Pe d i a t r i c I m a g i n g • R ev i ew

Chauvin et al.
Complex Genitourinary Abnormalities on Fetal MRI

Pediatric Imaging
Review

Complex Genitourinary
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Abnormalities on Fetal MRI:

Imaging Findings and Approach
to Diagnosis
Nancy A. Chauvin1 OBJECTIVE. The objective of this article is to present the fetal MRI patterns of complex
Monica Epelman genitourinary abnormalities including epispadias-exstrophy complex, cloacal malformation,
Teresa Victoria urogenital sinus anomaly, posterior urethral valves, and other causes that result in lower uri-
Ann M. Johnson nary tract dilatation without oligohydramnios. Relevant embryology will be reviewed, and
practical points will be provided that can aid in interpretation.
Chauvin NA, Epelman M, Victoria T, Johnson AM CONCLUSION. Complex genitourinary abnormalities have recognizable imaging find-
ings on fetal MRI. Imaging findings may be subtle; a high index of suspicion and a systematic
checklist are useful for accurate diagnosis. Familiarity with fetal MRI patterns of complex
genitourinary abnormalities is crucial for making more precise diagnoses that will likely im-
pact pregnancy management, counseling, and postnatal treatment.

Keywords: bladder exstrophy, cloacal exstrophy, cloacal
malformation, fetal imaging, genitourinary abnormalities,
genitourinary sinus, posterior urethral valves  In our practice, the most common fetal uro-
DOI:10.2214/AJR.11.7761
Received August 25, 2011; accepted after revision
December 8, 2011.
1
All authors: Department of Radiology, The Children’s
Hospital of Philadelphia, 34th St and Civic Center Blvd,
Philadelphia, PA 19104-4399. Address correspondence
to N. A. Chauvin (chauvinn@email.chop.edu).
CME
This article is available for CME credit.
WEB
This is a Web exclusive article.
AJR 2012; 199:W222–W231
0361–803X/12/1992–W222
© American Roentgen Ray Society
C
ongenital genitourinary abnormal-
ities are common, accounting for
14–40% of abnormalities detected
on prenatal sonography [1]. Mal-
formations of the fetal urinary tract encompass
a broad spectrum of disease from mild, of mi-
nor clinical significance, to severe anomalies
that may threaten the viability of the pregnancy
or require intrauterine or early neonatal inter-
vention. Complex genitourinary malformations
may be lethal if they result in oligohydramnios
and severe pulmonary hypoplasia [2]. Other
malformations may not be lethal but may cause
high and long-term morbidity.
logic abnormalities on fetal MRI are pelviec-
tasis, ureteropelvic junction (UPJ) obstruction,
posterior urethral valves (PUVs), and duplicat-
ed collecting systems. Other complex geni-
tourinary abnormalities such as cloacal exstro-
phy, bladder exstrophy, and cloacal dysgenesis
are less common. Accurate characterization of
these abnormalities depends on familiarity
with patterns of malformations on MRI and
a high clinical suspicion. Prenatal imaging
and diagnosis enable the clinician to proper-
ly counsel families and propose pregnancy and
delivery management plans. If cesarean deliv-
ery is advisable, delivery can be planned at a
tertiary care center with involvement of a mul-
tidisciplinary team. In addition, imaging often
serves as a road map for potential prenatal and
postnatal surgical interventions [3].
MRI is frequently used as an adjunct to ul-
trasound for the characterization of fetal geni-
tourinary abnormalities. Although ultrasound
is the reference standard for fetal evaluation,
certain factors may limit the assessment. MRI
is a useful modality because it is not limited
by amniotic fluid volume, maternal body hab-
itus, or fetal position [4]. MRI provides high-
quality fetal images with excellent spatial res-
olution and has high T2 contrast between fluid
and solid tissue [5]. In addition, fetal anatomy
is not obscured by maternal bowel gas or pel-
vic bony structures [6].
MRI Assessment of the Healthy Fetus
The pregnant patient is usually scanned in
the supine position; however, during the third
trimester, imaging the pregnant patient in a
left lateral decubitus position may be help-
ful to avoid maternal inferior vena cava com-
pression from the gravid uterus. Imaging is
performed at 1.5 T. A body phased-array coil
is wrapped around the mother’s abdomen. In
our practice, the initial images include large-
FOV orthogonal sagittal and coronal images
with respect to the mother. These initial im-
ages provide an overall view of the fetus and
allow determination of fetal situs. The cervix
is included in these sequences to determine
length and evaluate for competence. The re-
maining sequences are tailored to evaluate
the fetus and are obtained in 3- to 4-mm-
thick contiguous slices [7].

