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Final ID: Poster #: CR-007

Prenatal Diagnosis of Closed Cloacal Exstrophy Variant

Purpose or Case Report: To report the prenatal ultrasound (US) and magnetic resonance imaging (MRI) findings in a prenatally diagnosed case of closed (i.e. skin-covered) cloacal exstrophy.
Methods & Materials:
Results: A 40-year-old female, G7P6006, was referred for fetal scoliosis and possible patent urachus. Non-invasive prenatal testing was low risk for aneuploidy and maternal serum alpha fetoprotein was not elevated. Amniocentesis and chorionic villus sampling were declined. Outside second trimester screening ultrasound at 19 weeks 3 days gestation was notable for angulation of the lower thoracic spine, and an outside follow-up ultrasound at 26 weeks 0 days was remarkable for partial herniation of the fetal bladder dome into the umbilical cord and suspected patent urachus. The patient was referred to our center for further evaluation. High-resolution ultrasound performed at 30 week 2 days demonstrated findings suspicious for closed cloacal exstrophy, including an identifiable anechoic fluid-filled urinary bladder protruding beyond the expected abdominal wall contour inferior to a low abdominal cord insertion, abnormal genitalia, multiple spinal segmentation anomalies, low conus medullaris at L4 and anteriorly displaced anus. No urinary tract dilation was present and the amniotic fluid was normal. Fetal MRI performed at 32 weeks 1 day confirmed the US findings and suspicion for a closed cloacal exstrophy. In addition, the orientation of the kidneys was noted to be abnormal with close approximation of the upper poles. Scheduled repeat cesarean section was performed at 39 weeks without complication. On physical examination, a large skin-covered infraumbilical defect, ambiguous genitalia, and imperforate, anteriorly displaced anus were noted. Examination under anesthesia and cystovaginoscopy demonstrated a short urethra, large bladder extending into the infraumbilical wall defect, septated vagina with two complete cervices and colonic fistula entering into the base of a vaginal septum. Postnatal imaging confirmed the presence of multiple thoracic segmentation anomalies and a low conus. The infant underwent divided transverse colostomy on day of life 2 and is undergoing urologic and orthopedic management.
Conclusions: Closed exstrophy variants are exceedingly rare. Although prenatal diagnosis can be challenging, this entity should be considered in the setting of an identifiable bladder with infraumbilical abdominal wall abnormality and additional findings associated with the exstrophy complexes.
  • Oliver, Edward  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Gitman, Olga  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Gebb, Juliana  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Weiss, Dana  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Canning, Douglas  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Hedrick, Holly  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Howell, Lori  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
  • Coleman, Beverly  ( Children's Hospital of Philadelphia , Philadelphia , Pennsylvania , United States )
Session Info:

Posters - Case Report

Fetal Imaging / Neonatal

SPR Posters - Case Reports

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Kaposiform Hemangioendotheliomas – Expanding the Differential for Prenatal Cervical Masses

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Contrast-Enhanced Brain Ultrasound Perfusion Parameters in Congenital Diaphragmatic Hernia in the EXTra-uterine Environment for Neonatal Development

Didier Ryne, Martin-saavedra Juan, Sridharan Anush, Larson Abby, Coons Barbara, Coleman Beverly, Davey Marcus, Hedrick Holly, Flake Alan

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