European Journal of Radiology 125 (2020) 108859

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European Journal of Radiology

journal homepage: www.elsevier.com/locate/ejrad

Imaging of anorectal malformations in utero T

a b c a a,
L. Rohrer , Y. Vial , S Hanquinet , E. Tenisch , L. Alamo *
a
Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, University Hospital of Lausanne (CHUV) and University of Lausanne, Rue du Bugnon
21, 1011 Lausanne, Switzerland
b
Unit of Obstetrics, Department of Woman, Mother and Child, University Hospital of Lausanne (CHUV) and University of Lausanne, Rue du Bugnon 21, 1011 Lausanne,
Switzerland
c
Unit of Pediatric Radiology, Department of Radiology, University Hospital of Genève (HUG), Rue Gabrielle-Perret-Gentil 4, 1205, Genève, Switzerland

ARTICLE INFO ABSTRACT

Keywords: Purpose: To document the imaging findings suggestive of anorectal malformation (ARMs) on prenatal US and
Anorectal malformation MRI.
Cloaca Methods: Retrospective evaluation of the screening US and prenatal MRI exams of the rectum and ano-perineal
Prenatal US region in normal fetuses and in patients with ARMs.
Prenatal MRI
Results: Examples showing the normal rectal and anoperineal anatomy on prenatal US and MRI exams and the
imaging findings observed in different types of confirmed ARMS.
Conclusions: Prenatal diagnosis of ARMs requires both a systematic evaluation of the fetal pelvis and perineum
and an appropriate knowledge of its suggestive imaging findings.

1. Introduction Persistent cloaca is the most severe form of ARM in females, with a
reported incidence of 1/50000 live births. Girls with persistent cloaca
Anorectal malformations (ARMs) result from the anomalous devel- have a unique and common external perineal opening for the digestive,
opment of the distal bowel secondary to an abnormal separation be- genital and urinary systems. This pathology requires an extremely
tween the uro-genital and the digestive tracts during embryonic life.
They remain a rare pathology with a reported prevalence of 1/2000- Table 1
5000 live births [1–5]. Children with ARMs also have a high incidence Types of ARM with the most frequent associated fistula and therapy of choice
for each type. Based on the Krickenbeck’s classification of 2005 [Ref 8]; M:
of associated multisystemic congenital anomalies, of chromosomal al-
Males, F: Females.
terations like the trisomy’s 13, 18 and 21 and/or of different syn-
dromes, including the VACTERL (acronym of Vertebral, Anal, Cardiac, Type of ARM Therapy
Tracheo-Esophageal, Renal and Limb malformations), the caudal re-
Low-type - Anal stenosis - Perineal anoplasty
gression syndrome and the Currarino Triad, among others [2,3,6,7]. - Imperforate anus without
The presence and severity of associated malformations often determine fistula
the final prognosis of these patients. - Anal agenesis with recto-
The most used classification of ARMs is that of Krickenbeck’s [8]. It perineal fistula (M + F)
- Anal agenesis with recto-
considers the location of the rectal pouch related to the pubo-rectal
vestibular fistula (F)
sling and distinguishes two main types, each of them having different Intermediate- - Anorectal agenesis without - Protective colostomy
prognosis and requiring a different surgical approach. In the low-type high type fistula - Posterior sagittal +/- anterior
ARMs, the rectal pouch is located below the pubo-rectal sling whereas - Rectal atresia laparoscopic surgical
- Anorectal agenesis with approach.
in the intermediate-high type, the pouch is located at the same level or
recto-urethral or recto-vesical
above the sling (Table 1). Most high-type ARMs have a fistula that fistula (M)-
communicates the rectal pouch to the bladder, the urethra or the va- - Persistent cloaca (F)
gina. Low-type ARMs may or not have a fistula, but if present, it usually
connects the rectum to the fetal perineum [8–10].

Corresponding author.
⁎

E-mail addresses: lysiane.rohrer@chuv.ch (L. Rohrer), yvan.vial@chuv.ch (Y. Vial), sylviane.hanquinet-ginter@hcuge.ch (S. Hanquinet),
estelle.tenisch@chuv.ch (E. Tenisch), leonor.alamo@chuv.ch (L. Alamo).

https://doi.org/10.1016/j.ejrad.2020.108859
Received 2 October 2019; Received in revised form 4 December 2019; Accepted 16 January 2020
0720-048X/ © 2020 Elsevier B.V. All rights reserved.
L. Rohrer, et al. European Journal of Radiology 125 (2020) 108859

complex reparative surgery. Levitt and Pena have recently proposed
that recto-vaginal fistula should be considered a as a slight form of
cloaca [9,10].
Despite the extensive use of prenatal screening ultrasound (US)
exams, most ARMs, especially the low-type forms, are still first dis-
covered at birth. The rate of in utero diagnosis in previously published
series is only 16 % [6,11–13]. These data strongly suggest that the fetal
ano-perineal region is not systematically evaluated at US screening
exams and/or that the imaging findings suggestive of ARMs are not
sufficiently identified [12]. Moreover, only a few articles have de-
scribed the findings that could help recognize this pathology on pre-
natal Magnetic Resonance Imaging (MRI) studies. In case of