W222 AJR:199, August 2012

 Complex Genitourinary Abnormalities on Fetal MRI

The standard MR protocol for fetal im-
aging at our institution includes T2-weight-
ed HASTE imaging, T2-weighted fast imag-
ing with steady-state free procession (FISP),
echo-planar imaging (EPI), and T1-weight-
ed FLASH imaging. HASTE, a black-blood
sequence, is our primary imaging sequence
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umbilical (superior vesical) arteries can be in-
dentified on either side of the bladder on axial
or coronal images and appear as hypointense
flow voids on T2-weighted and HASTE imag-
es (Fig. 1A). Identification of the paravesical
arteries is important to differentiate the blad-
der from other cystic structures within the
signal and the anteroposterior renal pelvis di-
ameter is best measured in the axial plane. Af-
ter 22 weeks’ gestation, an anteroposterior re-
nal pelvis diameter of greater than 7 mm may
be abnormal [12]. The course of the ureters is
best seen on coronal imaging. A thin rim of in-
creased T2 signal intensity, which represents

because it provides fast images with fine an-
atomic detail. The true FISP sequence is a
white-blood gradient-echo sequence that of-
fers high tissue contrast and enables evalua-
tion of the vasculature. T1-weighted imaging
enables superior depiction of hemorrhage,
liver, thyroid, and meconium. In our institu-
tion, a large tertiary care facility, MRI is usu-
ally performed in conjunction with a third-
level obstetric ultrasound examination. Our
patients are generally more than 18 weeks’
gestation, with most studies being acquired
between 20 and 26 weeks’ gestation.
Ultrasound can depict a fetal bladder as
early as 10 weeks’ gestation with the onset
of fetal urine production. Before 8–10 weeks’
gestation, amniotic fluid is the primary dialy-
sate of fetal blood across the permeable fetal
skin. By 12 weeks, a bladder should be visu-
alized in all fetuses [8]. The normal bladder
voids regularly and cycles approximately ev-
ery 55–155 minutes; however, the fetal blad-
der is never completely empty and always
contains a small residual volume [9, 10].
On fluid-sensitive sequences, the bladder
appears as a round or ovoid structure arising
from the pelvis with uniform high signal. The
pelvis. The bladder wall should be circumfer-
entially smooth and uniform in thickness. Ac-
cording to established ultrasound criteria, the
normal bladder wall should be no thicker than
3 mm [11]. On MRI, the thickness of the blad-
der wall is best evaluated on a true axial or
sagittal plane with respect to the bladder.
A bladder may become distended for two
main reasons: obstruction to the flow of
urine because of maldevelopment of the ure-
thra or nonobstructive causes, with complex
underlying abnormalities including reflux
and neurogenic or myopathic causes. It is im-
portant to distinguish gross bladder disten-
tion from other pelvic cystic structures [10].
Evaluation of the size of the bladder and ob-
servation of bladder emptying are important
in the assessment of the fetus.
The kidneys should be carefully evaluat-
ed for size, the presence of dysplastic chang-
es (usually inferred by the presence of paren-
chymal cysts), and pelviectasis or ureterectasis.
The kidneys can be identified in a characteris-
tic paraspinal location within the upper abdo-
men and are seen as ovoid structures with in-
termediate signal on T2-weighted sequences.
The renal collecting systems are of increased
perirenal fat, is seen surrounding the kidneys
and should not be confused with perineph-
ric fluid (Fig. 1B). On T2 images, the adre-
nal gland can be visualized as a low-signal cap
located within the suprarenal fossa. The kid-
neys can occasionally be difficult to differenti-
ate from surrounding bowel signal, particularly
early in the second trimester. If a kidney cannot
be clearly identified in the renal fossa, a dedi-
cated search for an ectopic pelvic kidney, cross-
fused ectopia, or horseshoe kidney should be
undertaken. Small dysplastic kidneys and ol-
igohydramnios carry a poor prognosis [10].
The earlier in gestation that oligohydramnios
is present, the worse the prognosis because of
inadequate lung development. Early oligohy-
dramnios leads to pulmonary hypoplasia in ap-
proximately 80–85% of cases. A main goal of
in utero treatments is to preserve amniotic flu-
id volume to assist pulmonary maturation [10].
Posterior to the bladder, a normal recto-
sigmoid colon should be seen. Sagittal T1-
weighted images are helpful to depict the
presence of hyperintense meconium within
the distal bowel (Fig. 1C). The production of
meconium starts in the 13th gestational week
and reaches the anal canal at about week 20.

A B C
Fig. 1—MRI of healthy male fetus at 28 weeks’ gestation.
A, Axial T2 image depicts normal bladder (B) located within pelvis with laterally positioned umbilical arteries (arrowheads). Bladder contains hyperintense T2 signal.
There is appropriate amount of amniotic fluid for gestational age.
B, Coronal T2 image shows normal kidneys (arrows) in expected anatomic location. Pelvicaliceal system is not dilated and ureters are not seen. Normal perirenal fat
(asterisks) is present.
C, Sagittal T1-weighted image shows normal bladder with hypointense fluid (asterisk). Posterior to bladder, normal hyperintense meconium signal (arrow) is seen
extending below level of bladder base.

