The Prenatal Ultrasonographic Diag nosis of Cloaca! Exstrophy Douglas S. Richards; MD, Max R. Langham, Jr, MD, Samuel M. Mahaffey, MD
Exstrophy of the bladder is a rare, serious malformation, which occurs in approximately 1 in every 250,000 births. 1 Although this condition is well described in the pediatric surgical literature, to our knowledge there has been only one previous case in which this condition was diagnosed with prenatal ultrasonography. 2 In that case, the diagnosis was made immediately prior to the vaginal delivery of an infant who died, and the prenatal diagnosis did not influence management. We present the first case in which cloaca) exstrophy was diagnosed in the second trimester, in time for thorough counseling of the parents. In this case a decision was made to continue the pregnancy, and the patient was delivered of a viable infant. This report reviews the principles of prenatal diagnosis and managemen t of cloaca) exstrow phy, highlighting the complicated neonatal course ex· pected in newborn infants with this condition. Obstetricians should disclose the genetic fetal sex cautiously, as optimal managemen t usually dictates that 46,XY individuals be reared as females.
Case Report The patient is a 27 year old women, para 1001, who was referred at 16 weeks' gestation because of an ultrasonogram obtained at another facility suggesting an anomaly. Ultrasonographic examination showed a large abdominal wall defect, with a sac enclosing extruded liver and bowel. The umbilical cord inserted into the sac. The right kidney appeared normal; however, the left kidney and bladder were not seen. The amniotic fluid volume was moderately deReceived November 5, 1991, from the Department o( Obstetrics and Gynecology (D.S.R.), the Division o( Pediatric Surgery (M.R.L.), and the Division o( Pediatric Surgery (S.M.M.), University of Aorida College of Medicine, Gainesville, Florida. Revised manuscript accepted for publication March 5, 1992. Addres! correspondence and reprint requests to Douglas s. Richards, MD, Department of Obstetrics and Gynecology, Box 100296, University of Florida College of Medicine, Gainesville, FL 32610.
creased. No abnormalities of the spine or lower extremities were seen. At that time the fetus was believed to have an omphalocele with unilateral renal agenesis. The patient declined amniocentesis and did not want pregnancy termination on the basis of the diagnosis. Two weeks later a repeat ultrasound showed that the abdominal wall defect encompassed the entire lower abdominal wall down to the pelvis, and the omphalocele sac extended down between the fetal legs. Although the contours of the fetal perineum were not visible, cloaca! exstrophy was diagnosed on the basis of the continued absence of a visible bladder and the extent of the abdominal defect. After extensive counseling regarding the serious lifelong problems associated with cloaca! exstrophy, the patient and her husband elected to c.o ntinue the pregnancy. She agreed to an amniocentesis, which revealed a 46,XY karyotype. Through the remainder of the pregnancy, the amniotic fluid volume continued to be moderately decreased, and the other findings remained essentially unchanged (Figs. 1 and 2). The bladder and left kidney were never visualized, al· though a small cyst developed in the left renal fossa. At 34 weeks' gestation the patient went into premature labor which did not respond to treatment with intravenous magnesium sulfate and ritodrine. A cesarean section was performed to deliver a 2,040 g infant with Apgar scores of 9 and 9. The anomaly's appearance was that of classic cloaca! exstrophy (Fig. 3). The infant had a large omphalocele, a typical bladder exstrophy, and an "elephant trunk" ilea! prolapse with two appendiceal orifices lateral to the prolapse. The phallus was small and bifid, and it overlay the ends of the pubis, which was dysraphic. The anus was imperforate. Neurologically the child was normal. The cardiac examination (including echocardiogram) also was normal. A primary repair was undertaken on the first day of life. This included a bilateral orchiectomy (the testicles were intraabdominal in location), approximation of the pubic ramus without osteotomy, tubularization of the colonic plate with left upper quadrant colostomy and m"ucous fistula, and closure of the bladder exstrophy. The abdominal wall was closed with a synthetic patch, which was partially covered by skin flaps. This patch was removed 4 days later and closure completed with myocutaneous rectus flaps and a skin closure.
