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Contents
1 Epidemiology and Embryology of the Bladder Exstrophy:
Epispadias Complex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Nicolas Fernandez, Camila Moreno, and Darius Bagli
2 Bladder Exstrophy-Epispadias Complex:
Prenatal Diagnosis and Counseling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Juliana Gebb, Lisa Pilchman, and Julie S. Moldenhauer
3 Bladder Exstrophy Genetics: Our Current Understanding . . . . . . . . . 25
John K. Weaver and Chen-Han Wilfred Wu
4 Prenatal and Postnatal Imaging of the Bladder
Epispadias-Exstrophy Complex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
Edward R. Oliver and Susan J. Back
5 Surgical Considerations: Indications and Timing for Surgery
(Defining Outcomes and Expectations of Exstrophy Repair) . . . . . . . . 65
Pramod P. Reddy
6 Complete Primary Repair of Bladder Exstrophy
and Epispadias
Karl F. Godlewski, Michael E. Mitchell, Dana A. Weiss,
and Aseem R. Shukla
7 The Modern Staged Repair of Classic Bladder Exstrophy . . . . . . . . . . 103
Chad B. Crigger and John P. Gearhart
8 The Kelly Procedure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 129
Navroop S. Johal, Mehak Sehgal, and Imran Mushtaq
9 Scrotoperineal Approach to Bladder Exstrophy Repair . . . . . . . . . . . . 141
S. N. Kureel, Archika Gupta, and Kanoujia Sunil
10 Surgical Management of Male Classic Bladder Exstrophy:
The Toronto Approach . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 173
Joao Luiz Pippi Salle, Rodrigo L. P. Romao, and Michael Chua
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
xiii
xiv
Contents
11 Modified Perineal Approach in the Management of Female
Epispadias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 189
Joao Luiz Pippi Salle, Rodrigo L. P. Romao, and Michael Chua
12 Osteotomies for Bladder Exstrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . 199
B. David Horn, Soroush Baghdadi, Piyush Sudamalal Mittal,
Vinod Gautam, and Stefano Cardin
13 Common Adjuvant Surgeries in Exstrophy/Epispadias Care . . . . . . . 223
Elizabeth Roth, Travis Groth, and John Kryger
14 Continent Anal Urinary Diversions in Bladder Exstrophy . . . . . . . . . . 235
Jacqueline P. Morin and V. Rama Jayanthi
15 Cloacal Exstrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 241
Ted Lee and Joseph Borer
16 Male Epispadias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 257
Paul A. Merguerian
17 The Failed Exstrophy Repair: Technique and Implications . . . . . . . . . 277
Rakesh S. Joshi and Jaishri Ramji
18 Perioperative Management of Bladder Exstrophy . . . . . . . . . . . . . . . . 301
Anjana Kundu, Arvid Yung, and Rita Agarwal
19 Exstrophy as a Global Health Concern: Strategies for
Addressing the Burden of Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 313
Katelyn A. Spencer, Aseem R. Shukla, and Rakesh S. Joshi
20 Incontinence in Exstrophy-Epispadias: Should We Change Our
Thinking? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 323
Dana A. Weiss
21 Surgical Options for Refractory Urinary Incontinence
in Classic Bladder Exstrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 331
Brian A. VanderBrink
22 Urinary Reconstruction for Bladder Exstrophy
in the Developing World: Special Consideration
and Technique . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 359
Sudipta Sen, Pavai Arunachalam, and Ravi Kishore Barla
23 Kidney and Bladder Exstrophy: Considerations and Caution . . . . . . . 379
Sangeeta Hingorani
24 Role of Nursing in the Early Care of Patients
with Bladder Exstrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 393
Carolyn Fazzini, Amber Heberling, Aseem R. Shukla,
and Dana A. Weiss
Contents
xv
25 The Impact of Physical Therapy on the Bladder
Exstrophy-Epispadias Complex . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 401
Sarah Cooper and Caroline Bergh
26 Psychological Implications of Bladder Exstrophy-Epispadias . . . . . . . 413
Christina M. Rouse
27 Reproductive and Sexual Health in Bladder Exstrophy . . . . . . . . . . . . 423
Raimund Stein and Margarett Shnorhavorian
28 Gynecology in Bladder Exstrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 431
Lissa Yu, Stephanie Cizek, and Lesley Breech
29 Advocacy for the Exstrophy Community: Empowering
and Encouraging the Patient and Family . . . . . . . . . . . . . . . . . . . . . . . . 449
Pamela Artigas and Emily Haddad
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 463
Contributors
RitaAgarwal Department of Anesthesiology, Lucille Packard Children’s Hospital,