AJR:199, August 2012 W223


Therefore, hyperintense meconium on T1 im-
ages can be reliably seen within the rectum af-
ter the 20th gestational week [2, 13].
Determination of sex in a fetus with com-
plex genitourinary abnormalities can be use-
ful for establishing a differential diagno-
sis. Abnormalities such as triad syndrome
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and PUVs occur primarily in male fetuses.
Megacystis-microcolon–intestinal hypoperi-
stalsis syndrome and cloacal malformations
occur almost exclusively in females [14, 15].
The fetal musculoskeletal system can be
readily evaluated with EPI sequences because
they show bones as hypointense structures
and also show the hyperintense cartilaginous
epiphyses [16]. EPI allows excellent evalu-
ation of the axial and appendicular skeleton.
The pubic bones ossify between 18 and 20
weeks’ gestation [17, 18]. From our experi-
ence, with a true axial plane and 3-mm slice
thickness, the pubic bones and symphysis pu-
bis can be adequately evaluated by 20 weeks
(Fig. 2). Evaluation of the spine and extremi-
ties is important for depiction of limb and ver-
tebral anomalies.
Epispadias-Exstrophy Complex
Bladder Exstrophy
Bladder exstrophy occurs in from 1 per
10,000 to 1 per 50,000 live births. This en-
tity is more common in males, with a male-
female ratio of 2.3–5:1 [8]. Pathogenesis
begins within the fourth week of gestation
when mesenchymal cells fail to migrate be-
tween the ectoderm of the abdomen and the
cloaca. No muscle or connective tissue forms
over the anterior abdominal wall and a dis-
crete bladder is not formed [8]. Fetal urine is
excreted directly into the amniotic fluid [19].
Several MR features can aid in the prena-
tal diagnosis of bladder exstrophy. In blad-
der exstrophy, a normal bladder is not iden-
tified. Instead, an infraumbilical abdominal
wall mass is present, often with low insertion
of the umbilical cord (Fig. 3A). The kidneys
and ureters are usually normal, giving rise to
an appropriate amount of amniotic fluid and
normal lung development. T1 hyperintense
meconium signal is usually seen within the
rectum, suggesting a normal anus and hind-
gut, as compared with other complex genito-
urinary anomalies such as cloacal exstrophy
[20] (Fig. 3B). Because of the failure of the
anterior abdominal wall structures to form
normally, there is diastasis of the pubic sym-
physis. Associated defects involving the kid-
neys, spine, and lower extremities are gener-
ally absent [19].
W224 AJR:199, August 2012
Chauvin et al.
Fig. 2—Axial echo-planar image of pelvis at level
of pubic symphysis of male fetus at 32 weeks’
gestation. White arrowheads point to hypointense
ossified pubic rami; hyperintense cartilage (black
arrowheads) is seen medially. Just lateral to pubic
bones are hyperintense triradiate cartilage, labrum,
and cartilaginous femoral heads (F). Bladder (B) is
appropriately positioned posterior to symphysis
pubis. Sacrum is seen posterior to bladder.
Entities that are associated with an an-
terior abdominal wall mass that may mim-
ic bladder exstrophy include gastroschisis,
omphalocele, and cloacal exstrophy. In gas-
troschisis and omphalocele, a normal blad-
der should be present. The normal bladder is
absent in cloacal exstrophy; concurrent bow-
el and spine abnormalities are usually pres-
ent. The key finding in bladder exstrophy is
an absent bladder and infraumbilical abdom-
inal wall mass. This should not be confused
with isolated complete epispadias. A bladder
is not seen in complete epispadias because
patients lack the sphincteric mechanism to
fill and store urine in the bladder [19]. There
is no lower anterior abdominal wall bulge as-
sociated with isolated complete epispadias.
Once the diagnosis is made, appropriate
prenatal counseling should be conducted. Ar-
rangements should be made for delivery at
a tertiary care center. A primary goal in the
postnatal management of bladder exstrophy
is early closure of the bladder (Fig. 3C). Op-
timally, surgery should be performed within
the first 48 hours of life. If bladder exstrophy
is associated with complete epispadias, recon-
struction of the genitalia must be performed.
Female genital reconstruction is often per-
formed concurrently with initial bladder clo-
sure. Male genital reconstruction is often
delayed to allow penile growth. There is sig-
nificant morbidity associated in both sexes in-
cluding incontinence and poor fertility.
Cloacal Exstrophy
Cloacal exstrophy is also known as the om-
phalocele, exstrophy, imperforate anus, and
spinal defects (OEIS) complex. This complex
association of malformations occurs in from
1 per 250,000 to 1 per 400,000 live births [9]
and the cause is unknown. Both sexes are af-
fected equally and it is more commonly seen
in multiple gestations [21]. Although cloacal
exstrophy is associated with high morbidity,
advancements in medical technology have
dramatically improved survival. It is estimat-
ed that infants born with cloacal exstrophy
have a 90% survival rate [9].
The embryologic defect is failure of cloa-
cal separation that leads to a persistent cloaca,
rudimentary hindgut, and imperforate anus.
The ureters, ileum, and rudimentary hindgut
will open into a common reservoir. This de-
fect prevents normal anterior abdominal wall
closure. The cloacal membrane becomes un-
stable and ruptures around the fifth embryon-
ic week, which exposes both the bladder and
the rectum. This anomalous sequence leads
to characteristic bowel and bladder exstrophy.
The genitalia often appear “duplicated” as a
result of failure of the normal embryologic fu-
sion (Fig. 4). Associated lumbosacral verte-
bral anomalies may be present [21].
MRI is a useful adjunct to ultrasound in
the setting of suspected cloacal exstrophy. A
systematic, dedicated organ-based search is
important to detect subtle abnormalities. The
presence of multiple fetal anomalies com-
bined with a midline ventral defect should
raise the suspicion of cloacal exstrophy [21].
The main diagnostic criterion is an absent
bladder with an inferior-anterior abdominal
wall mass (omphalocele) seen in the con-
text of other anomalies such as lumbosacral
anomalies, limb defects, renal anomalies, as-
cites, absence of normal meconium signal
within the rectum, or widened pubis [8] (Fig.
5A). An omphalocele is a ventral wall defect
in which a portion of the abdominal organs
herniates into the base of the umbilical cord.
The herniated viscera—which can range
from only the liver or bowel to large defects
containing most of the abdominal organs—
are covered by a membrane [3]. MRI is ex-
cellent in depicting the extent of abdominal
organ involvement. T1-weighted imaging
aids in evaluating the portion of herniated
liver and also helps to characterize the meco-
nium signal within the distal bowel. The ex-
tent of herniated bowel loops not containing
meconium can be seen on T2-weighted axial
and sagittal images. No bladder is identified
 Complex Genitourinary Abnormalities on Fetal MRI

