- Email: [email protected]
Diagnosis of Mullerian anomalies in adults: evaluation of practice
TECHNIQUES AND INSTRUMENTATION Diagnosis of Mullerian anomalies in adults: evaluation of practice Chafika Mazouni, M.D.,a Guillaume Girard, M.D.,a Russell Deter, M.D.,b Jean-Baptiste Haumonte, M.D.,a Bernard Blanc, M.D.,a and Florence Bretelle, M.D., Ph.D.a a
Department of Obstetrics and Gynecology, Marseille Public Hospital System, Marseille, France; and b Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas
Objective: To evaluate the circumstances associated with the diagnosis of Mullerian anomalies in adults. Design: Retrospective observational study. Setting: University hospital. Patient(s): All patients with Mullerian anomalies referred for evaluation. Intervention(s): All patients underwent radiologic and operative diagnostic workup using ultrasonography, or ultrasonography and hysteroscopy, and in some cases laparoscopy. Main Outcome Measure(s): Clinical symptoms and radiologic investigations leading to the diagnosis. Mode and number of investigations before the diagnosis, and the time since the initial symptoms to the final diagnosis. Result(s): One hundred ten patients were diagnosed with Mullerian anomalies: 73 septate uteri, 20 bicornuate uteri, 10 uterine hypoplasia, 4 unicornuate uteri, and 3 with Mayer- Mayer-Rokitansy-Ku¨ster-Hauser syndrome. The circumstances leading to the diagnosis were infertility (33.6%), repeat miscarriage (18.2%), ultrasonography during pregnancy (12.7%), pregnancy complications during last trimester (11%), abnormal examination (8.2%), and miscellaneous causes (16.3%). Up 50% of patients complained of gynecologic signs before the appropriate diagnosis. Radiologic diagnosis required two complementary imaging techniques in 62% of patients and more than two in 28%. The correct diagnosis was established in only 40% of cases before hospitalization. Most of the anomalies were initially diagnosed at hysterosalpingography and ultrasonography. The mean time between the first imaging examination and the diagnosis in a specialized department was 6.7 (7.1) months. Conclusion(s): The diagnosis of Mullerian anomalies in adults is often made at the time of conception and obstetric complications. There is a tendency toward the use of multiple imaging techniques and this delayed the diagnosis. (Fertil Steril 2008;89:219–22. 2008 by American Society for Reproductive Medicine.) Key Words: Mullerian anomalies, uterus, diagnosis, ultrasound, imaging techniques, infertility
The diagnosis of Mullerian duct anomalies in women in their third decade can be difficult to assess and delayed diagnosis can occur even after menarche. Although the reported prevalence in general population is 0.1%–3.8%, it increases to 6.3% in infertile women (1). There are, however, still concerns about the definition and classification of these anomalies, which could lead to an inappropriate and late diagnosis. Most previous studies of uterine anomalies have focused on the diagnosis of these anomalies in childhood and adolescent patients (2, 3). Effectively, congenital obstructive malformations are usually easily detected during adolescence, when young girls experience dysmenorrhea, pelvic pain, or difficulty in inserting tampons. As they do not hamper the ability to conceive like most uterine anomalies and are minor Received December 6, 2006; revised January 31, 2007; accepted February 21, 2007. Reprint requests: Florence Bretelle, M.D., Ph.D., Hoˆpital Nord, Chemin des Bourrely, 13915 Marseille cedex 20, France (FAX: 33-4-91-96-46-96; E-mail: [email protected]).
0015-0282/08/$34.00 doi:10.1016/j.fertnstert.2007.02.044
or nonobstructive, Mullerian duct anomalies are not easy to detect. Thus, most of these anomalies remain unrecognized until there are radiologic explorations for infertility or a history of recurrent obstetric complications. Moreover, the type and clinical symptoms leading to the diagnosis will vary with the type of anomalies (1, 4). The purpose of our study was to evaluate the circumstances associated with the diagnosis and management of Mullerian anomalies in adults.