Stanford University, Palo Alto, CA, USA
Pamela Artigas Association for the Bladder Exstrophy Community (A-BE-C),
Vero Beach, FL, USA
PavaiArunachalam Department of Pediatric Surgery, PSG IMS&R, Coimbatore,
Tamil Nadu, India
Susan J. Back Department of Radiology, Children’s Hospital of Philadelphia,
Philadelphia, PA, USA
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Soroush Baghdadi Department of Orthopedic Surgery, UCLA, Los
Angeles, CA, USA
Darius Bagli Division of Urology, Department of Surgery, Sickkids Hospital,
University of Toronto, Toronto, ON, Canada
Ravi Kishore Barla Department of Pediatric Surgery, CMC Hospital, Vellore,
Tamil Nadu, India
Caroline Bergh
Philadelphia, Philadelphia, PA, USA
JosephBorer
Lesley Breech University of Cincinnati School of Medicine, Department of
Obstetrics and Gynecology, Cincinnati, OH, USA
Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
Stefano Cardin Division of Pediatric Orthopaedics, Orlando Health – Arnold
Palmer Hospital for Children, Orlando, FL, USA
Michael Chua Division of Pediatric Urology, Hospital for Sick Children,
University of Toronto, Toronto, ON, Canada
Department of Physical Therapy, Children’s Hospital of
Department of Surgery, Harvard Medical School, Boston, MA, USA
xvii
xviii
Contributors
Stephanie Cizek Stanford University School of Medicine, Department of
Obstetrics and Gynecology, Division of Pediatric and Adolescent Gynecology, Palo
Alto, CA, USA
Lucille Packard Children’s Hospital, Palo Alto, CA, USA
Sarah Cooper Department of Physical Therapy, Children’s Hospital of
Philadelphia, Philadelphia, PA, USA
Chad B. Crigger Jeffs Division of Pediatric Urology, The Brady Urological
Institute, Johns Hopkins Hospital, Baltimore, MD, USA
CarolynFazzini Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Nicolas Fernandez Division of Pediatric Urology, Seattle Children’s Hospital,
Seattle, WA, USA
University of Washington, Seattle, WA, USA
Vinod Gautam Department of Orthopedics, Government Medical Collage,
Gujarat, India
John P. Gearhart Jeffs Division of Pediatric Urology, The Brady Urological
Institute, Johns Hopkins Hospital, Baltimore, MD, USA
Juliana Gebb Richard D.Wood Jr. Center for Fetal Diagnosis and Treatment,
Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA, USA
KarlF.Godlewski Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Travis Groth Pediatric Urology, Children’s Wisconsin, Medical College of
Wisconsin, Milwaukee, WI, USA
Archika Gupta Department of Pediatric Surgery, King Geroge’s Medical
University, Lucknow, India
Emily Haddad Association for the Bladder Exstrophy Community (A-BE-C),
Vero Beach, FL, USA
AmberHeberling Seattle Children’s Hospital, Seattle, WA, USA
SangeetaHingorani University of Washington School of Medicine, Department
of Pediatrics, Division of Nephrology, Seattle Children’s Hospital, Seattle, WA, USA
B. DavidHorn Department of Orthopedic Surgery, The Children’s Hospital of
Philadelphia, Philadelphia, PA, USA
V. Rama Jayanthi Department of Pediatric Urology, Nationwide Children’s
Hospital, Columbus, OH, USA
Navroop S. Johal Department of Paediatric Urology, Great Ormond Street
Hospital for Children NHS Foundation Trust, London, UK
RakeshS.Joshi Department of Pediatric Surgery, B. J. Medical College and Civil
Hospital, Ahmedabad, Gujarat, India
Contributors
xix
Department of Paediatric Surgery, Ahmedabad Civil Hospital, Ahmedabad,
Gujarat, India
John Kryger Pediatric Urology, Children’s Wisconsin, Medical College of
Wisconsin, Milwaukee, WI, USA
Anjana Kundu Department of Anesthesiology and Perioperative Medicine,
Golisano Children’s Hospital and University of Rochester, Rochester, NY, USA
S.N.Kureel Department of Pediatric Surgery, King Geroge’s Medical University,
Lucknow, India
TedLee Department of Urology, Boston Children’s Hospital, Boston, MA, USA
Paul A. Merguerian Seattle Children’s Hospital, University of Washington,
Seattle, WA, USA
MichaelE.Mitchell Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Children’s Hospital of Wisconsin, Medical College of Wisconsin,
Milwaukee, WI, USA
PiyushSudamalalMittal Department of Orthopaedic, Civil Hospital, B.J.Medical
College & Government Spine Institute, Ahmedabad, Gujarat, India
Julie S. Moldenhauer Richard D. Wood Jr. Center for Fetal Diagnosis and
Treatment, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA, USA
CamilaMoreno Division of Urology, Department of Surgery, Sickkids Hospital,
University of Toronto, Toronto, ON, Canada
