisis or abdominoschisis, and limb defects. Twenty-four cases of VBWD on MRI over a 24-month period were identified with seven cases involving defects of additional organ systems. Six of these seven cases demonstrated findings from two or more of the traditional diagnoses POC, OEIS, and LBWC making diagnosis and counseling difficult. Conclusion There is a lack of consensus on useful diagnostic criteria within the published literature which is reflected in our own diagnostic experience and poses a challenge for accurate prenatal counseling.

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“…The diagnosis is suspected if the bladder cannot be visualized in the presence of normal kidneys. A semisolid mass protruding from the lower abdominal wall, low insertion of the umbilical cord, abnormal widening of the iliac crests, omphalocele and lumbosacral anomalies may support the diagnosis …”

Section: Discussionmentioning

confidence: 99%

Successful pregnancy outcome in a woman with untreated ectopia vesicae: A case report and review of literature

Mandal

Chaudhuri

Manna

et al. 2012

J of Obstet and Gynaecol

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We report the case of a pregnancy in a 25-year-old woman who was born with ectopia vesicae and split pelvis, but had not undergone any reconstructive or diversion surgery in childhood. Her antenatal period was uneventful and the infant was delivered by cesarean section at term due to breech presentation. The baby had no congenital anomalies. The postoperative period was uneventful and they were discharged from the hospital in a good general condition.

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The Prenatal Diagnosis of Cloacal Exstrophy

Cited by 84 publications

References 13 publications

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Successful pregnancy outcome in a woman with untreated ectopia vesicae: A case report and review of literature

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