© 1992 by the American Institute of Ultrasound in Medicine• J Ultrasound Med 11:507-510, 1992 • 0278-4297/92/$3.50
508
PRENATAL ULTRASONOGRAPHY DIAGNOSIS
J Ultrasound Med 11:507- 510,
1992
The legs were kept bound together for the following 2 weeks. A fistula from the tubularized colon closed spontaneously. The pubis separated and in the third week of life bladder exstrophy recurred. A subsequent attempt at closure without closing the pelvis also failed. The child is now 4 months old and is doing well at home. We plan pelvic closure with repair of the exstrophy in the near future.
Discussion
Figure 1 Sagittal view of the fetal abdomen and lower chest at 25 weeks' gestation. The anterior chest wall (AC), spine (Sp), stomach (St), and umbiUcal vein (uv) are marked. The liver·containing omphalocele sac is demarcated with arrows. Note how the omphalocele encompasses the entire anterior lower abdominal wall.
Figure 2 Transverse view through the fetal pelvis. The sacrum (S) and buttocks (B) are to the right. The iliac wings are marked with arrows. Note the absence of a visible bladder within the pelvis (P) and the large omphalocele (0), which extends down to the level of the pelvis. The umbilical vein (U) is seen as it enters the omphalocele on the left.
Cloacal exstrophy consists of a severe disruption of the urogenital tract. In the classic defect, there is a central exstrophic bowel field flanked by two hemibladders. Each of the hemibladders has a ureteral orifice. The bowel field usually has three or four orifices. The most anterior is the terminal ileum, which may be prolapsed, resulting in an "elephant trunk" appearance. The most distal orifice leads to a short, blind-ending distal colon segment. One or two appendiceal orifices may be present in the exstrophied bowel field as well. The anus is imperforate. Phallic structures are divided and widely separated or absent. A wide variety of associated malformations may be found.M In almost all cases an omphalocele is present. Between 40 and 903 of infants have vertebral anomalies, and 30 to 703 have a myelomeningocele. Upper urinary tract malformations are extremely common, most often consisting of unilateral or bilateral renal agenesis (in to to 353 of infants) and crossed-fused ectopia (10 to 603 ). Lower extremity malformations, consisting of clubfoot or other deformities of the long bones, are present in 20 to 453 of infants. Other gastrointestinal malformations, such as malrotation, duplications, or anatomically short small bowel, are present in about 503 of cases. Many affected infants have a single umbilical artery. Cloaca] malformations are caused by abnormal embryogenesis and not arrested development. Several theories have been proposed to account for the clinical findings. These have been reviewed by Ziegler and colleagues. 7 Prior to 1960, there were no reported surviving infants with cloaca] exstrophy. 1 With improved surgical management and supportive care, survival rates have increased to 70 to 903 in recent decades.3• 5• 6 Multiple surgical procedures are required and are performed in stages. During stage one, the omphalocele is excised, the bowel is separated from the hemibladders, the exstrophic ileocecal region is closed in continuity, and a short colostomy is created from the end of the distal colon segment. 3 Emphasis is placed on preserving bowel length, avoiding ileostomy because of problems with short bowel syndrome. The hemibladders are then
J Ultrasound Med 11:507-510, 1992
RICHARDS ET AL
509
Figure 3 The components of a classic cloaca! exstrophy are well demonstrated in this pho· tograph of our patient shortly after birth: the bowel plate (Bo); the umbilical cord inserting into the omphalocele sac (Om); the ilea! prolapse (IP) ("elephant trunk'); the exstrophied hemibladders (Bl) separated by the lower end of the omphalocele and the upper end of the bowel plate; the bifid phallus (Ph) overlying the ends of the pubis; the bifid labial scrotal folds (La) on either side of the exstrophic bowel plate; and the appendiceal orifices (Ap) in the lower portion of the exstrophied bowel plate. Not seen is the imperforate anus. The ·elephant trunk' prolapse and intestinal plate can be confused with a male phallus and scrotum, sometimes leading to inappropriate sex assignment in the delivery room.