MATERIALS AND METHODS Medical charts of all patients referred for uterine anomalies to the Department of Obstetrics and Gynecology, Conception University Hospital, Marseille, France, between 1997 and 2002 were retrospectively reviewed. The institutional review board, as defined by French law, was consulted and determined that its approval (Institutional Review Board [IRB]) was unnecessary as patients received standard management
Fertility and Sterility Vol. 89, No. 1, January 2008 Copyright ª2008 American Society for Reproductive Medicine, Published by Elsevier Inc.
219
TABLE 1 Circumstances of diagnosis according to the type of malformation. Uterine Septate Bicornuate hypoplasia uterus Rokitansky Unicornuate (n [ 20) (n [ 10) (n [ 73) (n [ 3) (n [ 4) Repeat early abortion Metrorrhagia Clinical signs Clinical examination Infertility Primary amenorrhea Ultrasonography during pregnancy Pregnancy complications second or third trimester Other a a
2 5 5 3 — 3
3 1 1 1 3 — —
15 3 3 — 28 11
— — — — — 3 —
1
—
11
—
1
1
2
— — — — 3 — —
Total n (%) 20 (18.2) 4 (3.6) 9 (8.2) 6 (5.4) 37 (33.6) 3 (2.7) 14 (12.7) 12 (11)
1
5 (4.6)
Included one case of hydrocolpos and one case of leucorrhea, one case of ectopic pregnancy, and one case of hematometria.
Mazouni. Diagnosis of Mullerian anomalies. Fertil Steril 2008.
without any additional, unusual, or innovative diagnostic or follow-up procedures. Patients with suspected Mullerian tract anomalies underwent a complete workup before additional surgery that included pelvic ultrasonography (US), hysterosalpingography (HSG), tomodensitometry, and in the later years, magnetic resonance imaging (MRI). Pelvic imaging with ultrasound was usually the first imaging procedure used due to its reproducibility and good sensitivity in exploring congenital defects (5), although HSG has been the first method before the advent of US and provides a good evaluation of the uterine cavity and tubal patency (6). The MRI is also associated with a good sensitivity and specificity (7, 8), but rarely used in our department. For ultrasonography and MRI, trained operators with more than 5 years of experience performed all studies and reviewed US and HSG examinations performed at outside institutions. Surgery was usually hysteroscopy and laparoscopy, with additional operative procedures used depending on the type of anomaly. The Mullerian duct defects were specified according to The American Fertility Society (AFS) classification (9) at the time of surgery. A bicornuate uterus was identified by the presence of two well-formed uterine cornua with a convex fundal contour in each and the presence of a fundal indentation greater than 10 mm. A septate uterus was identified by the presence of septum associated with an uniformly convex external contour or with an indentation less than 10 mm. A research fellow interviewed patients by phone between January and June 2003 about the circumstances of diagnosis, the components of the workup ordered by their physician, and the first imaging technique indicating the diagnosis. 220
Mazouni et al.
Diagnosis of Mullerian anomalies
RESULTS Patients and Signs at Diagnosis Mean age at diagnosis was 30.2 years (9.2). The mean time between the first imaging examination and the diagnosis was 6.7 (7.1) months. Of the 110 patients referred for Mullerian anomalies, 4 women had a unicornuate uterus, 20 a bicornuate uterus, 73 a septate uterus, 10 uterine hypoplasia, and 3 Mayer-Rokitansy-Ku¨ster-Hauser syndrome. Table 1 summarizes the circumstances of diagnosis according to the type of malformation. One unicornuate uterus was diagnosed during a cesarean section performed for breech presentation. Clinical signs that led to subsequent investigations included irregular menses, dysmenorrhea, or menorrhagia (n ¼ 7) and leukorrhea in a 76-year-old patient with hydrocolpos. One case of uterine hypoplasia was discovered due to cervical adenosis during follow-up. All patients with dyspareunia had septate vaginas. Three patients with noncommunicating vaginas needed surgical incision for hematometra. Initial Radiologic Management The first imaging study was HSG in 46% of the cases, US in 37.5%, hysteroscopy in 9%, and tomodensitometry 7.5% of cases. A second imaging study was requested in 62.7% of cases; the second complementary examination ordered was HSG in 25%, hysteroscopy in 25%, ultrasound in 41%, and MRI in 9%. A third examination was ordered in 28% of the cases: US in 2, hysteroscopies in 23, and HSG in 5. All of these outside examination were performed before hospitalizations. Vol. 89, No. 1, January 2008
The initial diagnosis of uterine hypoplasia was confirmed by HSG in 70% and by US in 30%. Diagnosis of bicornuate uterus was confirmed by US in 85% of cases and by HSG in the remaining 15%. Diagnosis of unicornuate uterus was confirmed by HSG in one case and by US examination in the others cases. All cases of Mayer-Rokitansy-Ku¨ster-Hauser syndrome were diagnosed by US. For women with septate uterus (n ¼ 73), diagnosis was suspected by HSG in 21.5% and by hysteroscopy in 19.6%. For women with septate uteri, standard ultrasound examinations gave a false diagnosis in 80.8% of the cases.