Jacqueline P. Morin Department of Pediatric Urology, Nationwide Children’s
Hospital, Columbus, OH, USA
ImranMushtaq Department of Paediatric Urology, Great Ormond Street Hospital
for Children NHS Foundation Trust, London, UK
EdwardR.Oliver Department of Radiology and Richard D. Wood Jr. Center for
Fetal Diagnosis and Treatment, Children’s Hospital of Philadelphia,
Philadelphia, PA, USA
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
LisaPilchman Children’s Hospital Los Angeles, Los Angeles, CA, USA
JaishriRamji Department of Pediatric Surgery, B. J. Medical College and Civil
Hospital, Ahmedabad, Gujarat, India
Pramod P. Reddy Division of Pediatric Urology, Cincinnati Children’s,
Cincinnati, OH, USA
RodrigoL.P.Romao Division of Pediatric Urology, Division of Pediatric General
and Thoracic Surgery, Hospital for Sick Children, University of Toronto, Toronto,
ON, Canada
xx
Contributors
Elizabeth Roth Pediatric Urology, Children’s Wisconsin, Medical College of
Wisconsin, Milwaukee, WI, USA
Christina M. Rouse Division of Urology, Children’s Hospital of Philadelphia,
Philadelphia, PA, USA
JoaoLuizPippiSalle Division of Urology, SickKids Hospital and Co-Director of
the Center for Pelvic Reconstruction, Toronto, Canada
MehakSehgal Department of Paediatric Urology, Great Ormond Street Hospital
for Children NHS Foundation Trust, London, UK
SudiptaSen Department of Pediatric Surgery, PSG IMS&R, Coimbatore, Tamil
Nadu, India
Department of Pediatric Surgery, CMC Hospital, Vellore, Tamil Nadu, India
Margarett Shnorhavorian University of Washington, Department of Urology,
Seattle, WA, USA
Seattle Children’s Hospital, Division of Pediatric Urology, Seattle, WA, USA
AseemR.Shukla Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
KatelynA.Spencer Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Raimund Stein Center for Pediatric, Adolescent and Reconstructive Urology,
University Medical Center Mannheim, Medical Faculty Mannheim Heidelberg
University, Mannheim, Germany
KanoujiaSunil Chandan Institute of Pediatric and Neonatology, Lucknow, India
Brian A. VanderBrink Division of Pediatric Urology, Cincinnati Children’s
Hospital Medical Center, Cincinnati, OH, USA
JohnK.Weaver Cleveland Clinic Lerner College of Medicine at Case Western
Reserve University School of Medicine, Cleveland, OH, USA
DanaA.Weiss Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Perelman School of Medicine at the University of Pennsylvania, Philadelphia,
PA, USA
Chen-Han WilfredWu Case Western Reserve University School of Medicine,
Cleveland, OH, USA
LissaYu University of Washington School of Medicine, Department of Obstetrics
and Gynecology, Division of Pediatric and Adolescent Gynecology, Seattle, WA, USA
Seattle Children’s Hospital, Seattle, WA, USA
ArvidYung Department of Anesthesiology and Perioperative Medicine, Golisano
Children’s Hospital and University of Rochester, Rochester, NY, USA
Epidemiology andEmbryology
oftheBladder Exstrophy: Epispadias
Complex
NicolasFernandez, CamilaMoreno, andDariusBagli
Introduction
Bladder exstrophy and epispadias complex is a spectrum of anomalies that affect
genital and bladder development.
The embryology and developmental pathology are complex and involve interaction between multiple tissue and cell types. Currently, most of the mechanistic
details regarding the precise etiology of bladder exstrophy remain unknown. Our
understanding remains limited to several published theories given the inability to
follow early human embryological events to the nal development of exstrophy in
the late fetus.
The purpose of this chapter is to present the available epidemiology and review
the present embryological, physiopathological, and molecular understanding of this
complex condition.
1
Epidemiology
Bladder exstrophy is a rare and complex birth defect. It is considered a spectrum
that includes epispadias, classic bladder exstrophy, and omphalocele-exstrophy
imperforated anus spinal anomaly (OEIS) [1]. The global reported prevalence is 2–8
N. Fernandez
Division of Pediatric Urology, Seattle Children’s Hospital, Seattle, WA, USA
University of Washington, Seattle, WA, USA
e-mail: Nicolas.fernandez@seattlechildrens.org
C. Moreno · D. Bagli (
Division of Urology, Department of Surgery, Sickkids Hospital, University of Toronto,
Toronto, ON, Canada
e-mail: darius.bagli@sickkids.ca
© The Author(s), under exclusive license to Springer Nature
Switzerland AG 2025
A. R. Shukla, R. S. Joshi (eds.), Bladder Exstrophy and Epispadias,
https://doi.org/10.1007/978-3-031-91238-2_1
*)
