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Bladder Exstrophy

Article  in  Fetal and pediatric pathology · March 2012

DOI: 10.3109/15513815.2011.650286 · Source: PubMed

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 Fetal and Pediatric Pathology, 31:225–229, 2012
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ISSN: 1551-3815 print / 1551-3823 online
DOI: 10.3109/15513815.2011.650286

Bladder Exstrophy

Seyfettin Uludag,1 Onur Guralp,2 Murat Akbas,2 Yavuz Aydin,2 Cihat Sen,1
and Sezin Uludag3
1
Istanbul University, Cerrahpasa School of Medicine, Department of Obstetrics and
Gynecology, Division of Maternal Fetal Medicine, Istanbul, Turkey; 2 Istanbul University,
Cerrahpasa School of Medicine, Department of Obstetrics and Gynecology, Istanbul,
Fetal Pediatr Pathol Downloaded from informahealthcare.com by Mr. Mitchell Gang on 09/06/12

Turkey; 3 Istanbul University, Cerrahpasa School of Medicine, Istanbul, Turkey

Bladder exstrophy is a very rare congenital malformation in which the anterior wall of the blad-
der is absent, and the posterior wall is exposed externally. The differential diagnosis includes
omphalocele, gastroschisis, and cloacal exstrophy. Ultrasound and Doppler examinations are the
main diagnostic tools. Although mortality is low, termination of pregnancy should be discussed
due to serious morbidities.
Keywords bladder, exstrophy, doppler-ultrasonography
For personal use only.

INTRODUCTION
Bladder exstrophy is a rare and severe congenital anomaly found in 1/25,000–1/50,000
births with a 2:1 male-to-female ratio [1]. It begins in the fourth week of gestation due
to the failure of mesenchymal cells to migrate between the ectoderm of the abdomen
and the cloaca, and results in eversion of bladder on the abdominal surface, diver-
gence of pubis, abnormal external genitalia, and inferiorly displaced umbilicus [2].
Exstrophy includes a spectrum of urological malformations ranging from mild-to-
severe forms. Epispadias, the milder form, is a condition where the urethra opens on
the top surface of the penis instead of on the tip. In classic bladder exstrophy, the blad-
der and related structures are open and located outside the body. Although the causes
of exstrophy are not known, there is some evidence that genetic factors may play a role
[1]. The risk of recurrence of exstrophy in a given family is 1 out of 275 births. There is
a 1 in 70 chance a parent with exstrophy will have a child with the same disorder. It
is difficult to recognize bladder exstrophy prenatally. The prenatal diagnosis is based
on a nonvisible fetal bladder, normal fetal kidneys, normal amniotic fluid volume, low
insertion of the umbilical cord, a bulging mass protruding from the lower abdominal
wall, a small penis, epispadias, and splayed iliac bones [1, 3, 4].
We report a case of bladder exstrophy diagnosed at 22 weeks of gestation.

CASE REPORT
A 22-year-old pregnant woman was referred to the Division of Maternal Fetal Medicine
of our hospital at 22 weeks of gestation for a sonographic anatomical fetal survey
when an outside ultrasound scan failed to demonstrate a fetal bladder. The patient’s

Address correspondence to Dr. Onur Guralp, Istanbul University, Cerrahpasa Medical Faculty,
Department of Obstetrics and Gynecology, Istanbul, Turkey. E-mail: dronur@hotmail.com


  S. Uludag et al.
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For personal use only.

FIGURE 1 Umblical arteries situated alongside the bulging mass protruding from the lower ab-
dominal wall.

previous obstetric history was unremarkable, and the examination identified a sin-
gle live fetus. The biometric parameters were consistent with gestational age. Un-
der ultrasonographic examination, the kidneys and amniotic fluid volume were
normal; however, no fluid-containing urinary bladder could be demonstrated be-
tween the two internal iliac vessels which were remarked by color flow doppler
(Figure 1). A 13-mm bulging mass protruding from the lower abdominal wall
just below the insertion of the umbilical cord was seen. No other morphologic
anomalies were identified. Findings were compatible with the diagnosis of bladder
exstrophy.
The family was informed of the chromosomal abnormalities and cordocentesis was
performed at 22 weeks of gestation. Amniocentesis showed a normal male karyotype.
Following counseling, the family decided to terminate the pregnancy. The pathology
specimen confirmed the bladder exstrophy (Figure 2).

DISCUSSION
Bladder and cloacal exstrophy have a common embryologic origin in abdominal de-
velopment. In bladder exstrophy, usual findings include nonvisualization of the fetal
bladder, low insertion of the umbilicus, pubic bone diastasis, epispadias, and small
genitals with normal kidneys and normal amniotic fluid volume. The bladder is ev-
erted and exposed on the lower part of the anterior abdominal wall. Exstrophy of the
urethra and external bladder sphinchter is present in all forms; however, typical form
is characterized with wide diastasis of the symphysis pubis which is minimal in the
mild form. Omphalocele, undescended testis, inguinal hernia, and anal canal defects
could be found in severe form [4].