this low figure may also be different if it reflects the ability to diagnose any type or one specific anomaly (18, 19). Hence, others studies have reported better sensitivity as a function of the type of anomalies (1, 4). Ultrasound examinations by general radiologists in private practice were relevant for unicornuate or bicornuate uterus diagnoses. It seemed also pertinent in establishing the diagnosis of uterine aplasia. However, such examinations were less successful for septate uterus, as already reported (4). Multiple imaging techniques did not improve the sensitivity for detecting uterine malformations in our study. Accurate diagnosis was made in only 40% of the cases by outside studies.
Mode of Final Diagnosis Assessment Based on outside studies, the correct diagnosis was established in only 40% of cases. In contrast, US examinations carried out by hospital staff gynecologists after admission led to a correct diagnosis in all but two cases (98%; one unicornuate uterus and one septate uterus). The MRI provided correct diagnoses in 90% of the cases (n ¼ 15).
The results of previous studies are discordant in their ability to determine the best diagnostic method for the detection of different anomalies. Although HSG is reported as the best examination for diagnosing an arcuate uterus (1, 20), it was less successful for a septate uterus (4). Currently, other imaging techniques are useful in the diagnosis of uterine anomalies (4). We found, as well as other investigators, that MRI should not be systematically used but reserved for particularly complex cases, although its sensitivity is reported to approach 100% (3, 21). Other investigators find that MRI is not sufficient for diagnosis, especially for cases of septate uterus (22). Transrectal ultrasound has been reported to help in defining the pelvic anatomy, which can be especially useful in young patients (23). Finally, three-dimensional ultrasound may be promising when conducted by experienced operators (24). However, these examinations have not been thoroughly evaluated in low-prevalence populations, and such assessment is a necessary precondition for their use in screening of low-risk populations (15, 24, 25).
DISCUSSION Despite progress in ultrasound and new pelvic imaging techniques, late diagnosis of Mullerian anomalies in the third decade is frequent as it accounts for 10% of the causes of primary infertility (10). The course of patients before appropriate diagnosis can be long and difficult as symptoms are varied and nonspecific. Accurate diagnosis of uterine malformations is of importance as it will affect subsequent fertility and pregnancy (11, 12). Difficulty in making an accurate diagnosis might be because of the low prevalence of Mullerian anomalies in the general population (13–15), in particular for nonspecialized physicians. Thus, in our study, more than half of the patients had multiple explorations before final diagnosis. An average of 6 months elapsed between the first examination and final diagnosis. In the present study we observed a wide variation in the presentation and mode of diagnosis as a function of the type of anomaly. One important finding is that difficulty to conceive and pregnancy-related complications represented the two main circumstances leading to the diagnosis. Moreover, the tendency for a first pregnancy at a late age may also contribute to a diagnosis during the third decade. This underlines the need for an appropriate diagnosis of anomalies and identification of potential sites of obstruction. This information will guide the subsequent surgical procedure and help to improve the obstetric outcome. Hence, in a recent report of 20 patients with recurrent pregnancy loss, Alborzi et al. (16) showed that because of the accuracy of HSG, unnecessary additional laparoscopy could be avoided. The sensitivity of ultrasound examination in Mullerian diagnosis has been reported to be as low as 44% (6). The US diagnosis accuracy depends on the patient’s body type, the operator’s experience, and the US scanner used (17). In fact Fertility and Sterility
The training of general practitioners and sonographers should be improved to increase the sensitivity of ultrasound examinations in general practice because US diagnosis can avoid the need for laparoscopic investigation (11). In conclusion, it appears from our study that despite development of a standard classification of Mullerian anomalies and progress in radiologic investigations, the diagnosis of these anomalies can be uncertain or delayed by inappropriate initial management.