approximated in the midline, creating a single exstrophied bladder. In a subsequent procedure, an attempt is made to close the exstrophied bladder and bring together the pubic symphysis. After a variety of bladder reconstruction and urethral and bladder neck continence procedures, urinary continence may be possible, although clean intermittent catheterization is required. 8 Virtually all genetic males have severe abnormalities of the genitalia, including diminutive and separated corporal bodies, bifid scrotum, and un· descended testes. 6 Genetic females also have a variety of malformations, including bifid uterus, double vagina, and exstrophied vagina. 6 There is only one prior report of the prenatal ultrasonographic diagnosis of cloaca! exstrophy. 2 That case was diagnosed immediately prior to the delivery at 31 weeks' gestation of an infant who died shortly after birth. Ultrasonography showed a very large omphalocele, a Iumbosacral meningomyelocele, bilateral clubfeet, polyhydramnios, ascites, and a narrow chest. On the basis of these findings, the authors diagnosed cloaca! exstrophy. They state that •the bladder was clearly visible' by ultrasonography. It is not clear whether they saw the exstrophied hemibladders or a pelvic cyst that was mistakenly thought to be a fluidfilled bladder. Although the authors state that ascites and a small chest are characteristically present with cloaca) exstrophy, there has been no reference to these findings in neonatal series. 3 - 6 Since omphalocele and exstrophy are constant in cloaca! malformations, the hallmarks of the prenatal diagnosis should be the presence of a large omphalocele with failure to visualize a normal bladder. Although other anomalies associated with cloaca! exstrophy are commonly found, they are not always present, and their absence cannot be used to exclude the diag-
nosis. We could not specifically see the hemibladders or other abnormal perinea! structures as the omphalocele sac covered this area. Our case demonstrates that the inability to visualize clearly these abnormalities does not preclude an accurate diagnosis. A careful search should be made for associated malformations, not only to help establish the diagnosis, but also to aid in counseling the patient. Generally it should be possible to distinguish cloaca! exstrophy from other abnormalities of the lower abdominal wall. With ompha!ocele and gastroschisis the bladder is seen, whereas it is absent in bladder exstrophy and cloaca) exstrophy. In bladder exstrophy the infant has a low umbilicus and anteriorly placed geni· talia. 9 Although wide separation of the pubis symphysis and the rectus muscles is seen with bladder exstrophy, omphalocele, which is a constant feature of cloacal exstrophy, is absent. Those providing prenatal counseling should be aware that genetic males with cloacal exstrophy usually are reared as females; this recommendation is unanimous because of the near impossibility of creating functioning male genitalia. 5• 6· 10 In our case, we did not consider this issue until after the karyotype had been divulged to the parents. They adjusted well after an explanation that the phenotypic sex, not the karyotypic sex, determined the sex of rearing.
REFERENCES J Urol 92:490, 1964 2. Meizner I, Bar·Ziv j: Prenatal ultrasonic diagnosis of cloaca! exstrophy. Am J Obstet Gynecol 153:802, 1985 1. Soper RT, Kilger K: Vesico·intestinal fissure.
510
PRENATAL ULTRASONOGRAPHY DIAGNOSIS
3. Hurwitz RS, Manzoni GA, Ransley PG, et al: Cloaca) exstrophy: A report of 34 cases. J Urol 138.:1060, 1987 4, Meglin A], Balotin RJ, Jelinek JS, et al: Cloaca) exstrophy; Radiologic findings in 13 patients. AJR 155:1267, 1990 5. Stolar CJ, Randolph JG, Flanigan LP: Cloaca) exstrophy: Individualized management through a staged surgical approach. J Pediatr Surg 25:505, 1990 6.. Howell C, Caldamone A, Snyder H, et al: Optimal management of cloaca! exstrophy. J Pediatr Surg 18:365, 1983 7. Ziegler MM, Duckett JW, Howard CG: Cloaca) exstrophy.
