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EDITOR’S CORNER

Congenital malformations of the female genital tract:


the need for a new classification system
Grigoris F. Grimbizis, M.D., Ph.D.,a and Rudi Campo, M.D.b
a
First Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece;
and b European Academy of Gynecological Surgery and European Society of Gynecological Endoscopy, Leuven, Belgium

Current proposals for classifying female genital anomalies seem to be associated with limitations in effective
categorization, creating the need for a new classification system that is as simple as possible, clear and accurate
in its definitions, comprehensive, and correlated with patients’ clinical presentation, prognosis, and treatment on
an evidence-based foundation. Although creating a new classification system is not an easy task, it is feasible
when taking into account the experience gained from applying the existing classification systems, mainly that
of the American Fertility Society. (Fertil Steril 2010;94:401–7. 2010 by American Society for Reproductive
Medicine.)
Key Words: Congenital malformations, classification, female genital anomalies

Congenital malformations of the female genital tract consist of Therefore, congenital anomalies represent a more frequent
a group of miscellaneous deviations from normal anatomy. They re- clinical entity than previously expected. The effective appraisal of
sult from embryologic maldevelopment of the M€ullerian or parame- the anomalies requires a representative classification system.
sonephric ducts during fetal life: failure of one or more M€ ullerian
ducts to either develop (e.g., aplasia in parts of the system, unicorn-
uate uterus without rudimentary horn) or canalize (e.g., unicornuate THE CHARACTERISTICS OF A CLASSIFICATION SYSTEM
uterus with rudimentary horn but without proper cavity), abnormal Classification systems are extremely useful and necessary for
fusion of the ducts or a lack of duct fusion (e.g., didelphys uterus, organizing any kind of knowledge, especially medical knowledge.
bicornuate uterus), and failure to absorb the septum, either totally In medicine, categorization enables a better understanding of
or partially (e.g., septate uterus, arcuate uterus, obstructing or non- disease processes as well as more effective diagnosis and treatment.
obstructing cervical or vaginal septum) (1–7). Classification systems are based on the systematic categorization of
Although certain types of congenital malformations are the result the patients into groups with similar characteristics. The basic char-
of a clear disturbance in one stage of embryologic development, acteristics selected for patient grouping and how they are used in
others are the result of disturbances in more than one stage of normal a system are important and create the differences between the
formation (3). This multistage involvement seems to be the reason systems proposed for a group of diseases. The acceptance of a system
for the extremely wide anatomical variations and the large number indicates its ability to effectively correspond to the needs of the
of combinations observed in congenital malformations of the female clinicians in understanding, diagnosing, and treating patients.
genital tract. Importantly, uterine malformations are only a part, The ideal classification system should have the following charac-
although the greater part, of female genital malformations. teristics: [1] clear enough and accurate for diagnosis and differential
Congenital anomalies are very common, but their true prevalence diagnosis; [2] comprehensive, incorporating all possible anatomical
in the general population is not absolutely known mainly owing to variations; [3] correlated with the clinical presentation and progno-
methodological bias (6–8). However, the current availability of sis of the patients; [4] correlated with the treatment of the patients;
a wide range of noninvasive diagnostic procedures provides the and [5] as simple as possible.
opportunity to detect anatomical variations in an accurate way. In
an older pooled analysis of all studies, the mean prevalence of
female congenital malformation in the general population was CURRENT PROPOSALS FOR THE CLASSIFICATION OF
4% (6); in a more recent systematic review that included studies CONGENITAL MALFORMATIONS
using more accurate diagnostic methods, the mean prevalence in In 1979, Buttram and Gibbons (9) did the first serious work on the
the general population was up to 7% (7). classification of congenital malformations, which was the basis for
the American Fertility Society (AFS) classification system, which
Received August 8, 2009; revised February 4, 2010; accepted February was published in 1988 (4). The AFS classification system has
15, 2010; published online March 31, 2010. been widely accepted and is currently the most widely used system.
G.F.G. has nothing to disclose. R.C. has nothing to disclose.
Two other proposals have also been published; in 2004, Acien et al.