REFERENCES 1. Raga F, Bauset C, Remohi J, Bonilla-Musoles F, Simon C, Pellicer A. Reproductive impact of congenital Mullerian anomalies. Hum Reprod 1997;12:2277–81. 2. Edmonds DK. Vaginal and uterine anomalies in the paediatric and adolescent patient. Curr Opin Obstet Gynecol 2001;13:463–7. 3. Garcia-Enguidanos A, Calle ME, Valero J, Luna S, Dominguez-Rojas V. Risk factors in miscarriage: a review. Eur J Obstet Gynecol Reprod Biol 2002;102:111–9. 4. Stampe Sorensen S. Estimated prevalence of mullerian anomalies. Acta Obstet Gynecol Scand 1988;67:441–5. 5. Byrne J, Nussbaum-Blask A, Taylor WS. Prevalence of Mullerian duct anomalies detected at ultrasound. Am J Med Genet 2000;94:9–12. 6. Soares SR, Barbosa dos Reis MM, Camargos AF. Diagnosis accuracy of sonohysterography, transvaginal sonography, and hysterosalpingography in patients with uterine cavity diseases. Fertil Steril 2000;73:406–11.
221
7. Fischetti SG, Politi G, Lomeo F, Garozzo G. Magnetic resonance in the evaluation of mu¨llerian ducts anomalies. Radiol Med 1995;89:105–11. 8. Letterie GS, Wilson J, Miyazawa K. Magnetic resonance imaging of mullerian tract abnormalities. Fertil Steril 1988;50:365–6. 9. The American Fertility Society. Classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, mullerian anomalies and intrauterine adhesions. Fertil Steril 1988;49:944–55. 10. Braun P, Grau FV, Pons RM, Enguix DP. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study. Eur J Radiol 2005;53:274–9. 11. McCarthy E. A case report and review of pregnancies in rudimentary non communicating uterine horns. Aus N Z J Obstet Gynaecol 1999;39: 188–90. 12. Kupesi S, Kurjac A, Skenderovic S, Bjelos D. Screening for uterine abnormalities by three-dimensional ultrasound improves perinatal outcomes. J Perinat Med 2002;30:9–17. 13. Simon C, Martinez L, Pardo F, Tortajada M, Pellicer A. Mullerian defects in women with normal reproductive outcome. Fertil Steril 1991;56:1192–3. 14. Jurkovick D, Gruboeck K, Tailor A, Nicolaides KH. Ultrasound screening for congenital uterine anomalies. Br J Obstet Gynaecol 1997;104: 1320–1. 15. Proctor JA, Haney AF. Recurrent first trimester pregnancy loss is associated with uterine septum but not with bicornuate uterus. Fertil Steril 2003;80:1212–5. 16. Alborzi S, Dehbashi S, Parsanezhad ME. Differential diagnosis of septate and bicornuate uterus by sonohysterography eliminates the need for laparoscopy. Fertil Steril 2002;78:176–8.