stoma (Fig. 5D). Fecal and urinary inconti-

nence is prevalent. Abnormalities of external
genitalia that necessitate reconstructive sur-
gery and attention to sex identity issues are
frequently present in males [8].

Cloacal Dysgenesis Including

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Persistent Urogenital Sinus

Cloacal dysgenesis comprises a group of
malformations characterized by abnormal
partitioning of the urinary, genital, and intes-
tinal tracts. These malformations range from
an ectopic, anteriorly positioned anus to a
frank communication between the urinary,
genital, and intestinal tracts that empty into
a common channel, the cloaca. In a complete
cloacal malformation, a common single per-
ineal opening is present [3]. Complete cloa-
cal anomalies are seen exclusively in pheno-
typic females and occur in from 1 per 40,000
to 1 per 50,000 newborns [14]. In persistent
urogenital sinus, there is absence of the ano-
rectal defect but a single external orifice for
A B the bladder and vagina. A persistent urogeni-
tal sinus may be seen in the setting of female
pseudohermaphroditism due to congenital
adrenal hyperplasia. Adequate surgical plan-
ning requires accurate anatomic assessment.
Improved prognosis has prompted attempts
at prenatal diagnosis [3].
In utero, the cloaca is a normal conflu-
ence that persists until about 5 weeks’ ges-
tation. The cloacal membrane partitions to
form the urogenital sinus anteriorly and a
separate hindgut posteriorly [3]. A persis-
tent cloaca results when the urogenital sep-
tum fails to join the cloacal membrane dur-
ing weeks 4–6 of gestation. This results in a
C persistent communication between the rec-
tum and the urogenital sinus. Often, there
is disruption of the normal mesonephric
Fig. 3—MRI of bladder exstrophy.
A, Male fetus at 29 weeks’ gestation. Sagittal T2 image shows infraumbilical abdominal wall defect with low
duct development that leads to duplication
insertion of umbilical cord (arrow). Low abdominal wall defect with mass (arrowhead) represents exstrophied or agenesis of the genital structures and re-
pelvic contents. Normal bladder is not identified. Normal amount of amniotic fluid is seen. nal anomalies [22]. Development may be
B, Male fetus at 29 weeks’ gestation. Sagittal T1-weighted image shows normal meconium signal in rectum arrested at any stage, giving rise to a wide
(arrow) extending below expected position of urinary bladder. Normal appearance of meconium within rectum
shows that hindgut is normal. spectrum of abnormalities involving the
C, Postnatal photograph shows abdominal wall defect (long arrow) and abnormal male genitalia (short arrow). genitourinary tract, rectum, perineum, and
Note that infraumbilical mass and absent bladder without associated spine and rectal abnormalities favor external genitalia [3]. Cloacal malforma-
bladder exstrophy over cloacal exstrophy.
tions are classified by the level of communi-
cation between the three systems [14].
within the pelvis, and pubic diastasis with in- In 70% of patients with cloacal exstrophy, The dilated cloaca will result in a cystic
creased lateral splaying of the iliac crests is spinal defects such as spina bifida, myelo- pelvic mass. Stenotic cloaca or long-channel
present and is usually more severe than that cystocele, or kyphoscoliosis are present (Fig. cloaca will obstruct the flow of fetal urine into
associated with bladder exstrophy. 5C). There is significant morbidity associat- the amniotic fluid. Instead, urine flows from
Concurrent renal anomalies are present in ed with cloacal exstrophy. Extensive surgery the bladder into the vagina and uterus. Urine
approximately 60% of patients and include is required to close the bladder, anterior ab- can then exit through the fallopian tubes into
renal agenesis, hydronephrosis, multicystic dominal wall, and exstrophied bowel. Most the peritoneal cavity causing fetal urine asci-
dysplastic kidney, or hydroureter (Fig. 5B). patients require a permanent intestinal end tes. Through a rectovaginal fistula, meconi-

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 Chauvin et al.

