ultrasound diagnosis of fatal anomalies

7 Urogenital Tract
Bladder Exstrophy
Definition: Incomplete closure of the bladder,
lower urinary tract, symphysis, and lower
abdominal wall.
Incidence: One in 30 000 births.
Sex ratio: M:F=3:1.
Clinical history/genetics: Mostly sporadic, rarely
increased familial occurrence. Increase of alpha
fetoprotein. If one parent is affected, there is a
1.5% risk of occurrence.
Teratogens: Not known.
Embryology: The two halves of the bladder fail
to close in the midline, so that this is not considered
to be primarily a defect of the abdominal
wall, but rather a disturbed development of the
urogenital sinus at around 7–9 weeks after menstruation.
The urethra and clitoris or penis are
also affected.
Associated malformations: These are rarely
found, except for the genital anomalies and clefting
of the symphysis, which coexist with this
malformation.
Ultrasound findings: The urinary bladder cannot
be detected on repeated scans. A lesion is seen in
the lower part of the abdomen (eversion of the
posterior bladder wall). The insertion of the
umbilical cord is lower than normal.
Clinical management: Further sonographic
screening, including fetal echocardiography.
Possibly karyotyping. Normal delivery.
Procedure after birth: The defect should be
covered with sterile cloth. Early surgical correction.
Additional operative procedures are necessary
in the first years of life.
Prognosis: Surgical correction can restore urinary
continence in 60–80% of cases. The survival
rate is 90%. Bladder cancers appear to occur
more frequently in these patients.
Self-Help Organization
Title: Association for Bladder Exstrophy Community
Description: Mutual support for persons affected
by bladder exstrophy, including
parents of children with bladder exstrophy,
adults, health-care professionals and others
interested in exstrophy. Newsletter, literature,
information and referrals, informal pen-pal
program, conferences, advocacy, directory of
members. Informal kids’ e-mail exchange.
Scope: International network
Founded: 1991
Address: P.O. Box1472, Wake Forest, NC
27588–1472, United States
Telephone: 910–864–4308
E-mail: admin@bladderexstrophy.com
Web: http://www.bladderexstrophy.com/
References
Cacciari A, Pilu GL, Mordenti M, Ceccarelli PL, Ruggeri G.
Prenatal diagnosis of bladder exstrophy: what counseling?
J Urol 1999; 161: 259–61.
Gearhart JP, Ben Chaim J, Jeffs RD, Sanders RC. Criteria
for the prenatal diagnosis of classic bladder exstrophy.
Obstet Gynecol 1995; 85: 961–4.
Goldstein I, Shalev E, Nisman D. The dilemma of prenatal
diagnosis of bladder exstrophy: a case report
and a review of the literature. Ultrasound Obstet Gynecol
2001; 17: 357–9.
Langer JC, Brennan B, Lappalainen RE, et al. Cloacal exstrophy:
prenatal diagnosis before rupture of the
cloacal membrane. J Pediatr Surg 1992; 27: 1352–5.
Mirk P, Calisti A, Fileni A. Prenatal sonographic diagnosis
of bladder exstrophy. J Ultrasound Med 1986; 5:
291–3.
Pinette MG, Pan YQ, Pinette SG, Stubblefield PG, Blastone
J. Prenatal diagnosis of fetal bladder and cloacal
exstrophy by ultrasound: a report of three cases.
Reprod Med 1996; 41: 132–4.
Thomas DF. Prenatal diagnosis: does it alter outcome?
Prenat Diagn 2001; 21: 1004–11.
WilcoxDT, Chitty LS. Non-visualisations of the fetal
bladder: aetiology and management. Prenat Diagn
2001; 21: 977–83.
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