Fetal and Pediatric Pathology

 Bladder Exstrophy 
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FIGURE 2 Macroscopic appearance of the fetus.

Cloacal exstrophy also known as the OEIS complex (omphalocele, exstrophy

of the bladder, imperforate anus, and spinal anomalies) is characterized by an
intestinal mucosa separating the two hemi-bladders and ileum opens to this part
of the intestinal mucosa. Criteria for prenatal sonographic diagnosis are not as well
delineated for this disease as for bladder exstrophy. The main criterion is an absent
bladder combined with another anomaly, such as omphalocele, persistent cloacal
membrane, lumbosacral anomalies, limb defects, renal anomalies, ascites, widened
pubis, or single umbilical artery [5]. The prognosis is very poor with a mortality rate
of 55%. Renal abnormalities, such as agenesis, hydronephrosis, multicystic dysplastic
kidney, or hydroureter, have been described in 60% of patients; spinal defects, such
as spina bifida or kyphoscoliosis, have been described in 70% of patients and lower

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  S. Uludag et al.

limb anomalies have been seen in 18–65% of patients. Other findings can include a
single umbilical artery and elevated alpha-fetoprotein levels [5]. Extensive surgery is
required with the future likelihood of fecal and urinary incontinence. Initial surgery
is undertaken in the first week of life and includes closing the bladder, abdominal
wall, and extrophied bowel. The majority of patients require a permanent intestinal
end-stoma. Historically, males have been raised as females with gonadectomies
performed early in life, though improvements in the understanding of the dis-
ease and in reconstruction of the penis are changing this approach. Termination
of pregnancy should be discussed if this complex disease is discovered early in
gestation.
The fetal bladder can be identified in the pelvis from 11–12 gestational weeks [6] and
persistent absence of the bladder should be considered as abnormal from the 15th ges-
tational week. The differential diagnosis of bladder exstrophy includes omphalocele,
Fetal Pediatr Pathol Downloaded from informahealthcare.com by Mr. Mitchell Gang on 09/06/12

gastroschisis, and cloacal exstrophy. In the first two diagnoses, there should be a nor-
mally filled bladder within the pelvis. Cloacal exstrophy is difficult to diagnose, but
should be suspected when concurrent bowel and genital abnormalities are seen. In
the EUROSCAN study, which is a multicenter analysis of 709,030 births in 12 European
countries, mean gestational age for the diagnosis of bladder exstrophy was detected at
18.5 weeks (range: 11–31). In this study, the total number of bladder exstrophy cases
was 19, and 10 (53%) cases were diagnosed prenatally. Eight pregnancies were termi-
nated, one pregnancy resulted in a stillbirth, and 10 pregnancies ended with livebirths
[7]. We think that this prenatal diagnosis rate is very low for modern ultrasonographic
examination.
For personal use only.

One of the key points in ultrasonographic diagnosis of bladder exstrophy is the

recognition of umbilical arteries situated alongside the bulging mass protruding from
the lower abdominal wall. In normal anatomy, the umbilical arteries arise from the
external iliac arteries and run on each side of the urinary bladder before entering
the umbilical cord. These are clearly visible on a color Doppler ultrasound; therefore,
the umbilical arteries can be considered a good landmark for the urinary bladder
and ultimately for the origin of the mass [8]. Therefore, we may suggest that doppler
examination of umblical arteries on both sides of the bladder should be part of the
routine fetal anatomy ultrasound. In our clinic, we diagnosed two cases prenatally
and there has been no missed case where a child was born with bladder exstrophy
in our review of 10 years. We owe this success to our routine Doppler examination of
bilateral umblical arteries.
Post-natal management includes closure of the bladder and abdominal wall,
usually within the first 48 hours of life [9]. Female genital reconstruction is often
done concurrently; however, male genital reconstruction is often delayed to allow for
penile growth. There are significant morbidities in this disease including incontinence
and poor fertility. Extensive reconstruction is often required to achieve continence
and spontaneous voiding. After corrective operations, male urinary continence was
reported to be betweeen 45% and 96%; male fertility was reported to be between 0%
and 20% and rates of successful erection were reported to be between 53% and 100%
[1]. Although mortality is low, termination of pregnancy should be discussed due to
serious morbidities.

Declaration of Interest
The authors report no conflicts of interest. The authors are responsible for the content
and writing of the article.

Fetal and Pediatric Pathology

 Bladder Exstrophy 

REFERENCES
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