The utility of ultrasonography in the diagnosis of congenital uterine

anomalies.

Abstract

Keywords: Müllerian duct anomalies, congenital uterine anomalies, 2D and 3D ultrasonography,

primary infertility.

Introduction. The most common uterine development anomalies result from Müllerian duct
error fusion. Their variability, makes their classification difficult, and it is much more difficult to
determine their incidence. Ultrasound diagnosis is one of the most used methods today due to the
progress of the ultrasound systems, both in terms of resolution and performance.

Purpose. Analysis of available literature on USG 3D informativity in the diagnosis of congenital

uterine anomalies.

Methods. More than fifteen articles and clinical cases have been reviewed for this study. We
have turned to studies based on primary infertility, abortive disease, genitourinary anomalies,
primary diagnosis of uterine anomalies using ultrasound methods.

Results. The study showed a high informativity level of USG 3D et less USG 2D in the
diagnosis of uterine anomalies groups and subgroups. The main groups of patients who have
used ultrasound diagnosis are those with primary infertility, spontaneous abortions, ectopic
pregnancies. In the assessment of uterine anomalies subcategories, application of 3D
transvaginal medical ultrasound as a revolutionary stage. Following a study for assessment of
informativity of USG 3D, in 204 patients with uterine anomalies, was determined that the
sensitivity of the method would be 86.6%, specificity – 96.9%, and accuracy 88.2%.

Conclusions. Congenital uterine anomalies are numerous and are classified into seven large
groups. Due to the progres of ultrasound performance, especially 3D ultrasonography, it is
possible to determine their subgroups, some satellite anomalies of the uterus appendages, vagina.
The 3D ultrasound allows the simultaneous evaluation of the internal contour (endometrial
cavity) and external (fundal contour) of the uterus in the coronal plane, which is less accessible
in the 2D ultrasound. This investigation has the potential to fully characterize uterine
morphology, being a highly important objective in clinical diagnosis.

Introduction
The most common uterine development anomalies result from the error of Müllerian duct fusion.
The true cause of stopping the development of these organs in some development stage is often
difficult to establish. The most common causes are the action of various teratogenic factors,
which act in the embryonic, fetal, or even postnatal period. These factors can be: external [16]
and internal [27]. Anomalies caused by the absence of Mullerian duct development and the
failure of median septal resorption are also described [7]. Their variability makes their
classification difficult. Due to the multitude of diagnostic methods, the incidence of congenital
uterine anomalies is estimated at approximately 0.5% of the general population. Ultrasound
diagnosis is one of the most commonly used methods nowaday due to the progress of the
ultrasound systems, both in terms of resolution and performance [3]. Several studies have shown
that USG 3D can be considered as a primary method for the diagnosis and appreciation of
subcategories of uterine anomalities [6], and last but not least, one of the most accessible
methods.

Objectives

Study of imaging particularities in uterine anomalies. The assessment of three-dimensional

ultrasound informativity in the diagnosis of various variants of congenital Mullerian duct
anomalies