J Ultrasound Med 11:507- 510, 1992
111 Welch Kl (ed): Pediatric Surgery. Chicago, Year Book Medical Publishers, 1986, p 764 8. Mitchell ME, Brito CG, Rink RC: Cloaca! exstrophy: Reconstruction for urinary continence. J Urol 144:554, 1990 9. Romero R, Pilu G, Jeanty P, et al: Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT, Appleton & Lange, 1988, p 228 1O. Husmann DA, Mc Lorie GA, Churchill BM: Phallic reconstruction in cloaca! exstrophy. J Urol 142:563, 1989
Exstrophy of the bladder is a rare, serious malformation, which occurs in approximately 1 in every 250,000 births. 1 Although this condition is well described in the pediatric surgical literature, to our knowledge there has been only one previous case in which this condition was diagnosed with prenatal ultrasonography. 2 In that case, the diagnosis was made immediately prior to the vaginal delivery of an infant who died, and the prenatal diagnosis did not influence management. We present the first case in which cloaca) exstrophy was diagnosed in the second trimester, in time for thorough counseling of the parents. In this case a decision was made to continue the pregnancy, and the patient was delivered of a viable infant. This report reviews the principles of prenatal diagnosis and managemen t of cloaca) exstrow phy, highlighting the complicated neonatal course ex· pected in newborn infants with this condition. Obstetricians should disclose the genetic fetal sex cautiously, as optimal managemen t usually dictates that 46,XY individuals be reared as females.
Case Report The patient is a 27 year old women, para 1001, who was referred at 16 weeks' gestation because of an ultrasonogram obtained at another facility suggesting an anomaly. Ultrasonographic examination showed a large abdominal wall defect, with a sac enclosing extruded liver and bowel. The umbilical cord inserted into the sac. The right kidney appeared normal; however, the left kidney and bladder were not seen. The amniotic fluid volume was moderately deReceived November 5, 1991, from the Department o( Obstetrics and Gynecology (D.S.R.), the Division o( Pediatric Surgery (M.R.L.), and the Division o( Pediatric Surgery (S.M.M.), University of Aorida College of Medicine, Gainesville, Florida. Revised manuscript accepted for publication March 5, 1992. Addres! correspondence and reprint requests to Douglas s. Richards, MD, Department of Obstetrics and Gynecology, Box 100296, University of Florida College of Medicine, Gainesville, FL 32610.
creased. No abnormalities of the spine or lower extremities were seen. At that time the fetus was believed to have an omphalocele with unilateral renal agenesis. The patient declined amniocentesis and did not want pregnancy termination on the basis of the diagnosis. Two weeks later a repeat ultrasound showed that the abdominal wall defect encompassed the entire lower abdominal wall down to the pelvis, and the omphalocele sac extended down between the fetal legs. Although the contours of the fetal perineum were not visible, cloaca! exstrophy was diagnosed on the basis of the continued absence of a visible bladder and the extent of the abdominal defect. After extensive counseling regarding the serious lifelong problems associated with cloaca! exstrophy, the patient and her husband elected to c.o ntinue the pregnancy. She agreed to an amniocentesis, which revealed a 46,XY karyotype. Through the remainder of the pregnancy, the amniotic fluid volume continued to be moderately decreased, and the other findings remained essentially unchanged (Figs. 1 and 2). The bladder and left kidney were never visualized, al· though a small cyst developed in the left renal fossa. At 34 weeks' gestation the patient went into premature labor which did not respond to treatment with intravenous magnesium sulfate and ritodrine. A cesarean section was performed to deliver a 2,040 g infant with Apgar scores of 9 and 9. The anomaly's appearance was that of classic cloaca! exstrophy (Fig. 3). The infant had a large omphalocele, a typical bladder exstrophy, and an "elephant trunk" ilea! prolapse with two appendiceal orifices lateral to the prolapse. The phallus was small and bifid, and it overlay the ends of the pubis, which was dysraphic. The anus was imperforate. Neurologically the child was normal. The cardiac examination (including echocardiogram) also was normal. A primary repair was undertaken on the first day of life. This included a bilateral orchiectomy (the testicles were intraabdominal in location), approximation of the pubic ramus without osteotomy, tubularization of the colonic plate with left upper quadrant colostomy and m"ucous fistula, and closure of the bladder exstrophy. The abdominal wall was closed with a synthetic patch, which was partially covered by skin flaps. This patch was removed 4 days later and closure completed with myocutaneous rectus flaps and a skin closure.