ent causes, when it is seen in conjunction with
a multiloculated cystic pelvic structure dur-
ing the second trimester, a cloacal anomaly
should be considered [22].
Prenatal MR features of cloacal malforma-
tions vary with the type of malformation and
the gestational age at diagnosis. The depiction
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el of the pelvic cystic mass supports the di-
agnosis of a urogenital sinus or hydrocolpos
or hydrometrocolpos, but a very small com-
munication between the rectum and urogeni-
tal system may not be evident on MRI. Fetal
ascites is common and will appear as homo-
geneously increased T2 signal similar to am-

of a multicystic pelvis mass usually composed niotic fluid. In our experience, the presence
of a dilated bladder and hydrocolpos or hydro- of ascites offers high soft-tissue contrast and
metrocolpos, fetal ascites, and hydronephro- can further aid in the evaluation of anatomic
sis should lead to the diagnosis (Figs. 6A and anomalies. Hyperintense T1 signal should be
6B). The fetal perineum and external genita- seen within the bowel; however, the presence
lia should be evaluated; however, they may of meconium signal within the rectum is vari-
be difficult to evaluate because of expected able depending on the presence or absence
anomalies. An enlarged clitoris may mimic of a fistula and the degree of communication
Fig. 4—Postnatal photograph of female at day 0 of life the appearance of a penile shaft [6]. Hyper- (Fig. 6C). The amniotic fluid volume is gener-
with cloacal exstrophy shows omphalocele (arrow), intense T1 signal should be seen within the ally normal to decreased. Depending on the
hemibladders (B), labia majora (L), and colon (C). bowel; however, the presence of meconium degree of oligohydramnios, the lung volumes
signal within the rectum is variable depend- may be decreased. Overall, the fetus may be
um may move into the vagina and will even- ing on the presence or absence of a fistula and small for gestational age. Other organ systems
tually obstruct the fallopian tubes, resulting the degree of communication. Normal me- may also be involved because a cloacal anom-
in hydrometrocolpos or hydrocolpos [23]. In- conium signal seen extending below the lev- aly may appear as part of a broad spectrum
traperitoneal calcifications from meconium
peritonitis without intestinal perforation have
been reported because of the reflux of meco-
nium from the fallopian tubes, into the perito-
neal cavity [24]. Peritoneal calcifications are
more easily depicted on ultrasound. During
the third trimester, the combination of fetal
urine and meconium may lead to irritation
of the fallopian tubes and cause inflamma-
tion and obstruction of the tube. The dilated
pelvic cystic mass can eventually cause ure-
teral obstruction, leading to hydronephrosis
[24]. Although fetal ascites has many differ-

Fig. 5—MRI of cloacal exstrophy and solitary kidney.

A and B, Female fetus at 22 weeks’ gestation. Midline
sagittal (A) and axial (B) T2 images show anterior
abdominal wall defect with exstrophied bowel
(arrowhead). Liver (arrows) is present within upper
abdomen. Small amount of herniated liver is seen A B
superior and lateral to herniated bowel. Bladder is
absent and there is normal amount of amniotic fluid.
Solitary kidney (K, B) is located in normal paraspinal
location.
C, Female fetus at 22 weeks’ gestation. Axial echo-
planar image of pelvis shows abnormal splaying of
hypointense iliac bones (white arrowheads). Normal
pubic symphysis is not present; instead, exstrophied
bowel is seen ventrally. Femurs (F) are positioned
laterally. Black arrowhead denotes hyperintense
cartilaginous structures of hip. Findings are subtle
and become more apparent when comparison is
made with normal appearance of fetal pelvic bones
in Figure 2.
D, Anteroposterior radiograph of pelvis at 22
months of age shows typical appearance of cloacal
exstrophy: diastasis of symphysis pubis, sacral
anomalies, and enteric ostomy site in left lower
quadrant (arrow). Note that identification of low
omphalocele should prompt search for associated
anomalies.
C D

W226 AJR:199, August 2012

 Complex Genitourinary Abnormalities on Fetal MRI

of abnormalities, sometimes overlapping with
VACTERL (vertebral, anal, cardiac, tracheal,
esophageal, renal, limb) association or cau-
dal dysgenesis [3]. Subtle vertebral anomalies
(e.g., hemivertebra, short or absent sacrum,
tethered cord) and cardiac defects should be
searched for but may be difficult to diagnose
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should be confirmed. A single perineal open-
ing is typical, but accessory perineal open-
ings may be present. Genitography, vaginos-
copy, or cystoscopy is generally performed
to evaluate the level of communication.
Anomalies such as bicornuate uteri, vaginal
atresia, or duplicated vaginas may be present
Lower Urinary Tract Obstruction
Patterns
Lower Urinary Tract Obstruction
Fetal lower urinary tract obstruction (LUTO)
is attributable to a variety of pathologic pro-
cesses that can affect the urethra such as PUVs,
urethral stenosis, or urethral atresia [24]. LUTO