Reprint requests: Assistant Professor Grigoris F. Grimbizis, First Depart-
ment of Obstetrics and Gynecology, Aristotle University of Thessaloniki, (2) proposed a new system based on the embryological origin of the
Tsimiski 51 Street, 54623, Thessaloniki, Greece (FAX: 30-2310-991510; anomalies, and 1 year later, Oppelt et al. (10) proposed the vagina,
E-mail: grimbi@med.auth.gr). cervix, uterus, adnexae, and associated malformations (VCUAM)

0015-0282/$36.00 Fertility and Sterility Vol. 94, No. 2, July 2010 401
doi:10.1016/j.fertnstert.2010.02.030 Copyright ª2010 American Society for Reproductive Medicine, Published by Elsevier Inc.
system. Although it is too early for permanent conclusions, these reduces its chances of acceptance; there is a radical change on the
systems have not been widely accepted. basis of the classification system from anatomy, which is the basis
of the widely accepted AFS classification system, to embryogenesis.
AFS Classification Because congenital malformations of the female genital tract are
defined as miscellaneous deviations from normal anatomy, it seems
The basis for the AFS classification system is the anatomy of the
more logical to choose anatomy per se as the basis for their classifi-
female genital tract, especially the uterine anatomy (Table 1). This
cation. It should also be noted that current theory about female gen-
system is simple, user-friendly, and clear enough. It has been
ital tract embryogenesis, which seems to be reliable, could undergo
successfully adopted as the main classification system for almost
some changes in the future as new evidence comes to light. This shift
two decades. The fact that the vast majority of the female congenital
could cause changes in the basis of the classification system and
malformations are uterine, which is the basic characteristic for pa-
the selected and proposed categories.
tient grouping, explains the wide acceptability. Also, the classifica-
Furthermore, patients’ clinical manifestations, prognoses, and
tion of congenital malformations according to the degree of uterine
treatments seem to be the most important parameters in choosing
deformity seems to correlate well with patient prognoses, mainly the
the basis for a classification system. Because most therapeutic inter-
impact on pregnancy outcome, which is another notable parameter
ventions tend to restore normal anatomy, and the clinical problems
for explaining the system’s acceptance.
seem to be associated with anatomical deviations from the norm,
However, as time passes, many problems seem to be associated
anatomy per se seems to be the more functional basis for the classi-
with the use of the AFS system:
fication system. Of course, it is useful to explain and understand the
1. Many clinicians are faced with congenital anomalies that are not pathogenesis of any genital malformation before undertaking
included in the main categories or subcategories of the AFS the best corrective or therapeutic approach. Finally, this system is
classification system, such as bicervical septate uterus with or not very simple or friendly to use.
without vaginal septum, didelphys with obstructing vaginal sep-
tum, and bicornuate with cervical/vaginal aplasia (2, 3, 11–35).
2. There has been extensive discussion as to whether arcuate uterus
needs to be a separate class in the classification system or should VCUAM Classification
be included with septate uterus (6, 36). The basis of the VCUAM system is the anatomy of the female genital
3. Class I includes cases with hypoplasia and/or dysgenesis of the va- tract (Table 3). Each organ is classified separately, similar to the tu-
gina, cervix, uterus, and/or adnexae; the grouping of these patients mor, node, and metastasis classification system for breast tumors
into one category is very general and not functional, and it seems to (10). This approach provides the opportunity to have a precise, de-
be an effort to avoid a problem rather than to solve it. Although tailed, and extremely representative manner of classification; each
these types of anomalies represent an extremely low percentage type of anomaly could be described using this system, and the clini-
of the total number of malformations (37), they incorporate severe cian could have an accurate idea of each individual’s genital tract
(in terms of deviation from the normal) and complex (more than anatomy.
one organ) types of congenital anomalies; they are associated The main disadvantage of this system is that it is not simple or
with very serious clinical manifestations, and they usually need user-friendly. Patients are classified only with the help of the classi-
complex surgical treatments (18, 38–40). A clear and accurate fication system’s tables. ‘‘Translating’’ what a ‘‘V5b, C2b, U4b, A0,
classification is a prerequisite for their treatment. Furthermore, MR’’ patient has (a woman with Mayer-Rokitansky-Kuster-Hauser
the two proposals for a different classification system (2, 10), as syndrome) is not easily done without the use of the appropriate
well as some subdivisions proposed for certain categories of tables. This system is not practical for everyday use and explains
genital malformations (40, 32), are derived from the inability of the low acceptance of this idea.