© 1992 by the American Institute of Ultrasound in Medicine• J Ultrasound Med 11:507-510, 1992 • 0278-4297/92/$3.50
508
PRENATAL ULTRASONOGRAPHY DIAGNOSIS
J Ultrasound Med 11:507- 510,
1992
The legs were kept bound together for the following 2 weeks. A fistula from the tubularized colon closed spontaneously. The pubis separated and in the third week of life bladder exstrophy recurred. A subsequent attempt at closure without closing the pelvis also failed. The child is now 4 months old and is doing well at home. We plan pelvic closure with repair of the exstrophy in the near future.
Discussion
Figure 1 Sagittal view of the fetal abdomen and lower chest at 25 weeks' gestation. The anterior chest wall (AC), spine (Sp), stomach (St), and umbiUcal vein (uv) are marked. The liver·containing omphalocele sac is demarcated with arrows. Note how the omphalocele encompasses the entire anterior lower abdominal wall.
Figure 2 Transverse view through the fetal pelvis. The sacrum (S) and buttocks (B) are to the right. The iliac wings are marked with arrows. Note the absence of a visible bladder within the pelvis (P) and the large omphalocele (0), which extends down to the level of the pelvis. The umbilical vein (U) is seen as it enters the omphalocele on the left.
Cloacal exstrophy consists of a severe disruption of the urogenital tract. In the classic defect, there is a central exstrophic bowel field flanked by two hemibladders. Each of the hemibladders has a ureteral orifice. The bowel field usually has three or four orifices. The most anterior is the terminal ileum, which may be prolapsed, resulting in an "elephant trunk" appearance. The most distal orifice leads to a short, blind-ending distal colon segment. One or two appendiceal orifices may be present in the exstrophied bowel field as well. The anus is imperforate. Phallic structures are divided and widely separated or absent. A wide variety of associated malformations may be found.M In almost all cases an omphalocele is present. Between 40 and 903 of infants have vertebral anomalies, and 30 to 703 have a myelomeningocele. Upper urinary tract malformations are extremely common, most often consisting of unilateral or bilateral renal agenesis (in to to 353 of infants) and crossed-fused ectopia (10 to 603 ). Lower extremity malformations, consisting of clubfoot or other deformities of the long bones, are present in 20 to 453 of infants. Other gastrointestinal malformations, such as malrotation, duplications, or anatomically short small bowel, are present in about 503 of cases. Many affected infants have a single umbilical artery. Cloaca] malformations are caused by abnormal embryogenesis and not arrested development. Several theories have been proposed to account for the clinical findings. These have been reviewed by Ziegler and colleagues. 7 Prior to 1960, there were no reported surviving infants with cloaca] exstrophy. 1 With improved surgical management and supportive care, survival rates have increased to 70 to 903 in recent decades.3• 5• 6 Multiple surgical procedures are required and are performed in stages. During stage one, the omphalocele is excised, the bowel is separated from the hemibladders, the exstrophic ileocecal region is closed in continuity, and a short colostomy is created from the end of the distal colon segment. 3 Emphasis is placed on preserving bowel length, avoiding ileostomy because of problems with short bowel syndrome. The hemibladders are then
J Ultrasound Med 11:507-510, 1992
RICHARDS ET AL
509
Figure 3 The components of a classic cloaca! exstrophy are well demonstrated in this pho· tograph of our patient shortly after birth: the bowel plate (Bo); the umbilical cord inserting into the omphalocele sac (Om); the ilea! prolapse (IP) ("elephant trunk'); the exstrophied hemibladders (Bl) separated by the lower end of the omphalocele and the upper end of the bowel plate; the bifid phallus (Ph) overlying the ends of the pubis; the bifid labial scrotal folds (La) on either side of the exstrophic bowel plate; and the appendiceal orifices (Ap) in the lower portion of the exstrophied bowel plate. Not seen is the imperforate anus. The ·elephant trunk' prolapse and intestinal plate can be confused with a male phallus and scrotum, sometimes leading to inappropriate sex assignment in the delivery room.