prenatally [6].
Postnatally, newborn girls with imper-
forate anus and a single perineal opening
should be considered to have a cloacal mal-
formation [14]. There may be virilization of
the external genitalia with clitoral enlarge-
ment (Fig. 6D). The precise cause of clitoral
enlargement is unknown, but it is believed to
be secondary to a fundamental derangement
of urogenital development and generally nor-
malizes spontaneously. A female karyotype
[14, 22]. Imaging of the spine, pelvis, spinal
cord, and upper urinary tract should be per-
formed to evaluate for additional anomalies
[6]. Immediate postnatal treatment involves
decompression of the urinary tract and ear-
ly diverting colostomy. Correction of severe
vesicoureteral reflux is often performed.
The definitive repair involves separation of
the urinary tract, rectum, and vagina. Each
channel is brought to the perineum in a more
normal fashion [14].
has high mortality and morbidity when it is as-
sociated with cystic renal dysplasia and abnor-
mal renal function. Approximately 60% of all
pediatric renal transplants are performed sec-
ondary to renal failure caused by LUTO [25].
Progressive fetal renal compromise can lead
to severe oligohydramnios, predisposing the
fetus to pulmonary hypoplasia and positional
limb deformities. PUV accounts for approxi-
mately half of LUTO cases [25]. PUVs occur
in 1 per 8000 to 1 per 25,000 live births. The

A B C

Fig. 6—Urogenital sinus.

A, Female fetus at 27 weeks’ gestation. Sagittal T2 image shows multicystic
pelvic mass composed of bladder anteriorly (arrow) and dilated vagina posteriorly
(arrowheads), marked ascites (A), and skin edema.
B, Female fetus at 27 weeks’ gestation. On sagittal T1-weighted image, small
amount of hyperintense signal in pelvis (arrow) corresponds to meconium within
anteriorly positioned, hypoplastic rectum noted at autopsy.
C, Female fetus at 27 weeks’ gestation. Bilateral hydronephrosis is noted on
coronal T2 image. Right kidney (left K ) shows mild-to-moderate pelvocaliectasis.
There is severe dilation of left renal pelvis (right K ).
D, Autopsy image at 32 weeks’ gestation. There is virilization of clitoris (long
arrow). Anteriorly positioned rectum (short arrow) is present just posterior to
urogenital orifice. Urogenitorectal fistula was not present.
D

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 Chauvin et al.
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A B C
Fig. 7—Male fetus at 21 weeks’ gestation with lower urinary tract obstruction (LUTO).
A, Sagittal T2 image shows marked dilatation of urinary bladder and prostatic urethra (arrow) with oligohydramnios. There is diffuse thickening of bladder wall. Amniotic
fluid volume is low. In addition, thorax is small because of pulmonary hypoplasia.
B, Axial T2 image shows marked dilatation of urinary bladder. There is bilateral pelviectasis (arrowheads) with abnormal appearance of renal parenchyma with cortical
thinning of both kidneys.
C, Coronal T2 image shows bilateral dilated and tortuous ureters (black arrows). There is bilateral pelvicaliceal dilation with thinning of renal parenchyma (white arrows).
Note that dilated bladder in setting of oligohydramnios suggests LUTO.

cause is unknown; however, one hypothesis is
that the valves result from abnormal insertion
of the mesonephric ducts into the fetal cloaca
[8]. PUVs are usually suggested during the
second trimester, whereas complete bladder
outflow obstruction (urethral atresia) and ure-
thral stenosis are more likely to present within
the first or early second trimester. Complete
bladder outflow obstruction is associated with
a very poor prognosis.
It is difficult to identify the exact cause of
urethral obstruction prenatally [26]. In our
practice, all fetuses with signs of urethral ob-
struction are grouped under the term “lower
urinary tract obstruction” with a description
of the supporting features. Definitive diagno-
sis of the entity is made by postnatal voiding
cystourethrography and cystourethroscopy.
The focus of prenatal imaging is to address
the prognosis of the fetus to ensure proper
counseling and to help identify patients that
might benefit from intrauterine interventions
such as vesicoamniotic shunting. LUTO
prognosis depends on fetal sex, gestational
age when the obstruction manifests, the de-
gree of oligohydramnios, and the presence
of renal cysts. Poor outcome is predicted by
earlier presentation.
MRI enables evaluation of the amount of
amniotic fluid, the appearance of the renal
parenchyma, the size of the kidneys, and the
degree of ureteral and bladder distention.
Imaging characteristics of LUTO include a
large, thick-walled bladder often filling the
entire abdomen. Depending on the degree of
obstruction and renal function, the amniot-
ic fluid may vary from normal to markedly
decreased. If oligohydramnios is present, the
thorax often appears small with hypoplas-
tic lungs (Fig. 7A). The kidneys can appear
normal or dysplastic (Fig. 7B). The appear-
ance of macro- or microcystic change with-
in the renal parenchyma is associated with
a high rate of renal dysplasia and impair-
ment at birth. However, the inability to de-
pict cysts does not predict that renal disease
is not present [25]. Often, the ureters will be
dilated and tortuous (Fig. 7C).
Selected cases of LUTO may benefit
from in utero placement of a vesicoamniot-
ic shunting to prevent pulmonary hypopla-
sia and preserve renal function. Biard et al.
[27] reported a series of 20 cases in which
vesicoamniotic shunting was performed in
the setting of documented urethral obstruc-
tion, oligo- or anhydramnios, normal male
karyotype, good or borderline urine profile
(on the basis of serial bladder aspiration),
and absence of other abnormalities. They
reported 91% survival at 1 year with one
third of the patients requiring dialysis and
transplantation. It is important to note that
vesicoamniotic shunting remains a contro-
versial procedure with a high rate of shunt
malfunction despite adequate placement [11,
28, 29]. Replacement of the shunt can be as-
sociated with additional risks, such as fetal
death, chorioamnionitis, premature rupture
of membranes, and miscarriage or preterm
delivery, for an estimated total perinatal loss
rate of 4% [30]. Definitive in utero repair of
PUVs with fetal cystoscopy, although not the
standard of care, has also been successful
and may emerge as a treatment option for se-
vere urinary tract obstruction [31].
The postnatal management of PUV is
immediate catheter placement for bladder
drainage with cystoscopic valve ablation for
definitive treatment. Outcome parameters
are renal function and continence. In a co-
hort of patients with a history of PUVs, long-
term follow-up of renal function at the age of
20 years revealed end-stage renal disease in
38% and chronic renal failure in 51% [32].
Triad syndrome (i.e., prune belly syn-
drome, Eagle-Barrett syndrome) occurs in 1
per 50,000 live births. Triad syndrome is al-
most exclusively found in males, with fewer
than 5% of cases occurring in females [33].
The triad of symptoms includes undescend-
ed testes; abnormal urinary tract character-
ized by dilated tortuous ureters and renal
dysmorphism; and abnormally lax, deficient
abdominal wall musculature [1]. Most cases
are sporadic, with rarely reported cases of fa-
milial occurrence.