222
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Diagnosis of Mullerian anomalies
17. Nicolini U, Bellotti M, Bonazzi B, Zamberletti D, Candiani GB. Can ultrasound be used to screen uterine malformations? Fertil Steril 1987;47: 89–93. 18. Fedele L, Ferrazzi E, Dorta M, Vercellini P, Candiani GB. Ultrasonography in the differential diagnosis of ‘‘double’’ uteri. Fertil Steril 1988;50: 361–4. 19. Troiano RN, McCarthy SM. Mullerian duct anomalies: imaging and clinical issues. Radiology 2004;233:19–34. 20. Zanetti E, Ferrari LR, Rossi G. Classification and radiographic features of uterine malformations: hysterosalpingographic study. Br J Radiol 1978;51:161–70. 21. Letterie GS, Haggerty M, Lindee G. A comparison of pelvic ultrasound and magnetic resonance imaging as diagnostic studies for mullerian tract anomalies. Int J Fertil Menopausal Stud 1995;40:34–8. 22. Anguenot JL, Ibecheole V, Salvat J, Campana A. Hematocolpos secondary to imperforate hymen, contribution of transrectal echography. Acta Obstet Gynecol Scand 2000;79:614–5. 23. Wu MH, Hsu CC, Huang KE. Detection of congenital mu¨llerian duct anomalies using three dimensional ultrasound. J Clin Ultrasound 1998;1:631–6. 24. Woelfer B, Salim R, Banerjee S, Elson J, Regan L, Jurkovic D. Reproductive outcomes in women with congenital uterine anomalies detected by three-dimensional ultrasound screening. Obstet Gynecol 2001;98: 1099–103. 25. Shalev J, Meizner I, Bar-Hava I, Dicker D, Mashiach R, Ben-Rafael Z. Predictive value of transvaginal sonography performed before routine diagnosis hysteroscopy for evaluation of infertility. Fertil Steril 2000;73: 412–7.
Vol. 89, No. 1, January 2008
Department of Obstetrics and Gynecology, Marseille Public Hospital System, Marseille, France; and b Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas
Objective: To evaluate the circumstances associated with the diagnosis of Mullerian anomalies in adults. Design: Retrospective observational study. Setting: University hospital. Patient(s): All patients with Mullerian anomalies referred for evaluation. Intervention(s): All patients underwent radiologic and operative diagnostic workup using ultrasonography, or ultrasonography and hysteroscopy, and in some cases laparoscopy. Main Outcome Measure(s): Clinical symptoms and radiologic investigations leading to the diagnosis. Mode and number of investigations before the diagnosis, and the time since the initial symptoms to the final diagnosis. Result(s): One hundred ten patients were diagnosed with Mullerian anomalies: 73 septate uteri, 20 bicornuate uteri, 10 uterine hypoplasia, 4 unicornuate uteri, and 3 with Mayer- Mayer-Rokitansy-Ku¨ster-Hauser syndrome. The circumstances leading to the diagnosis were infertility (33.6%), repeat miscarriage (18.2%), ultrasonography during pregnancy (12.7%), pregnancy complications during last trimester (11%), abnormal examination (8.2%), and miscellaneous causes (16.3%). Up 50% of patients complained of gynecologic signs before the appropriate diagnosis. Radiologic diagnosis required two complementary imaging techniques in 62% of patients and more than two in 28%. The correct diagnosis was established in only 40% of cases before hospitalization. Most of the anomalies were initially diagnosed at hysterosalpingography and ultrasonography. The mean time between the first imaging examination and the diagnosis in a specialized department was 6.7 (7.1) months. Conclusion(s): The diagnosis of Mullerian anomalies in adults is often made at the time of conception and obstetric complications. There is a tendency toward the use of multiple imaging techniques and this delayed the diagnosis. (Fertil Steril 2008;89:219–22. 2008 by American Society for Reproductive Medicine.) Key Words: Mullerian anomalies, uterus, diagnosis, ultrasound, imaging techniques, infertility
The diagnosis of Mullerian duct anomalies in women in their third decade can be difficult to assess and delayed diagnosis can occur even after menarche. Although the reported prevalence in general population is 0.1%–3.8%, it increases to 6.3% in infertile women (1). There are, however, still concerns about the definition and classification of these anomalies, which could lead to an inappropriate and late diagnosis. Most previous studies of uterine anomalies have focused on the diagnosis of these anomalies in childhood and adolescent patients (2, 3). Effectively, congenital obstructive malformations are usually easily detected during adolescence, when young girls experience dysmenorrhea, pelvic pain, or difficulty in inserting tampons. As they do not hamper the ability to conceive like most uterine anomalies and are minor Received December 6, 2006; revised January 31, 2007; accepted February 21, 2007. Reprint requests: Florence Bretelle, M.D., Ph.D., Hoˆpital Nord, Chemin des Bourrely, 13915 Marseille cedex 20, France (FAX: 33-4-91-96-46-96; E-mail: [email protected]).
