Prenatal diagnosis of rare cloacal exstrophy: A case report

Febriani, .; Aziz, Muhammad Alamsyah

doi:10.1016/j.amsu.2022.104436

Cited by 3 publications

(10 citation statements)

References 10 publications

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“…Although the prenatal diagnosis of cloacal exstrophy is still challenging for obstetricians and gynecologists, the prenatal diagnostic rate has increased over the years with the use of higher‐resolution ultrasound machines and with a better knowledge of abdominal wall defects. Previously published articles have diagnosed cloacal exstrophy based on similar ultrasound findings, nonvisualization of the urinary bladder, large anterior abdominal wall defect on the ventral surface, omphalocele, gastrointestinal anomaly, and an elephant truck sign reported in a few papers 7–10 . In the current case, initially at 23 weeks of gestation, omphalocele was diagnosed, and later at 35 weeks of gestation, the diagnosis was changed to cloacal exstrophy upon finding additional complex anomalies along with the omphalocele.…”

Section: Discussionmentioning

confidence: 54%

“…Previously published articles have diagnosed cloacal exstrophy based on similar ultrasound findings, nonvisualization of the urinary bladder, large anterior abdominal wall defect on the ventral surface, omphalocele, gastrointestinal anomaly, and an elephant truck sign reported in a few papers. [7][8][9][10] In the current case, initially at 23 weeks of gestation, omphalocele was diagnosed, and later at 35 weeks of gestation, the diagnosis was changed to cloacal exstrophy upon finding additional complex anomalies along with the omphalocele. This is because the fetal tissues and organs continue to grow and there are certain fetal anomalies that evolve with the increasing gestational age of the fetus.…”

Section: Discussionmentioning

confidence: 75%

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Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Dorjey¹

2023

Clinical Case Reports

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Cloacal exstrophy is a rare and complex ventral abdominal wall defect. Prenatal diagnosis is possible with the use of detailed ultrasound scanning. Prenatal diagnosis of an anomalous fetus helps the parents and their families in making informed decisions. This write‐up is to report a case of cloacal exstrophy diagnosed during the prenatal period using an ultrasound scan. The pregnant mother presented at 35 weeks of gestation underwent a detailed ultrasound scanning and note the findings; a large defect on the ventral surface of the anterior abdominal wall extending from the umbilicus to the inferior pelvis, with a large mass protruding through the defect, umbilical cord arising from the proximal part of the mass, with another tubular mass protruding from the inferior aspect of the larger mass giving an appearance of “elephant trunk,” absent urinary bladder, absent anal dimple, and scrotum was seen inferior to the mass but failed to appreciate the phallus. Both kidneys were normal, and there was no spinal defect. In addition, pubic bones were widely separated, and there was splaying of the iliac bone. Based on the ultrasound scan findings, a prenatal diagnosis of cloacal exstrophy was made. The pregnant mother and their families were counseled about the anomalous fetus, and they decided to continue the pregnancy. At birth, the abnormalities present in the baby were consistent with the prenatal ultrasound scan findings. On postnatal day 5, the baby underwent a complete primary surgical repair of the defect which comprised of closure of the abdominal wall defect, repair of bladder defect, pelvic osteotomies, and creation of a colostomy. The abnormalities of cloacal exstrophy detected by the ultrasound scan during the prenatal diagnosis period were consistent with the abnormalities detected at birth. This concludes that an ultrasound scan is a reliable tool to diagnose cloacal exstrophy during the prenatal period.

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Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 75%

Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Dorjey¹

2023

Clinical Case Reports

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“…The proximal intestinal opening often proliferates making an overall appearance resembling an elephant trunk [ 5 ]. The distal bowel is a blind pouch and thus babies born have an imperforate anus [ 2 ]. It has been suggested in previous literature that the OEIS complex and exstrophy of the cloaca may be used synonymously [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a syndrome of congenital anomalies involving the gastrointestinal, musculoskeletal, renal, neural, and genitourinary systems [ 1 ]. It is a very rare polymorphic defect associated with epigenetic and genetic causes occuring in early blastogenesis that result in a ventral abdominal wall defect with omphalocele, cloacal/bladder exstrophy, imperforate anus, and a spinal defect [ 2 ]. Spina bifida, symphysis pubis diastasis, and limb abnormalities may also be observed [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

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Understanding and managing a case of the omphalocele-exstrophy-imperforate anus-spinal defect complex

Nurani,

Abdalla,

Ayub

2024

Journal of Surgical Case Reports

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The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal, neural, and genitourinary system defects. We present a case report of a neonate with OEIS born by vertex spontaneous delivery to non-consanguineous parents. The major presenting defect was exstrophy of the cecum lying between two exstrophied halves of the bladder, an imperforate anus and spina bifida myelomeningocele. Explorative laparotomy revealed a duplex kidney system, attachment of the terminal ileum and cecum to the exstrophy, and a sausage-like atretic large bowel. Malrotation was also noted. Ladd’s bands were released followed by ileostomy and ureterostomy. Patient was stable post-operatively and in the incubator on room air. OEIS remains a challenging anomaly that requires optimal treatment to facilitate the quality of life. With appropriate surgical intervention, the functional and social treatment goals for this unusual congenital defect can be met.

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Anorectal developmental anomalies

Антонюк,

Пикалюк,

Слободян

et al. 2023

NCBio

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Anorectal malformations include a wide range of conditions that can affect both sexes and involve the distal anus and rectum, as well as the urinary and genital tracts. An imperforate anus is a common birth defect that results from defects or delays in the development of the hindgut. The diagnosis of nonperforation of the anus is usually made shortly after birth through a routine medical examination. Patients have the best chance for a good functional outcome if the disease is diagnosed early and effective anatomic repair is started immediately. Most malformations in girls can only be correctly diagnosed on physical examination. An anus visible in the perineum with a normal vagina and urethra suggests a perineal fistula. A rectovestibular fistula occurs when the opening is in the posterior vestibule and beyond the hymen. If only one opening is visible between the labia, it is very likely a cloaca. Rectovaginal fistulae may initially appear as a non-perforating anus without a fistula (a normal-looking vagina and urethra, but no visible anus). Close examination usually reveals the presence of an opening in the back wall of the vagina or inside the hymenal ring. Radiological evaluation of a newborn with non-perforated anus should include abdominal ultrasound, using it to detect urological abnormalities. Sepsis, aspiration, abdominal distention, colonic perforation, respiratory distress, electrolyte imbalance are complications that can result from delayed diagnostic and therapeutic treatment of anorectal malforations. Accurate preoperative identification of an internal fistula between the distal part of the genitourinary tract is very important for optimal surgical treatment and prevention of possible damage to the genitourinary tract. Staged surgery, the most common approach for treating anorectal malformations, consists of three operations: a colostomy at birth, a definitive operation at 2–3 months of age, and closure of the colostomy at approximately 6 months of age.

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Prenatal diagnosis of rare cloacal exstrophy: A case report

Cited by 3 publications

References 10 publications

Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Understanding and managing a case of the omphalocele-exstrophy-imperforate anus-spinal defect complex

Anorectal developmental anomalies

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