Role of ultrasound scan in prenatal diagnosis of cloacal exstrophy

Abstract

Abstract 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.

Keywords

• bladder exstrophy
• congenital abnormalities
• omphalocele exstrophy imperforated anus
• prenatal diagnosis