0015-0282/08/$34.00 doi:10.1016/j.fertnstert.2007.02.044
or nonobstructive, Mullerian duct anomalies are not easy to detect. Thus, most of these anomalies remain unrecognized until there are radiologic explorations for infertility or a history of recurrent obstetric complications. Moreover, the type and clinical symptoms leading to the diagnosis will vary with the type of anomalies (1, 4). The purpose of our study was to evaluate the circumstances associated with the diagnosis and management of Mullerian anomalies in adults.
MATERIALS AND METHODS Medical charts of all patients referred for uterine anomalies to the Department of Obstetrics and Gynecology, Conception University Hospital, Marseille, France, between 1997 and 2002 were retrospectively reviewed. The institutional review board, as defined by French law, was consulted and determined that its approval (Institutional Review Board [IRB]) was unnecessary as patients received standard management
Fertility and Sterility Vol. 89, No. 1, January 2008 Copyright ª2008 American Society for Reproductive Medicine, Published by Elsevier Inc.
219
TABLE 1 Circumstances of diagnosis according to the type of malformation. Uterine Septate Bicornuate hypoplasia uterus Rokitansky Unicornuate (n [ 20) (n [ 10) (n [ 73) (n [ 3) (n [ 4) Repeat early abortion Metrorrhagia Clinical signs Clinical examination Infertility Primary amenorrhea Ultrasonography during pregnancy Pregnancy complications second or third trimester Other a a
2 5 5 3 — 3
3 1 1 1 3 — —
15 3 3 — 28 11
— — — — — 3 —
1
—
11
—
1
1
2
— — — — 3 — —
Total n (%) 20 (18.2) 4 (3.6) 9 (8.2) 6 (5.4) 37 (33.6) 3 (2.7) 14 (12.7) 12 (11)
1
5 (4.6)
Included one case of hydrocolpos and one case of leucorrhea, one case of ectopic pregnancy, and one case of hematometria.
Mazouni. Diagnosis of Mullerian anomalies. Fertil Steril 2008.
without any additional, unusual, or innovative diagnostic or follow-up procedures. Patients with suspected Mullerian tract anomalies underwent a complete workup before additional surgery that included pelvic ultrasonography (US), hysterosalpingography (HSG), tomodensitometry, and in the later years, magnetic resonance imaging (MRI). Pelvic imaging with ultrasound was usually the first imaging procedure used due to its reproducibility and good sensitivity in exploring congenital defects (5), although HSG has been the first method before the advent of US and provides a good evaluation of the uterine cavity and tubal patency (6). The MRI is also associated with a good sensitivity and specificity (7, 8), but rarely used in our department. For ultrasonography and MRI, trained operators with more than 5 years of experience performed all studies and reviewed US and HSG examinations performed at outside institutions. Surgery was usually hysteroscopy and laparoscopy, with additional operative procedures used depending on the type of anomaly. The Mullerian duct defects were specified according to The American Fertility Society (AFS) classification (9) at the time of surgery. A bicornuate uterus was identified by the presence of two well-formed uterine cornua with a convex fundal contour in each and the presence of a fundal indentation greater than 10 mm. A septate uterus was identified by the presence of septum associated with an uniformly convex external contour or with an indentation less than 10 mm. A research fellow interviewed patients by phone between January and June 2003 about the circumstances of diagnosis, the components of the workup ordered by their physician, and the first imaging technique indicating the diagnosis. 220
Mazouni et al.