W228 AJR:199, August 2012

 Complex Genitourinary Abnormalities on Fetal MRI

culoskeletal, and cardiovascular anomalies can

be seen with triad syndrome; cardiopulmonary
issues are the most life-threatening [8].
The diagnosis of triad syndrome can be
suggested in a fetus with an enlarged, thick-
walled bladder; dilated ureters; and a normal
or decreased volume of amniotic fluid (Fig.
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8). Abdominal wall abnormalities, such as

muscle hypoplasia, are difficult to detect on
MRI; however, there may be gross abdomi-
nal distention due to the lax anterior abdo-
men and markedly dilated bladder. Iden-
tifying the fetus as male can support the
diagnosis. Additionally, a small thorax with
hypoplastic lungs is commonly seen.
A B Megacystis-Microcolon–Intestinal
Hypoperistalsis Syndrome
Initially described in 1970, megacystis-
microcolon–intestinal hypoperistalsis (MMIH)
syndrome is a rare congenital syndrome that
occurs predominantly in females [15]. This
syndrome is characterized by a massively di-
lated urinary bladder, incomplete intestinal
rotation, microcolon, and small bowel dila-
tation with hypoperistalsis throughout the in-
testinal tract. Decreased muscle tone is pres-
ent in the intestinal and urinary tracts, but
the specific cause is unknown. On histolog-
ic evaluation, normal ganglionic cells and
nerves are present. Typical prenatal findings
have been described to include megacystis
and hydronephrosis with the absence of oli-
gohydramnios [34].
C D Prenatal MRI can help suggest the diagnosis
Fig. 8—Triad syndrome. of this rare entity. A distended urinary bladder
A, Male fetus at 20 weeks’ gestation. Sagittal T2-weighted image shows marked bladder (B) enlargement is present with bilateral hydronephrosis. There
but normal volume of amniotic fluid. Lungs are compressed by massively distended abdomen. Bilateral is no evidence to suggest bladder obstruction
hydronephrosis is present; pelvocaliectasis (arrow) and hydroureter (arrowheads) are visible.
B, Male fetus at 20 weeks’ gestation. Axial T2-weighted image at level of lower abdomen shows bladder
because the renal parenchymal cortex is main-
distention (B) with bilateral pelvocaliectasis (arrows). tained and there is a normal or increased amount
C, Postnatal radiograph at day 0 of life shows characteristic bulging flanks due to anterior abdominal wall laxity. of amniotic fluid. Documentation of sex is im-
Lung volumes are decreased. portant because this entity is seen almost exclu-
D, Lateral voiding cystourethrogram shows large bladder capacity with typical dilation of posterior urethra in
funnellike configuration (arrow). Contrast opacification of prostatic utricle (arrowhead) is common finding in sively in females, thus helping to further differ-
triad syndrome. entiate MMIH syndrome from other forms of
LUTO [35]. The posterior urethra is not dilated,
The anterior abdominal wall muscles are ab- of patients. Urethral stenosis or hypoplasia is which will also aid in differentiating MMIH
sent in 30% of patients with triad syndrome and present in all females with triad syndrome, thus syndrome from PUVs (Fig. 9A). On prena-
are replaced by dense collagen tissue, which suggesting that urethral obstruction is the un- tal ultrasound, increased echogenicity of the
gives rise to a wrinkled, prunelike appearance. derlying cause [33]. Triad syndrome has been bowel may be seen. Bowel distention may not
In 70% of the cases, the abdominal wall tissues described in the setting of normal and de- be seen on prenatal ultrasound because of the
are hypoplastic. The genitourinary anomalies creased amniotic fluid volumes [23, 28]. Oli- technical limitations of ultrasound in the set-
consist of renal hypoplasia, dysplasia, ureteral gohydramnios can be seen when the relation- ting of a massively distended bladder. Pa-
dilation with thick walls, megacystis, dilated ship between the angle of the bladder neck and tients with MMIH syndrome who undergo ves-
prostatic urethra, and prostatic hypoplasia. The urethra changes with the growth of the ana- icocentesis or vesicoamniotic shunting show
urinary bladder is enlarged and is often thick- tomic pelvis. This change in urethral course is bowel distention after the bladder is decom-
ened; between 25% and 50% of patients have postulated to cause distortion of the hypoplas- pressed. This finding further helps to confirm
a patent urachus or urachal diverticulum. Vesi- tic urethra that leads to high-grade obstruction. the antenatal diagnosis; however, this invasive
coureteral reflux occurs in approximately 75% A variety of respiratory, gastrointestinal, mus- procedure is likely unnecessary because nei-