Methods

More than fifteen articles and clinical cases have been reviewed for this study, taken from the
databse (PubMed, Google Academic and CrossRef) and relevant literature. We have been using
studies on primary infertility, abortive disease, genitourinary anomalies, primary diagnosis of
uterine anomalies by ultrasonographic methods. The revision of studies where the primary
diagnosis of uterine anomalies through 3D ultrasound have been confirmed by intra-surgical
review, the data having an absolute coincidence.
Results
In 1979, Buttram VC Jr. and Gibbons WE. proposed a classification of uterine development
anomalies that were based on development, merger and / or resorption defect in the Müllerian
ducts [7]. Until now, the classification provided by the American Fertility Society (American
Society of Reproductive Medicine) of 1988 (Fig.1) [31] has been used, which provides for seven
classes: I Hypoplasia / Uterine agenesis; II Unicornuate uterus; III Double uterus (Uterus
didelphys); IV Bicornuate uterus; V Septate uterus; VI Arcuate uterus ; VII T-shaped uterus.
 Fig.1. The American Fertility Society classification
Thanks to the progress of imaging methods, all these major classes include some subclasses. The
study showed a high informativity level of USG 3D and less USG 2D in the diagnosis of uterine
anomalies groups and subgroups. Among uterine anomalies predominates the septate uterus
(average frequency ≈35%), the second according to the anomaly frequency – bicornuate uterus
(≈25%) and then arcuate uterus (≈20%), unicornuate (≈10%) and uterus didelphys (≈25%) [15,
28]. According to the data provided by Reichman D. s.o. [29] the frequency of the unicornuate
uterus in the general population is ≈1:4020. The main groups of patients who have used
ultrasound diagnosis are those with primary infertility, spontaneous abortions, ectopic
pregnancies, preterm birth. Several systemic studies of literature indicate a frequency of
congenital uterine anomalies in different age groups of fertile age: general population 5.5±0.7% ;
in the spontaneous abortion group 18.1±3.4%; in groups with infertility 8.1±2.9%. In the
assessment of uterine anomalies subcategories we should consider the use of 3D [ 2, 3, 4, 5, 9,
13] transvaginal medical ultrasound as a revolutionary stage. Moini A. s.o. (2013) have
appreciated the informativity of USG 3D in 204 patients with uterus development congenital
anomalies, determining that the sensibiliy of the method would be 86.6%, specificity – 96.9%,
PPV – 99.3%, NPV – 54.4%, and accuracy 88.2%.%. However, many authors recorded a high
accuracy of the method, although there are difficulties in providing a differential diagnosis
between arcuate uterus and septate uterus through small septum [26]. Another retrospective
study by Liana Pleş et al.[24] on 668 patients examined using 2-dimensional (2D) and 3-
dimensional (3D) transvaginal ultrasound has demonstrated that congenital uterine
malformations were present in 6.13% of patients. Their report was so: 42.68% of patients-
dysmorphic uterus; 20.73% of patients- incompletely septate uterus ; 14.63% of patients-
completely septate uterus; 9.75% of patients- partly bicorporeal uterus; 7.31% of patients-
completely bicorporeal uterus; 1.21% of patiens - aplastic uterus.
Full or partial unilateral agenesis of a Mullerian duct results into the development of the
unicornuate uterus, referred to as Mayer-Rokitansky-Kuster-Hauser syndrome [32] (MRKH-
absence of the uterus and 2/3 proximal of the vagina). In the case of the unicornuate uterus, the
underdeveloped cornuate may be absent or may be present, at its turn communicating or not. 2D
ultrasound in this case may be difficult, being interpreted as a small uterus, while the remnant is
confused with an adnexal mass. 3D ultrasonography - is a useful method, allowing viewing of a
single uterine cavity with endometrium, asymmetric, deviated to the left or right side, in
coronary plane [19]. At the same time, it allows determination of the rudimentary horn, that can
be communicating or not, with functional or non-functional endometrium [19]. Fourteen infertile
women where diagnosed with this malformation, where Fedele L et al.[12] by ultrasonography
demonstrated a sensitivity of 85.7% and a specificity of 100% in diagnosing the presence of a
rudimentary horn, and a sensitivity of 80% and a specificity of 100% in diagnosing the presence
of a cavity in the rudimentary horn. 
The uterus didelphys or double uterus, is the result of the absence of merger of the two Mullerian
ducts. Three-dimensional ultrasound (3D) allows the visualization of two two-cavity uterine
bodies and two separate, well-delimited cervices [25].
The bicornuate uterus results from the absence of merger in the basal region. Transvaginal 3D
ultrasound, in the coronary plane allows the visualization of a concave basal contour with two
divergent horns, while the endometrial cavities are widely separated [6]. Faivre E [11]et al have
estimated the accuracy of 3-dimensional (3-D) ultrasonography in the differential diagnosis
of bicornuate and septate uterus compared with MRI and hysteroscopy in thirty-one patients with
suspect of septate or bicornuate uterus. He got a result of 29 patients with septate uterus and 2
patients with bicornuate uterus.He concluded that transvaginal 3-D ultrasonography appears to
be extremely accurate for the diagnosis of congenital uterine anomalies.
Following the deficit of resorption after the complete merger of the Mullerian ducts, appears the
so-called septate uterus [8]. The septum inside the cavity is usually sagittal oriented, but it may
also be complete or incomplete, communicating or not [1]. Kupesic and Kurjak [23]u sed 3DUS
to evaluate 86 patients with endovaginal 3DUS.They have obtained a result of sensitivity of
98.38%, specificity of 100%, a positive predictive value of 100%, and a negative predictive
value of 96% All those patients underwent surgical confirmation. Ultrasonographically, the
contour of the uterine fundus is regular, smooth, and in the coronary plane, there is a small
divergence between the endometrial cavities. Kupesic S [22] in oane of his reviews says about
the  three-dimensional transvaginal ultrasound ability to visualize both the uterine cavity and the
fundal uterine contour and enables differentiation between septate and bicornuate uteri. 
However, the medical literature speaks about some difficulty in making the differential diagnosis
between arcuate uterus and septate uterus through small septum [16]. The arcuate uterus, named
so due to fundal thickening configuration is a minor anomaly in uterine development. It is
characterized by the presence of a morphological small septum of muscle tissue, at the level of
the uterine fundus. Viewed at the ultrasound, the external contour is convex or flat, regular, [3]
the uterine cavity having a heart-shaped appearance. The T-shaped uterus is a form of
developmental anomaly that occurs in girls where the mother, during pregnancy, exposed the
offspring to Diethylstilbestrol (DES). This is a synthetic form of nonsteroidal estrogen, which
over the years 1940-1971 was recommended to women at risk of spontaneous abortion and
bleeding during pregnancy [18]. The manifestations of children from mothers exposed to DES
have been viewed over the years 1990-2010. In transvaginal ultrasound, especially 3D, a small,
T-shaped uterus, with irregular inter-contour due to the endometrial hypoplasia.
Table 1. Sensitivity, Specificity, Positiv predicative value and Negative predicative value of
three‐dimensional ultrasound diagnosis of congenital uterine anomalies

