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Uterine Malformations:10.5005/Jp-Journals-10009-1400 Diagnosis with 3D/4D Ultrasound Review Article

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Uterine Malformations:10.5005/Jp-Journals-10009-1400 Diagnosis with 3D/4D Ultrasound Review Article DSJUOG Uterine Malformations:10.5005/jp-journals-10009-1400 Diagnosis with 3D/4D Ultrasound REVIEW ARTICLE Uterine Malformations: Diagnosis with 3D/4D Ultrasound 1Fernando Bonilla-Musoles, 2Noemi Martin, 3Mari Pepa Esquembre, 4Oscar Caballero, 5Juan Carlos Castillo, 6Francisco Bonilla Jr, 7Francisco Raga, 8Luiz Eduardo Machado ABSTRACT cavity and just one cervix. If reabsorption does not The development of the female genital system is a complex take place, it results in septate uterus that may or may embryological process. Congenital malformations of the not reach into the vagina. female genital tract may occur isolated or in combination with • Finally, and independent of the above three phases, urologic defects. The aim of this review is to describe novel there is an association between these and kidney ultra sonographic advances to improve diagnostic accuracy abnormalities because urinary system development of Müllerian malformations and to facilitate decisions about is closely associated.1 treat ment and prognosis. The female genital tract is developed from para meso­ Keywords: Congenital uterine malformations, Female repro­ nephric ducts (Müller) which begin to elongate caudally ductive tract, Müllerian anomalies, Three­dimensional ultra­ until their lower portion meets in the midline to create sonography. the uterus, cervix to the external os and upper por tion How to cite this article: Bonilla­Musoles F, Martin N, Esque­ of the vagina while the unfused upper portions leads to mbre MP, Caballero O, Castillo JC, Bonilla F Jr, Raga F, Machado the Fallopian tubes. L. Uterine Malformations: Diagnosis with 3D/4D Ultra sound. Donald School J Ultra sound Obstet Gynecol 2015;9(2):123­148. Altough Wolff ducts will dissapear, they are needed to the right development as they act as guide element for Nil Source of support: the Müllerian ducts. Conflict of interest: None Wolff´s duct is reabsorbed cranially but thickeing their lower portion from external cervical os, lead the INTRODUCTION sinuvaginales bulbs, incorporate Müller's tuber cells and lead the vaginal plate whose cavitation and epider­ They are a heterogeneous group of congenital anomalies mization from the vagina.2­5 that result from a failure in one of the three development Müller ducts begin to elongate caudally and their phases of the paramesonephric or Müller ducts: lower portion joins the medial wall of mesonephric • Organogenesis phase: One or both Müllerian ducts are ducts within a common basement membrane leading to not fully developed, leading to anomalies, such as Müller's tubercle in the dorsal wall of urogenital sinus. agenesis, bilateral or uni lateral uterine aplasia (uni­ The vagina is the genital organ whose embryology cornuate uterus). is more controversial. The classical theory suggests that • Fusion phase: The process during which the distal seg­ its upper portion derives from Müller duct and the lower ments of the Müllerian ducts fuse to form the uterus, portion from urogenital sinus. Besides the role of Wolff´s cervix and upper third of the vagina, is called the lateral ducts as an inductor, several studies have proven that fusion. A failure, abnormal fusion or incomplete fusion their caudal portions are involved in the formation of result in a uterus didelphus or bicornuate uterus. the vagina (sinuvaginales bulbs)2 (Fig. 1). • The septum resorption phase: After the fusion, the central septum is reabsorbed leading to just one endometrial 1,8Professor, 2,5,7Consultant, 3Fellow, 4Lecturer, 6Assistant Professor 1­3,6­8Department of Obstetrics and Gynecology, School of Medicine, University of Valencia, Avenida Blasco Ibáñez, Valencia Spain 4Biocontrol e Investigación Institute, Valencia, Spain 5Human Assisted Reproduction Unit, Instituto Bernabeu, Av. Albufereta 31, Alicante, Spain Corresponding Author: Fernando Bonilla­Musoles, Professor Department of Obstetrics and Gynecology, School of Medicine University of Valencia, Avenida Blasco Ibáñez 17,46011, Valencia Spain, e­mail: pofesorbonilla [email protected] Fig. 1: Embryology of the female genital tract Donald School Journal of Ultrasound in Obstetrics and Gynecology, April-June 2015;9(2):123-148 123 Fernando Bonilla-Musoles et al Fig. 2: Duct canalization Canalization of the vaginal duct will be complete Table 1: Incidence of uterine malformations among patients around week 20 to 22nd of pregnancy (Fig. 2). with desire conception in reproductive age Besides pregnancies at term have been described in Type of Fertility Infertility Sterility Total unicornuate and didelphys uterus, most complications of malformation (n = 1289) (n = 868) (n = 1024) (n = 3181) these malformations appear in the field of reproductive II unicornis 2 (0.2) 5 (0.6) 1 (0.1) 8 (0.3) medicine, but also present with gynecological problems a 0 1 0 1 such as amenorrhea, dismenorrhea, or other kind of b 0 3 0 3 problems if urological anomalies