the AFS classification system to effectively classify ‘‘complex’’ From the design of the VCUAM classification system, the anom-
anomalies. alies of each separate organ of the female genital tract have the same
4. ‘‘Obstructive’’ anomalies, which are the result of cervical and/or independent importance in the classification of each patient, which
vaginal aplasias and/or dysplasias, in the presence of either a nor- does not allow their frequency to be taken into account in the
mal or deformed but functional uterus are not represented in the patient’s classification. Thus, extremely frequent congenital
AFS classification system (40, 32). These anomalies are either anomalies, such as uterine septum, have the same importance in
placed together in the first class or are not clearly distinguished the classification as the extremely rare anomalies, such as cervical
in the other classes (2, 10). aplasia. This overestimation of the anatomy seems to not be very
functional because frequency is another important parameter in
It seems, therefore, that the AFS classification system ‘‘could
the design of the classification systems.
function as a framework for the description of anomalies rather
Another misleading problem of the VCUAM system is that there
than an exhaustive list of all possible anomaly types.’’
is a need to discuss the groups for each separate organ from the be-
ginning; according to this system, uterine anomalies are classified
Clinical and Embryological Classification into 0, normal; 1a, arcuate; 1b, septate <50%; 1c, septate >50%;
The basis for the clinical and embryological classification system (2) 2, bicornuate; 3, hypoplastic; 4a, unilaterally rudimentary or
is the embryological origin of the different elements of the genitouri- aplastic; 4b, bilaterally rudimentary or aplastic; þ, other; and #,
nary tract (Table 2). This system could lead to a better understanding unknown (Table 3). As easily, one could understand there is
of the pathogenesis of female genital tract anomalies, which seems a need to discuss from the beginning the adequacy of the proposed
to be the main purpose of its inventors. Also, the system may be classification to cover all kinds of uterine anomalies (e.g., there is
more effective at classifying the complex anomalies because it is a need for a distinct class of uterus didelphys and unicornuate
based on their pathogenesis, a hypothesis that needs to be tested. uterus), the necessity of each separate class, and the definitions of
However, this system has an inherent limitation that dramatically each distinct category.

402 Grimbizis and Campo Classification of female genital anomalies Vol. 94, No. 2, July 2010
TABLE 1 TABLE 2
AFS classification of patients based on the anatomy of the Clinical and embryological classification of patients based
female genital system, especially uterine anatomy. on the embryological origin of the different elements of the
genitourinary tract.
Class I Hypoplasia and (a) Vaginal, (b) cervical,
agenesis (c) fundal, (d) tubal 1. Agenesis or hypoplasia of a urogenital ridge; unicornuate
Class II Unicornuate (a) Communicating, uterus with uterine, tubal, ovarian, and renal agenesis on
(b) noncommunicating, the contralateral side.
(c) no cavity, (d) no horn 2. Mesonephric anomalies with an absence of the Wolffian
Class III Didelphys duct opening to the urogenital sinus and ureteral bud
Class IV Bicornuate (a) Partial, (b) complete sprouting (and, therefore, renal agenesis). The ‘‘inductor’’
Class V Septate (a) Partial, (b) complete function of the Wolffian duct on the Mullerian duct also fails,
Class VI Arcuate and there is usually uterovaginal duplicity plus blind
Class VII DES drug-related hemivagina ipsilateral with renal agenesis, clinically
presented as
Grimbizis. Classification of female genital anomalies. Fertil Steril 2010.