AJR:199, August 2012 W229

 Chauvin et al.
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A B C
Fig. 9—Megacystis-microcolon–intestinal hypoperistalsis (MMIH) syndrome in female fetus at 26 weeks’ gestation.
A, Sagittal T2 image shows dilated bladder (B) and normal volume of amniotic fluid. Posterior urethra is not dilated.
B, Sagittal T1 image shows tiny amount of meconium signal (arrow) in rectum suggesting hypoplasia. Normal hyperintense T1 signal is seen within liver (L).
C, Postnatal image from contrast enema shows malrotated microcolon with dilatation of proximal bowel. Patient was initially dependent on total parenteral nutrition. At
2 years 6 months old, she underwent small bowel, liver, and pancreas transplant. She is currently 3 years old and is thriving. Note that dilated bladder in female fetus with
abnormal meconium should raise concern for MMIH syndrome.

ther renal damage nor severe oligohydramnios
generally occurs [34]. MRI will show a small-
caliber colon with decreased or absent meco-
nium within the distal colon (Fig. 9B). The
lung volumes are normal.
MMIH syndrome is associated with high
morbidity and mortality. Infants may present
with abdominal distention that may lead to re-
spiratory distress because of poor chest excur-
sion. Radiographs show an absence of gas in the
distal colon or rectum. Contrast enema shows a
malpositioned microcolon with a terminal ile-
um of normal or reduced caliber (Fig. 9C). Sur-
gical exploration will show no mechanical ob-
struction, and the results of intestinal biopsies
will typically show normal ganglionic cells and
nerves. Medical treatments involving parasym-
pathomimetics, gastrointestinal stimulants, and
adrenergic blockers have been tried to over-
come poor gastrointestinal motility; however,
treatment includes total parental nutrition be-
cause oral feeding has not been tolerated. Re-
nal function and lung development are normal.
Investigators have reported that 80% of infants
die within the first year and 90% die within the
first 2 years [34]. With improved prenatal diag-
nosis and understanding of this rare entity, the
survival rate may improve.
Conclusions
Complex genitourinary anomalies have
predictable patterns of abnormal findings
on fetal MRI; however, the findings may be
subtle. A high index of suspicion and a sys-
tematic checklist are useful for accurate di-
agnosis (Appendix 1). Nonvisualization of
a normal bladder may be the first clue to a
complex genitourinary abnormality. An ab-
sent bladder, lower abdominal wall defect
with a normal meconium pattern, and absent
spine abnormalities favor bladder exstrophy
over cloacal exstrophy. Evaluation of T1 me-
conium signal patterns in the rectum may be
useful in the diagnostic process. Abnormal
patterns are seen in cloacal exstrophy, cloa-
cal malformations with colonic fistula, and
MMIH syndrome. In entities such as bladder
exstrophy, cloacal malformations without
colonic fistula, and triad syndromes, normal
hyperintense T1 meconium should be visu-
alized within the rectum.
Evaluation of bladder distention and evalu-
ation of ureterectasis are key tools. Lower uri-
nary tract dilatation in a female fetus should
raise concern for cloacal malformation and
MMIH syndrome. Significant urinary tract
dilation without oligohydramnios suggests a
nonobstructive abnormality such as vesico-
ureteral reflux, triad syndrome, or MMIH syn-
drome. Oligohydramnios with significant uri-
nary tract dilation should raise concern for
PUV in males and urethral stenosis or agen-
esis; however, amniotic fluid may be normal
with incomplete obstruction or early in gesta-
tion. Familiarity with MRI patterns of com-
plex fetal genitourinary abnormalities is cru-
cial for making more precise diagnoses that
will likely impact pregnancy management,
counseling, and postnatal treatment.
Acknowledgements
We thank Mark P. Johnson, Douglas A.
Canning, and the Department of Pathology
at The Children’s Hospital of Philadelphia for
their help and contributions to this manuscript.
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APPENDIX 1:  Checklist for Assessing the Fetal Genitourinary System on MRI
The fetal MRI assessment of the genitourinary system should include the following:
• Qualitative assessment of amniotic fluid volume
• Size and location of the kidneys
• Presence of dysplastic changes of the kidneys
• Presence of pelviectasis and ureterectasis
• Identification of a normal bladder
• Identification of fetal sex
• Search for low abdominal wall defects
• Meconium pattern in the rectum on T1-weighted images
• Fetal lung volume
• Presence of fetal ascites
• Presence of abnormalities in other organ systems, especially vertebral, cardiac, gastrointestinal, and musculoskeletal

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