Diagnosis of Mullerian anomalies
RESULTS Patients and Signs at Diagnosis Mean age at diagnosis was 30.2 years (9.2). The mean time between the first imaging examination and the diagnosis was 6.7 (7.1) months. Of the 110 patients referred for Mullerian anomalies, 4 women had a unicornuate uterus, 20 a bicornuate uterus, 73 a septate uterus, 10 uterine hypoplasia, and 3 Mayer-Rokitansy-Ku¨ster-Hauser syndrome. Table 1 summarizes the circumstances of diagnosis according to the type of malformation. One unicornuate uterus was diagnosed during a cesarean section performed for breech presentation. Clinical signs that led to subsequent investigations included irregular menses, dysmenorrhea, or menorrhagia (n ¼ 7) and leukorrhea in a 76-year-old patient with hydrocolpos. One case of uterine hypoplasia was discovered due to cervical adenosis during follow-up. All patients with dyspareunia had septate vaginas. Three patients with noncommunicating vaginas needed surgical incision for hematometra. Initial Radiologic Management The first imaging study was HSG in 46% of the cases, US in 37.5%, hysteroscopy in 9%, and tomodensitometry 7.5% of cases. A second imaging study was requested in 62.7% of cases; the second complementary examination ordered was HSG in 25%, hysteroscopy in 25%, ultrasound in 41%, and MRI in 9%. A third examination was ordered in 28% of the cases: US in 2, hysteroscopies in 23, and HSG in 5. All of these outside examination were performed before hospitalizations. Vol. 89, No. 1, January 2008
The initial diagnosis of uterine hypoplasia was confirmed by HSG in 70% and by US in 30%. Diagnosis of bicornuate uterus was confirmed by US in 85% of cases and by HSG in the remaining 15%. Diagnosis of unicornuate uterus was confirmed by HSG in one case and by US examination in the others cases. All cases of Mayer-Rokitansy-Ku¨ster-Hauser syndrome were diagnosed by US. For women with septate uterus (n ¼ 73), diagnosis was suspected by HSG in 21.5% and by hysteroscopy in 19.6%. For women with septate uteri, standard ultrasound examinations gave a false diagnosis in 80.8% of the cases.
this low figure may also be different if it reflects the ability to diagnose any type or one specific anomaly (18, 19). Hence, others studies have reported better sensitivity as a function of the type of anomalies (1, 4). Ultrasound examinations by general radiologists in private practice were relevant for unicornuate or bicornuate uterus diagnoses. It seemed also pertinent in establishing the diagnosis of uterine aplasia. However, such examinations were less successful for septate uterus, as already reported (4). Multiple imaging techniques did not improve the sensitivity for detecting uterine malformations in our study. Accurate diagnosis was made in only 40% of the cases by outside studies.
Mode of Final Diagnosis Assessment Based on outside studies, the correct diagnosis was established in only 40% of cases. In contrast, US examinations carried out by hospital staff gynecologists after admission led to a correct diagnosis in all but two cases (98%; one unicornuate uterus and one septate uterus). The MRI provided correct diagnoses in 90% of the cases (n ¼ 15).
The results of previous studies are discordant in their ability to determine the best diagnostic method for the detection of different anomalies. Although HSG is reported as the best examination for diagnosing an arcuate uterus (1, 20), it was less successful for a septate uterus (4). Currently, other imaging techniques are useful in the diagnosis of uterine anomalies (4). We found, as well as other investigators, that MRI should not be systematically used but reserved for particularly complex cases, although its sensitivity is reported to approach 100% (3, 21). Other investigators find that MRI is not sufficient for diagnosis, especially for cases of septate uterus (22). Transrectal ultrasound has been reported to help in defining the pelvic anatomy, which can be especially useful in young patients (23). Finally, three-dimensional ultrasound may be promising when conducted by experienced operators (24). However, these examinations have not been thoroughly evaluated in low-prevalence populations, and such assessment is a necessary precondition for their use in screening of low-risk populations (15, 24, 25).