(a) Large unilateral hematocolpos
(b) Gardner’s pseudocyst on the anterolateral wall of the
vagina
Thus, although the VCUAM classification system may serve as (c) Partial reabsorption of the intervaginal septum, seen as
an exhaustive list of all possible anomalies, it could not easily serve a ‘‘buttonhole’’ on the anterolateral wall of the normal
as a functional framework for describing the anomalies. vagina, which allows access to the genital organs on
the renal agenesis side
(d) Vaginal or complete cervicovaginal unilateral agenesis,
THE NEED FOR A NEW CLASSIFICATION SYSTEM ipsilateral with renal agenesis, and with [1] no
The need for a new classification system for congenital anomalies of communication or [2] communication between both
the female genital tract seems obvious. The new system should seri- hemiuteri (communicating uteri).
ously and critically take into account all of the experience gained € llerian anomalies affecting
3. Isolated Mu
from the application of the current classification systems, incorporat-
ing their advantages and avoiding their disadvantages and fulfilling, as (a) Mu€ llerian ducts: the common uterine malformations as
much as possible, all the criteria for an ideal classification system. This unicornuate (generally with uterine rudimentary horn),
is not an easy task, but it is a necessary task for patient management. bicornuate, septate, and didelphys uterus
(b) Mu€llerian tubercle: cervicovaginal atresia and
Clear and Accurate Definitions segmentary anomalies, such as transverse vaginal
Hysterosalpingography does not really help diagnose a large number septum
(c) Both Mu €llerian tubercle and ducts: (uni- or bilateral)
of congenital malformations (e.g., all cases of aplasia or cases with
Mayer-Rokitansky-Kuster-Hauser syndrome
obstructing vaginal septum that do not allow approximation of the
cervix) or offer an effective differential diagnosis between others 4. Anomalies of the urogenital sinus: cloacal anomalies and
(e.g., between septate and bicornuate uterus), but it was the main others
noninvasive diagnostic procedure during the 1980s (7, 8, 41–47). 5. Malformation combinations: Wolffian, Mu €llerian, and
However, two-dimensional ultrasound using the transabdominal cloacal anomalies
and/or transvaginal route, as well as sonohysterography later, were Grimbizis. Classification of female genital anomalies. Fertil Steril 2010.
major noninvasive steps forward in the diagnosis of congenital mal-
formations, and a real improvement was made with the introduction
of three-dimensional ultrasound, enabling the physician to estimate
both the endometrial cavity and the outer shape of the uterus in imaging in laparoscopy), greatly increase our efficacy for an
a more accurate and patient-friendly way (7, 42, 43–58). More accurate, clear, and detailed estimation of the anatomy of the
recent advances in the field of computer science and ultrasound female genital system (78–81).
offer the opportunity for the three-dimensional computerized ultra- Ideally, the classification system should be very clear in the de-
sound reconstruction of the uterine cavity, a diagnostic approach that scription of its classes, as well as its possible subclasses, to enable
could be undertaken as virtual hysteroscopy (59). the clinician to efficiently recognize anatomical variations and clas-
Magnetic resonance imaging began a new era in the noninvasive sify them easily and exactly. Clarity will enable the clinician to de-
diagnosis of the uterus. Females of reproductive age show three dis- velop a diagnostic strategy. The anatomy of the female genital tract
tinct layers in the myometrium on T2-weighted images: hyperin- should be defined as objectively as possible, and for this reason the
tense inner endometrium, surrounded by the hypointense examination protocol should be supplemented as needed by any im-
junctional zone (JZ), and the intermediate hypointense outer myo- aging modality that contributes to this goal. Clear definitions of each
metrium (60–69). The JZ is functionally important in reproduction type may help avoid subjectivity in the criteria used to recognize and
and ontogenetically related to the endometrium (61, 63, 65). classify each anomaly and avoid ‘‘transitional’’ cases (3, 6, 7, 82).
Although its diagnostic accuracy in the management of congenital A clear and accurate classification of the congenital malforma-
anomalies is not yet fully elucidated, it seems to be an extremely tions allows for the correct assessment of their prevalence and the
useful tool, especially in cases of obstructive or nonobstructive prevalence of the different types. In addition, the need for standard-
vaginal and/or cervical aplasia or dysplasia (8, 11, 24, 25, 70–77). ization is exemplified by the lack of an internationally accepted
All these improvements, together with advances in the field of orientation system for the display of uterine images. In view of
endoscopy (e.g., office hysteroscopy, hydrolaparoscopy, better the worldwide popularity of ultrasound, an internationally accepted

Fertility and Sterility 403


uterus with obstructing vaginal septum, cervical aplasia/dysplasia
TABLE 3 with functioning uterine corpus, and so on (2, 3, 11–35, 83).