are associated.6­8 c 1 0 0 1 d 1 1 1 3 Many women with these abnormalities are asympto­ c b c matic while others experience a variety and degree of III didelphus 1(0.1) 6 (0.7) 1 (0.1) 8 (0.3) IV bicornis 5 (0.4)e 16 (1.9)d 5(0.5)e 26 (0.7)c manifestations that can occur at any age, and generally a 0 7 1 8 depend on the type of anomaly and of reproductive age. b 5 9 4 18 1 The following are the most common: V septum 20 (1.5) 17 (2) 6 (0.6) 43 (1.4)b • Amenorrhea in Müllerian agenesis. a 4 6 0 10 • Dismenorrhea in obstructive anomalies. b 16 11 6 33 • Menstrual bleeding in communicating uteri. VI arquatus 21 (1.6) 9 (1.0) 12 (1.1) 42 (1.3)b • Repeated misacarriage and obstetrics complications in VII DES 0 1 (0.1) 0 1 cases of fusion and reabsorption anomalies (infertility, Total 49 (3.8)e 54 (6.3)b 25 (2.4)c 128 (4.0) fetal malposition, ectopic pregnancy).5,6 b/cSignificant values (p < 0.05); d/eSignificant values (p < 0.05) • Pelvic tumors caused by menstrual remains and endometriosis. A recent revision including studies using advanced • Associated urinary and skeletal malformations. diagnostic tools shows a ~7% prevalence in general Müllerian malformations commonly involve uterine population.16 The introduction of transvaginal ultrasound defects and this is why they are also known as uterine in clinical practice represented a substantial step forward; or paramesonephric anomalies. However, many are also more recently, three­dimensional ultrasonography has mesonephric in origin and will have renal malformations added new insights. as well. PREVALENCE CLASSIFICATION Prevalence is difficult to establish because of the lack of The most basic classification divides these malformations 17 a uniform classification system and the use of different in three groups: diagnostic methods. • Agenesis It is estimated to occur in 0.4% of the population,7­10 but • Vertical fusion defects the percentage increases in infertile patients 4 to 10%,7­11 or • Lateral fusion defects. women who have repeated miscarriages, 3 to 38%.3,8,125 ­1 This basic classification of uterine anomalies has Our work shows that 6.3 % of infertile women have generated much confusion since many researchers used a Müllerian abnormalities (Table 1). the term hemi uterus to refer to unicorn uterus, double Incidence of uterine malformations between patients uterus and both bicornuate uterus as septate uterus. In with reproductive desire.2,3 1979, a new classification for uterine malformations based 124 DSJUOG Uterine Malformations: Diagnosis with 3D/4D Ultrasound Fig. 3: The American Fertility Society classification19 on failure of development and associated anomalies in is hypoplastic or absent, and the uterine cavity may groups with identical clinical manifestations, treat ment be normal or show any abnormalities. Ultrasound and prognosis18 was proposed. In 1983, the American scan allows us to differentiate from Rockitansky´s Fertility Society (AFS), now American Society for Repro­ syndrome which has uterine agenesis. Also, testicular ductive Medicine (ASRM), proposed to qualify the above feminization can be excluded as no ovarian tissue are described classification with very few modifications in visible. 19 1988 (Fig. 3). • Cervix agenesis with uterine cavity and functional Seven groups are included in this classification of endometrium, is exceptional. Over 50% other Mülle­ the lates 1980’s. It is useful but incomplete because other rian anomalies associated (most common bicornuate associated anomalies are not mentioned (e.g. communi­ uterus). cating uteri, etc.). • Fundus agenesis is associated with primary amenor­ rhea and/or infertility. Ultrasound shows rudimen­ Group I: Hypoplasia/Agenesis tary or absent uterine cavity in a woman with normal • Vaginal agenesis: It is a very rare malformation with external genitalia, normal or hypoplastic cervix with a incidence of 1:10000 cases. The external genitalia, normal ovaries (Fig. 4). fallopian tubes and ovaries are normal. The cervix • Fallopian tubes agenesis. Fig. 4: Rokitansky syndrome. Absence of uterus. Abdominal 2D US. To the left longitudinal cut at the vesical level. To the right transversal cut. No uterus is visible Donald School Journal of Ultrasound in Obstetrics and Gynecology, April-June 2015;9(2):123-148 125 Fernando Bonilla-Musoles et al Group II: Unicornuated Uterus It is the result from the development of just one of the Müller’s duct while the other is not developed or it may be partially developed and connected or not to the uterus. Three­dimensional ultrasound shows uterine endo­ metrial cavity with its volume decreased, and let us check if the authentic rudimentary horn has functional endometrium and if they are communicated or not. They frequently are associated to kidney agenesis. Therefore, the different possibilities are the following: • Unicornuate uterus with rudimentary horn communi­ cated and functional endometrium (IIa), • Unicornuate uterus with rudimentary horn but not communicated with functional endometrium (IIb), (Fig. 5). Unicornuated uterus with no functional rudi­ Fig. 6: Unicornuated uterus. There is only one horn and no rudimentary cavity.
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