DISCUSSION Despite progress in ultrasound and new pelvic imaging techniques, late diagnosis of Mullerian anomalies in the third decade is frequent as it accounts for 10% of the causes of primary infertility (10). The course of patients before appropriate diagnosis can be long and difficult as symptoms are varied and nonspecific. Accurate diagnosis of uterine malformations is of importance as it will affect subsequent fertility and pregnancy (11, 12). Difficulty in making an accurate diagnosis might be because of the low prevalence of Mullerian anomalies in the general population (13–15), in particular for nonspecialized physicians. Thus, in our study, more than half of the patients had multiple explorations before final diagnosis. An average of 6 months elapsed between the first examination and final diagnosis. In the present study we observed a wide variation in the presentation and mode of diagnosis as a function of the type of anomaly. One important finding is that difficulty to conceive and pregnancy-related complications represented the two main circumstances leading to the diagnosis. Moreover, the tendency for a first pregnancy at a late age may also contribute to a diagnosis during the third decade. This underlines the need for an appropriate diagnosis of anomalies and identification of potential sites of obstruction. This information will guide the subsequent surgical procedure and help to improve the obstetric outcome. Hence, in a recent report of 20 patients with recurrent pregnancy loss, Alborzi et al. (16) showed that because of the accuracy of HSG, unnecessary additional laparoscopy could be avoided. The sensitivity of ultrasound examination in Mullerian diagnosis has been reported to be as low as 44% (6). The US diagnosis accuracy depends on the patient’s body type, the operator’s experience, and the US scanner used (17). In fact Fertility and Sterility
The training of general practitioners and sonographers should be improved to increase the sensitivity of ultrasound examinations in general practice because US diagnosis can avoid the need for laparoscopic investigation (11). In conclusion, it appears from our study that despite development of a standard classification of Mullerian anomalies and progress in radiologic investigations, the diagnosis of these anomalies can be uncertain or delayed by inappropriate initial management.
REFERENCES 1. Raga F, Bauset C, Remohi J, Bonilla-Musoles F, Simon C, Pellicer A. Reproductive impact of congenital Mullerian anomalies. Hum Reprod 1997;12:2277–81. 2. Edmonds DK. Vaginal and uterine anomalies in the paediatric and adolescent patient. Curr Opin Obstet Gynecol 2001;13:463–7. 3. Garcia-Enguidanos A, Calle ME, Valero J, Luna S, Dominguez-Rojas V. Risk factors in miscarriage: a review. Eur J Obstet Gynecol Reprod Biol 2002;102:111–9. 4. Stampe Sorensen S. Estimated prevalence of mullerian anomalies. Acta Obstet Gynecol Scand 1988;67:441–5. 5. Byrne J, Nussbaum-Blask A, Taylor WS. Prevalence of Mullerian duct anomalies detected at ultrasound. Am J Med Genet 2000;94:9–12. 6. Soares SR, Barbosa dos Reis MM, Camargos AF. Diagnosis accuracy of sonohysterography, transvaginal sonography, and hysterosalpingography in patients with uterine cavity diseases. Fertil Steril 2000;73:406–11.
221
7. Fischetti SG, Politi G, Lomeo F, Garozzo G. Magnetic resonance in the evaluation of mu¨llerian ducts anomalies. Radiol Med 1995;89:105–11. 8. Letterie GS, Wilson J, Miyazawa K. Magnetic resonance imaging of mullerian tract abnormalities. Fertil Steril 1988;50:365–6. 9. The American Fertility Society. Classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, mullerian anomalies and intrauterine adhesions. Fertil Steril 1988;49:944–55. 10. Braun P, Grau FV, Pons RM, Enguix DP. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study. Eur J Radiol 2005;53:274–9. 11. McCarthy E. A case report and review of pregnancies in rudimentary non communicating uterine horns. Aus N Z J Obstet Gynaecol 1999;39: 188–90. 12. Kupesi S, Kurjac A, Skenderovic S, Bjelos D. Screening for uterine abnormalities by three-dimensional ultrasound improves perinatal outcomes. J Perinat Med 2002;30:9–17. 13. Simon C, Martinez L, Pardo F, Tortajada M, Pellicer A. Mullerian defects in women with normal reproductive outcome. Fertil Steril 1991;56:1192–3. 14. Jurkovick D, Gruboeck K, Tailor A, Nicolaides KH. Ultrasound screening for congenital uterine anomalies. Br J Obstet Gynaecol 1997;104: 1320–1. 15. Proctor JA, Haney AF. Recurrent first trimester pregnancy loss is associated with uterine septum but not with bicornuate uterus. Fertil Steril 2003;80:1212–5. 16. Alborzi S, Dehbashi S, Parsanezhad ME. Differential diagnosis of septate and bicornuate uterus by sonohysterography eliminates the need for laparoscopy. Fertil Steril 2002;78:176–8.
222
Mazouni et al.
Diagnosis of Mullerian anomalies
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Vol. 89, No. 1, January 2008