VCUAM classification of patients based on the anatomy of These described new variations are probably the result of our
the female genital system, more specifically, the increasing ability to more efficiently detect anomalies and identify
independent estimation of each organ’s anatomy. anatomy in detail using the new diagnostic modalities. The
classification system must be able to incorporate the new entities
Vagina (V) 0 Normal and be open to new possible combinations.
1 (a) Partial hymenal atresia,
(b) complete hymenal atresia
2 (a) Incomplete septate vagina <50%, Correlation with Clinical Presentation and Prognosis
(b) complete septate vagina Ongoing evidence supports the initial perception that uterine anoma-
3 Stenosis of the introitus lies are associated with poor pregnancy outcome (6, 84–90). The
4 Hypoplasia pregnancy-related consequences of each type of anomaly may be dif-
5 (a) Unilateral atresia,
ferent (6, 87, 89–92) or not between different groups (e.g., arcuate and
(b) complete atresia
S [1] Sinus urogenitalis (deep septate uterus) or subgroups of the same group (e.g., partial, complete,
confluence), [2] sinus urogenitalis and bicervical septate uterus) (36, 93, 94). Some of the consequences
(middle confluence), [3] sinus are related to obstetrical complications that are dangerous to
urogenitalis (high confluence) a woman’s life, such as pregnancy in a noncommunicating uterine
C Cloacae horn of a unicornuate uterus (91, 95–99).
þ Other Women with obstructive congenital anomalies (normal functioning
# Unknown uterus with cervical and/or vaginal aplasia or dysplasia) are usually
Cervix (C) 0 Normal associated with severe health problems, such as cyclic pain resulting
1 Duplex cervix from ‘‘trapped menses’’ and coexisting endometriosis, an inability to
2 (a) Unilateral atresia/aplasia,
establish a sexual life, and reproductive problems achieving
(b) unilateral atresia/aplasia
þ Other
a pregnancy, even with assisted reproductive techniques (18, 32, 39,
# Unknown 40, 82, 100–105). The treatment of these patients is urgent in nature,
Uterus (U) 0 Normal and an inability to restore the continuity of the female genital tract is
1 (a) Arcuate, (b) septate <50% uterine substituted only by total hysterectomy (18, 82, 83, 100–102, 104,
cavity, (c) septate >50% uterine 106–108). This group of women has a completely different clinical
cavity presentation and therapeutic requirements than the group of patients
2 Bicornuate with vaginal aplasia/dysplasia and an absent functioning uterus. This
3 Hypoplastic anomaly is associated with a lasting negative psychological impact
4 (a) Unilaterally rudimentary or aplastic, on women. However, the main problems are the inability to
(b) bilaterally rudimentary or aplastic
establish a sexual life and reproductive problems, which could wait
þ Other
# Unknown
until beginning sexual activity (38, 109–113).
Adnexa (A) 0 Normal Thus, it is extremely important for the evidence-based prognosis of
1 (a) Unilateral tubal malformation, female genital anomalies to have a new classification system with clear
ovaries normal, (b) bilateral tubal definitions of each group and subgroup. Ideally, the system should in-
malformation, ovaries normal corporate the different categories of congenital malformations in
2 (a) Unilateral hypoplasia/gonadal a very distinct way; uterine malformations are usually associated
streak, (b) bilateral hypoplasia/ with a different prognosis than that of the cervix and vagina.
gonadal streak
3 (a) Unilateral aplasia,
(b) bilateral aplasia Correlation with Treatment
þ Other Laparoscopy and hysteroscopy markedly increase our therapeutic
# Unknown options (6, 77, 78, 98, 114–121). Furthermore, many new
Associated 0 None therapeutic options have been proposed for the restoration of
malformations R Renal vaginal and/or cervical aplasia/dysplasia in the presence or not of
(M) S Skeleton
a functional uterus (18, 26, 32, 82, 100–104, 106, 113, 122–131).