Fig. 1. Normal rectum on prenatal US and MRI.- The midline sagittal US image (a) in a healthy fetus at the 21th week of gestation (WG) shows a normal diameter of
the sigmoid (white arrow,a), the rectum and the bladder (B). Midline sagittal T1- (a) and T2-WI (b) MRI images in a healthy male fetus at the 34th WG. The protein
rich meconium filling the rectum is homogenously hyperintense on T1- (a) and hypointense on T2-WI (b) MRI images. The distal rectum (white arrows, b–c) is clearly
identifiable below the level of the bladder neck. The diameter of the normal rectum is smaller than that of the bladder (B).

2
L. Rohrer, et al.
echographic suspicion of fetal pathology and for selected cases, MRI
exams are performed from about 20 weeks onwards and allow a de-
tailed evaluation of the fetal anatomy [12–20]. A fetal focused protocol
scan usually includes Single shot fast spin echo T2W-, Steady state fast
precession T2W- and fat suppressed T1W fast spoiled gradient echo
sequences in the axial, coronal and sagittal planes of the fetus.
This pictorial essay describes the normal anatomy of the fetal
rectum and ano-perineal region on prenatal US and MRI studies and the
imaging findings suggestive of ARMs on both methods. Moreover, it
shows representative examples of confirmed ARMs, based on our own
experience in the last ten years in a tertiary center for this pathology.
The Ethics Committee in our Institution approved this article.
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European Journal of Radiology 125 (2020) 108859
2. Normal and pathological imaging findings
2.1. Normal imaging of the fetal distal colon, rectum and perineum
In healthy fetuses, the bladder is the first structure to be seen in the
fetal pelvis at 9–10 weeks of gestation. It is almost never completely empty
after the 12th pregnancy week [21,22], even immediately after voiding,
which facilitates its identification at imaging studies. The fetal bladder is
seen as a round anechoic structure of no more than 3 cm of diameter in the
second trimester of gestation. Concerning the distal bowel, the diameter of
the normal rectum is usually smaller than that of the bladder. After the
20th week of gestation (WG), the gradual increase of the anal sphincter
pressure leads to a progressive accumulation of meconium in the distal
Fig. 2. Fetal perineal plane and “Target-like
sign” on US and MRI exams.- The sagittal
midline image (a) on screening US shows the
procedure to obtain the right orientation for
evaluation of the fetal perineum. First, an axial
plane at the level of the fetal pelvis is obtained
(1a). The ultrasound probe is now oriented
caudally to obtain a plane tangential to the
fetal perineum (2a). Schematic drawing of the
fetal pelvis in the tangential perineal plane (b)
and of the normal fetal perineum on screening
US at the 20th WG (c) and on MRI T2-WI at the
19th WG (d). The perineum (P) appears as a
triangle heading dorsally, surrounded by two
hypoechoic semilunar areas corresponding to
the gluteal muscles (G). The ‘’target-like sign’’
(black circle) that identifies the anal complex is
located in the dorsal part of that triangle, on
the midline. Adapted, with permission, from
Perlman et al [Ref 23].
L. Rohrer, et al.
colon and rectum [23,24]. (Fig. 1). On US exams performed in the second
trimester of gestation, both the normal urine and the meconium are an-
echogenic whereas later in pregnancy, in the third trimester, the rectal
meconium is not as hypoechogenic as the urine. The fetal anus should be
identifiable at US exams performed after the 22-23th WG in a plane or-
iented tangential to the fetal perineum [5,25–27]. The method to obtain
this plane is described in detail in Fig. 2. The normal anal complex is
observed as a “target”- like image, formed by a central hyperechoic circle
(the anal mucosa) surrounded by a hypoechoic rim (the anal sphincter)
[5,23–26].
MRI may be used in the third trimester of pregnancy as a com-
plementary imaging method in selected patients with suspicion of ARM
or in patients with complex anatomy and multiple congenital mal-
formations at screening US exams. On MRI, the different composition
and protein content of the urine and the meconium filling the colon and
rectum enable a clear distinction of these two fluids: the urine is
homogeneously hyperintense on T2- and hypointense on T1-weighted
images (WI) whereas after the 24th week of pregnancy, the protein rich
meconium appears homogeneously hyperintense on T1- and
Fig. 3. Absent “target sign” on US exams.- Tangential transperineal US images performed at the 25th-, 25th- and 22th WG, respectively in 3 different fetuses with
confirmed ARM show absent “target sign” in the fetal perineum. Please compare with Fig. 2.
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European Journal of Radiology 125 (2020) 108859
hypointense on T2-WI [1,20,24]. The midline sagittal plane in US and