1
2
N. Fernandez et al.
cases per 100,000 newborns [2, 3]. Depending on the type of defect, different prevalence rates have been reported. For epispadias, the reported prevalence is 2.4 per
100,000 newborns, with 2–4 per 100,000 newborns for bladder exstrophy and 0.5–1
per 100,000 newborns for OEIS [4]. One of the largest epidemiological analyses on
bladder exstrophy reported 546 cases per 24,355,094 newborns, which results in a
prevalence of 2 per 100,000 newborns. Reports of prevalence changes over time and
high/low prevalence geographical clusters have been described in the past [3]. An
initial report from the International Clearinghouse for Birth Defects Monitoring
Systems (ICBDSR) between 1980 and 2006 reported a prevalence of 2.07 per
100,000 newborns (95% CI=1.90–2.25) [2]. Another multinational study reported
a prevalence of 3.3 per 100.000 newborns during the period between 1967 and 1985
[5] (Fig.1.1).
Stillbirth prevalence has been reported to be 11 per 1000 stillborn fetuses [3].
Recent publications have reported a reduction in live birth prevalence over time,
probably related to pregnancy terminations [3]. Interestingly, areas with prevalence
below the worldwide average have been reported in China and South America [2].
The lack of epidemiological data from large, densely populated countries like India,
where there are no national surveillance systems, limits the ability to conclude prevalence trends in this region [6]. Variations can be attributed to differences in case
detection or variations in inclusion criteria used in different surveillance systems
and whether epispadias cases alone are included in the spectrum or not. Specically,
case denition is reported to be different within surveillance systems, as seen in the
EUROCAT [3].
Prenatal detection of bladder exstrophy was reported for the rst time in 1995 by
Gearhart etal. Diagnostic criteria include: (1) absence of a distended bladder, (2)
Fig. 1.1 Reported prevalence rates in literature for different regions in the world. Data from each
region do not fall withing the same time periods [2, 3]
1 Epidemiology andEmbryology oftheBladder Exstrophy: Epispadias Complex
3
low insertion of the umbilical cord, (3) wide ramus pubis, (4) small genitalia, and
(5) abdominal mass [7]. An accurate report of prenatal prevalence diagnosis is difcult to interpret given the technical difculties in its detection, the timing of ultrasounds during pregnancy, and the regulations about pregnancy terminations in
different regions of the world. A longitudinal cohort of prenatally screened patients
reported that only one-quarter of the babies born with bladder exstrophy were
detected with prenatal ultrasounds [8].
Bladder exstrophy presents 1.5–2.3 times more frequently in male patients than
in females [9]. It is important to remember that in severe OEIS cases, initial gender
designation itself may be challenging, requiring multidisciplinary management. For
this reason, initial case identication by gender may not always be prospectively
known [10].
The most common risk factors associated with bladder exstrophy are low birth
weight and Caucasian ethnicity [2, 11, 12]. Smoking during pregnancy and prior
family/siblings history of bladder exstrophy have been reported to be highly associated. Maternal age has also been identied as a risk factor, with older mothers having a higher risk. Exposure to endocrine disruptors and invitro fertilization have
also been described to support a 7.5-fold increased risk [13]. A large multinational
study has reported a mortality of 6% in the rst day of life and 3.5% in the rst
6days of life [3].
About one-third of patients born with bladder exstrophy have associated anomalies. Upper urinary tract anomalies are the most frequent, present in about 40% of
the cases. Omphalocele is present in 34% of the cases, followed by anorectal malformations in 21%, neural tube defects in 18%, and cardiac anomalies in 15% [2,
12]. The risk of another child being born with bladder exstrophy in a given family
is 1in 100 cases [14]. Moreover, for pregnant women with bladder exstrophy, the
reported risk of carrying a fetus with bladder exstrophy is 500 times greater than in
the general pregnant population and is reported to be 1in 70 newborns [9]. A higher
risk of bladder exstrophy has also been reported within families with other members
harboring midline congenital anomalies [15].
Embryology andPathophysiology
Etymology
The term “exstrophy” in the medical context is used primarily to refer to conditions
related to the abnormal development and exposure of internal organs. As is often the
case, the term originates from the Greek. The word “ek” translates as “out,” and
“strophe” translates to “a turning.” Thus, the term literally means a “turning inside
out,” capturing the medical conditions where internal organs are exposed or externalized. This accurately describes the nature of bladder exstrophy and, where present, penile epispadias, whose internal structures are presented outside the body
cavity. Indeed, exstrophy of the bladder often co-presents with spinal, abdominal
wall, and colorectal anomalies.