C Cardiac
N Neurologic
More importantly, the results of their treatment could be evaluated
þ Other in clinical series or in reviews of case reports or case series
# Unknown (18, 32, 82, 100–103, 106, 113, 122, 125, 128, 129, 132–135).
When planning a clear therapeutic strategy for female genital
Grimbizis. Classification of female genital anomalies. Fertil Steril 2010. malformations the following questions should be asked for every
category: [1] Is treatment needed? For example, restoring the conti-
nuity of the female genital tract is a necessity in cases of obstructing
standard orientation would assist clinicians in their interpretation
anomalies. [2] Is there a treatment? For example, hysteroscopic sep-
of the literature.
tum resection can restore normal uterine anatomy in cases of septate
uterus, but restoration of the uterine anatomy is not feasible for
Comprehensive Incorporation of All Potential Variations unicornuate uterus. And [3] will treatment restore the functional
An ongoing number of publications have reported a number of new problems related to the anomaly?
variations of undescribed anomalies with unclear classification: sep- In planning our therapeutic strategy, there is an obvious need for
tate bicervical uterus with or without vaginal septum, didelphys an evidence-based patient classification according to the patient’s

404 Grimbizis and Campo Classification of female genital anomalies Vol. 94, No. 2, July 2010
therapeutic needs. The classification system should, therefore, in- a most broad consensus, all scientific societies working in a field
corporate treatment-related options in its design. This approach related to this subject will be invited to participate in this project.
will make it feasible to evaluate the safety, efficacy, and effective- Using the Delphi procedure, a cost-efficient oversight communica-
ness of the procedure to restore normal anatomy and function. tion is guaranteed.
The task definition is obvious but not easy; a new classification sys-
Simple and User-friendly tem should have the practicality of the AFS classification system, but
The system should, ideally, be simple, user-friendly, and functional. definitions should avoid subjectivity in the criteria used for patient
To be user-friendly and functional, there should be a direct and ob- grouping and take into account the modern diagnostic and therapeutic
vious association with the anatomy of the female genital system modalities. Anatomy should preferably be the basis of an updated
without using complicated tables. As the AFS committee for the classification system taking into account, if possible, embryogenesis.
classification of congenital anomalies pointed out, the scheme of The different types of anomalies should be categorized in a strict
the classification system should be given in one page. The system manner. Scientific interest has been focused on uterine anomalies
has to be both complete and simple; it is not necessary to be analyt- rather than on the genital tract in general, and, therefore, this might
ical and extremely detailed. The frequency of the congenital be taken into account in an updated classification. Completeness,
anomalies should also be taken into account. flexibility, simplicity, and friendliness of use should be discussed.
It is planned to use the Delphi procedure (136) to find a consensus
CONCLUSION among the experts in the field. The Delphi procedure is an affordable
Congenital malformations of the female genital system seem to rep- and user-friendly communication model, characterized by anonym-
resent a common clinical entity, especially in patients with infertility ity, to avoid dominance; and where processes occur in rounds, it al-
problems. The most commonly used classification system is that of lows individuals to change their opinion. Through controlled
the AFS, but its appropriateness today has been challenged. There is feedback and statistical group response, the expert group comes to
an urgent need to have a more exact, clear, and accurate definition of a form of consensus. This review article provides a necessary over-
the different malformations to facilitate researchers and clinicians in view of the existing problem and will be used as the starting point for
providing correct answers for the prognosis and treatment of the the working group containing a minimum of 20 practicing clini-
different malformations. cians, surgeons, radiologists, ultrasound specialists, geneticists,
The European Academy of Gynecological Surgery, in collabora- and researchers interested in uterine embryology.
tion with the European Society of Gynecological Endoscopy, recog- This process is only an intermediate step in the problem solution
nizes the scientific and clinical significance of an evidence-based because the existence of a consensus does not mean that the answer
updated classification of female congenital malformations and has has been found. Each answer needs to be matched to observable
established a working group specifically for this issue. To achieve events and needs its clinical approval in the field.

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