approximated in the midline, creating a single exstrophied bladder. In a subsequent procedure, an attempt is made to close the exstrophied bladder and bring together the pubic symphysis. After a variety of bladder reconstruction and urethral and bladder neck continence procedures, urinary continence may be possible, although clean intermittent catheterization is required. 8 Virtually all genetic males have severe abnormalities of the genitalia, including diminutive and separated corporal bodies, bifid scrotum, and un· descended testes. 6 Genetic females also have a variety of malformations, including bifid uterus, double vagina, and exstrophied vagina. 6 There is only one prior report of the prenatal ultrasonographic diagnosis of cloaca! exstrophy. 2 That case was diagnosed immediately prior to the delivery at 31 weeks' gestation of an infant who died shortly after birth. Ultrasonography showed a very large omphalocele, a Iumbosacral meningomyelocele, bilateral clubfeet, polyhydramnios, ascites, and a narrow chest. On the basis of these findings, the authors diagnosed cloaca! exstrophy. They state that •the bladder was clearly visible' by ultrasonography. It is not clear whether they saw the exstrophied hemibladders or a pelvic cyst that was mistakenly thought to be a fluidfilled bladder. Although the authors state that ascites and a small chest are characteristically present with cloaca) exstrophy, there has been no reference to these findings in neonatal series. 3 - 6 Since omphalocele and exstrophy are constant in cloaca! malformations, the hallmarks of the prenatal diagnosis should be the presence of a large omphalocele with failure to visualize a normal bladder. Although other anomalies associated with cloaca! exstrophy are commonly found, they are not always present, and their absence cannot be used to exclude the diag-
nosis. We could not specifically see the hemibladders or other abnormal perinea! structures as the omphalocele sac covered this area. Our case demonstrates that the inability to visualize clearly these abnormalities does not preclude an accurate diagnosis. A careful search should be made for associated malformations, not only to help establish the diagnosis, but also to aid in counseling the patient. Generally it should be possible to distinguish cloaca! exstrophy from other abnormalities of the lower abdominal wall. With ompha!ocele and gastroschisis the bladder is seen, whereas it is absent in bladder exstrophy and cloaca) exstrophy. In bladder exstrophy the infant has a low umbilicus and anteriorly placed geni· talia. 9 Although wide separation of the pubis symphysis and the rectus muscles is seen with bladder exstrophy, omphalocele, which is a constant feature of cloacal exstrophy, is absent. Those providing prenatal counseling should be aware that genetic males with cloacal exstrophy usually are reared as females; this recommendation is unanimous because of the near impossibility of creating functioning male genitalia. 5• 6· 10 In our case, we did not consider this issue until after the karyotype had been divulged to the parents. They adjusted well after an explanation that the phenotypic sex, not the karyotypic sex, determined the sex of rearing.
REFERENCES J Urol 92:490, 1964 2. Meizner I, Bar·Ziv j: Prenatal ultrasonic diagnosis of cloaca! exstrophy. Am J Obstet Gynecol 153:802, 1985 1. Soper RT, Kilger K: Vesico·intestinal fissure.
510
PRENATAL ULTRASONOGRAPHY DIAGNOSIS
3. Hurwitz RS, Manzoni GA, Ransley PG, et al: Cloaca) exstrophy: A report of 34 cases. J Urol 138.:1060, 1987 4, Meglin A], Balotin RJ, Jelinek JS, et al: Cloaca) exstrophy; Radiologic findings in 13 patients. AJR 155:1267, 1990 5. Stolar CJ, Randolph JG, Flanigan LP: Cloaca) exstrophy: Individualized management through a staged surgical approach. J Pediatr Surg 25:505, 1990 6.. Howell C, Caldamone A, Snyder H, et al: Optimal management of cloaca! exstrophy. J Pediatr Surg 18:365, 1983 7. Ziegler MM, Duckett JW, Howard CG: Cloaca) exstrophy.
J Ultrasound Med 11:507- 510, 1992
111 Welch Kl (ed): Pediatric Surgery. Chicago, Year Book Medical Publishers, 1986, p 764 8. Mitchell ME, Brito CG, Rink RC: Cloaca! exstrophy: Reconstruction for urinary continence. J Urol 144:554, 1990 9. Romero R, Pilu G, Jeanty P, et al: Prenatal Diagnosis of Congenital Anomalies. Norwalk, CT, Appleton & Lange, 1988, p 228 1O. Husmann DA, Mc Lorie GA, Churchill BM: Phallic reconstruction in cloaca! exstrophy. J Urol 142:563, 1989