in T1-WI MR images is crucial for evaluating the position of the distal
rectum related to the level of the bladder neck. In this plane, the rectum
is normally observed > 1 cm below the level of the bladder neck
[13,14,24] (Fig. 1).
On MRI, the “target sign” is identifiable at the axial transperineal
fetal plane in T2-WI images (Fig. 2).
2.2. Prenatal imaging findings of ARMs
The absence of the anal “target sign” is the foremost direct sign of
ARMs at both prenatal US (Fig. 3) and MRI studies [5,23,25,26]
(Fig. 4). An anomalously small “target sign” in absence of identifi-
cation of the hyperechoic central mucosa should also suggest the
pathology. Other imaging findings indicative of ARM include an
anomalous distension of the distal colon and rectum with an in-
creased transverse diameter compared to the adjacent bladder
(Fig. 5). This sign is not always present and may be transient [27].
Occasionally, the distended rectum shows a thickened wall that can
L. Rohrer, et al.
Fig. 4. Absent “Target sign” on prenatal T2-WI MRI images.- Oblique transperineal T2- WI images of prenatal MRI studies performed at the 26th(a)-, 28th (b)- and 30th
WG (c), respectively in 3 fetuses with confirmed ARM show absent “target sign”. Please compare with Fig. 2. Note bilateral hydrocele (H) in fetus c.
be hyperechogenic on US exams (Fig. 5). In fetuses with intermediate-
high type ARMs, a high-located rectal pouch with respect to the level
of the bladder neck can be observed [12,13]. As previously men-
tioned, this sign is better detected in the midline sagittal plane at both
US and T1-WI MR images.
An abnormal echogenicity and/or signal intensity of the meconium
filling the rectum suggest a high-type ARM with associated recto-ur-
inary fistula. In these cases, the communication between the rectal
pouch and the urinary tract results in mixing of urine and meconium
that alters the normal characteristics of the rectal fluid. On US, an in-
creased echogenicity and/or a marked heterogeneity of the rectal me-
conium can be observed. Occasionally, hyperechogenic “meconial
pearls’’ – also known as enterolithiasis-, are seen (Fig. 5). On MRI, a
recto-urinary fistula should be suspected in case of anomalous inter-
mediate signal intensity of the rectal meconium, which appears more
hypointense on T1-WI and more hyperintense on T2- WI images than
usual (Fig. 6).
The imaging signs suggestive of the different types of ARMs and
cloacae are resumed in
2.3. Prenatal imaging findings of cloacae
Livingston et al. [28] described 3 main signs of persistent cloaca on
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European Journal of Radiology 125 (2020) 108859
US screening exams: a distended distal bowel, urinary tract anomalies
and hydrometrocolpos (Table 2). In the last years, various articles have
also described the imaging findings of cloacae on prenatal MRI [16–20].
A small/absent “target sign” in a female patient with a vaginal dis-
tension or hydrocolpos should suggest the diagnosis (Figs. 7 and 8). In
cloacae, hydrocolpos is frequently associated to a complete or in-
complete genital duplication (Fig. 8). The accurate identification of the
multiple fluid-filled pelvic organs (hemiuteri, hemivaginae, bladder and
rectum) may be difficult at US studies. On MRI exams performed in the
third trimester of pregnancy, the high spatial resolution of the method
and the differences in signal intensity of the fluids filling these hollow
pelvic organs may help distinguish the different anatomic structures
[15–19]. The identification of a normal rectum with normal meconium
signal on MRI in a patient with hydrocolpos excludes the diagnosis of
cloacal malformation [29].
In contrast with Livingston et al. [28] and as described recently by
Dannull et al. [30] we have observed that the position and diameter of
the rectum in cloacae is challenging and depends mainly on the dis-
tension of the vagina. Therefore, the rectum can be either distended or
collapsed and cranially displaced by a voluminous hydrocolpos (Fig. 7).
A voluminous hydrocolpos can also collapse and displace the urinary
bladder anteriorly and may be at the origin of a secondary hydrone-
phrosis.
L. Rohrer, et al. European Journal of Radiology 125 (2020) 108859

Fig. 5. Distension of the fetal sigmoid and rectum.- Midline sagittal US image at the 25th WG (a) in a patient with confirmed ARM shows the distended rectum (R)
compared to the diameter of the urinary bladder (B). The fluid filling the rectum is homogeneously hypoechogenic. Coronal oblique US image exam at the 25th WG
(b, c) in a second patient with confirmed high-type ARM with recto-urinary fistula. The bladder wall (B) is thickened and echogenic (white arrow, b) and the rectum
(R) is distended. Note the heterogeneity of the rectal filling with multiple hyperechogenic “meconium pearls”, also known as entherolitiasis (white dots, c).