Autorhs Pacient Sensitivity% Specificity% PPV % NPV% Uterine morphology

number
Kougioumtsidou 61 100 92.3 98 100 Septate uterus
A et al [21]
100 100 100 100 Didelphys uterus

100 100 100 100 Unicornuated uterus

100 100 100 100 Dysmorphic uterus

100 100 100 100 Aplastic uterus

Graupera B 6 100 88.9 95.5 100 Septate uterus
[14]
83.3 100 100 98.2 Didelphys uterus
100 100 100 100 Unicornuated uterus

100 100 100 100 Dysmorphic uterus

Kupesic et al 89 99.27 100 100 97.61 Septate uterus
[22]

Jurkovic et 58 100 100 100 100 Arquate uterus

al [17]

Khaled Abd 33 96.7 100 100 83.3 Septate and

AlWahabAbo
Dewan et al  bicornuate uterus
[20]

Fedele L et al. 40 80-85.7 100 100 100 Unicornuated Uterus

*PPV- Positiv predicative value
**NPV- Negative predicative value

Conclusions
Congenital uterine anomalies are numerous and are classified into seven large groups. Due to the
progres of ultrasound performance, especially 3D ultrasonography is able to determine
subgroups of uterine malformations, some satellite anomalies of the uterus appendages, vagina.
3D ultrasound allows simultaneous evaluation of the internal contour (endometrial cavity) being
essential to distinguishing fusion anomalies (bicornual uterus, uterus didelphys) from resorption
anomalies (septate uterus and arcuate uterus) and external (fundal contour) of the uterus, in the
coronal plane which is less accessible in 2D ultrasound. 3D ultrasound appears to be a very
accurate method for the diagnosis of congenital uterine anomalies. This investigation has the
potential to fully characterize uterine morphology, being a highly important objective in clinical
diagnosis. Ultrasound diagnosis is an effective procedure which improves live-birth rates.
Because of it’s simplicity, non- invasiveness, low cost, the most accessible diagnostic method
of uterine anomalies.

Table 2. Aspect of uterine developmental anomalies according to USG 3D

 Uterine morphology Fundal contour External contour

Normal Straight or convex Uniform convex or with

compression <10mm

Arcuate Fundal concave depression with

> 900 angled indentation apex
Uniform convex or with
identation <10mm

Partial septate Presence of the septum not Uniform convex or with

reaching the cervix with the identation <10mm
central apex of the septum at
an angle <900

Septate Presence of the septum Fundal indentation > 10 mm

dividing the cavity in two dividing 2 horns
from the uterine fundus to the
cervix

Double uterus Two well-formed uterine

bodies

Unicornuate with or without Unique, well-formed uterine

rudimentary horn cavity with concave fundal
contour with a single
fallopian tube

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