3. Associated anomalies
Children with ARMs also have a high incidence of associated
multisystemic congenital anomalies, mainly renal and vertebral
[2,3,6,7]. External genitalia are also often abnormal, especially in
cloacae. A complete screening US exam should depict the anal
sphincter, the anal canal, the normal liquid echogenicity of the me-
conium and the normal aspect of the rectum and bladder. If these
structures are absent or abnormal, a systematic search for associated
lesions should be performed, including the evaluation of the fetal
kidneys and the spine. On the other hand, if fetal sacral or renal
anomalies are detected at screening US, the evaluation of the distal
colon, rectum and perineum is mandatory, because of the increased
risk of ARMs. However, in screening US exams, low-type ARMs re-
main more difficult to identify than high-type malformations because
the prenatal imaging findings are often less evident, associated mul-
tisystemic anomalies are not always observed and in absence of recto-
urinary fistulae, no anomalies in the echogenicity and signal intensity
of the meconium and/or urine are identified.
4. Conclusion
Most ARMs are still first diagnosed after birth. An accurate prenatal
diagnosis would contribute to improve the information provided to the
parents and to optimize decisions about management during pregnancy
and in the immediate neonatal period. Screening US in the second tri-
mester of pregnancy is an excellent method for diagnosing ARMs, but it
requires both a systematic examination of the fetal pelvis and perineum
and an appropriate knowledge of its suggestive imaging findings. In
selected cases, MRI performed in the third trimester is a good com-
plementary tool to confirm the diagnosis, to identify associated fistula
and to better recognize the complex fetal anatomy, especially in pa-
tients with cloacae.

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L. Rohrer, et al. European Journal of Radiology 125 (2020) 108859

Fig. 6. Anomalous signal intensity of meconium

on MRI.- The midline sagittal T1- (a) and T2-WI
(b) images of MRI exam performed at the 30th
WG clearly shows the anomalous, intermediate
signal intensity of the rectal fluid (R). Note the
distended duodenum (white arrow, b) and the
ascites secondary to a duodenal atresia and
congenital cardiac anomalies in this patient with
confirmed VACTERL syndrome, high type ARM
and recto-urethral fistula.

Table 2
Summary of prenatal imaging signs suggestive of ARMs. The most relevant signs are written in bold.
Low and intermediate - high type MAR Cloaca

- Small/absent anus (‘’target sign’’) - Small/absent anus (‘’target sign’’)

- Absence of identification of the anal mucosa - Multiple pelvic cystic masses
- Hydrocolpos or hydrometrocolpos
- Distal bowel distension * - High located rectal pouch
- Echoic and/or thickened rectum wall - Poor bladder or rectal visualisation
- High position of the rectal pouch ** - Abnormal meconium echogenicity/signal intensity
- Abnormal meconium echogenicity/signal intensity - Vaginal / Uterine duplication
- Meconial pearls (enterolithiasis) - Anomalous genitalia
- Anomalous genitalia - Amniotic fluid anomalies
- Amniotic fluid anomalies

*May be transient; **normally located +/- 1 cm under the bladder neck.

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L. Rohrer, et al. European Journal of Radiology 125 (2020) 108859

Fig. 7. Hydrocolpos in 2 female fetuses with confirmed cloaca.- The midline sagittal T2- (a, c) and T1-WI (b, d) images of prenatal MRI performed at the 28th WG in
patient 1 (a, b) and at the 30th WG in patient 2 (c, d) show a marked vaginal distension (V). In patient 1 the hydrocolpos displaces the bladder anteriorly (white
arrow, a) whereas in patient 2 the bladder (B) is distended (c). Note the identic signal intensity of the fluid filling the vagina and the bladder. Both foetuses had ascites
and a high-located rectum (fine white arrows, b, d).

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L. Rohrer, et al. European Journal of Radiology 125 (2020) 108859

Fig. 8. Genital duplication in 2 female fetuses with persistent cloaca.- In patient 1, the coronal US (a), and the transverse (b) and coronal (c) T2-WI of MRI performed
at 28th WG evidence a complete genital duplication with 2 fluid-filled hemivaginae (v) and hemiuteri (U). Note abundant ascites, a caudal displacement of the
bladder (white block arrow, c) and bilateral hydronephrosis with marked renal atrophy (white arrows, b). In patient 2, a distended vagina and 2 hemiuteri (white
arrows) are clearly distinguished in this coronal T2-WI MRI image performed at the 30th WG.

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