O-005 Mullerian anomalies overview

text Mullerian Duct Anomalies- An Overview Prof. Sudha Prasad President Indian Fertility Society, Director, Matritava Advanced IVF & Training Centre, New Delhi, India Congenital anomalies of the mullerian duct system is one of the complex disorder encountered in gynecological practice. Mullerian ducts are paired embryological structures which undergo fusion and resorption in utero to form the uterus, fallopian tubes, cervix and upper two-thirds of the vagina. Disruption in the mullerian duct development throughout embryogenesis could result a large spectrum of inherent abnormalities identified as mullerian duct anomalies (MDAs). There is a wide variation in the prevalence of MDAs across various studies, ranging from 1–10% in the general population to 2–8% among infertile women and 5–30% among women with a history of miscarriage. These discrepancies in the reported prevalence are mainly attributed to lack of a universal classification system. Different varieties of malformations can occur when this system is not well developed. It ranges from absence of uterus, cervix or vagina, septum/duplication of vagina to of the uterus and vagina to minor uterine cavity abnormalities. Mullerian malformations are frequently associated with abnormalities of the renal and axial skeletal systems. Therefore, on initial examination of MDAs patients, these points should be kept in mind. Most mullerian duct anomalies (MDAs) are associated with functioning ovaries and age-appropriate external genitalia. These abnormalities are often recognized after the onset of puberty. After the onset of puberty, young women often present to the gynecologist with menstrual disorders. Late presentations include infertility and obstetric complications. A meta-analysis of nine studies comprising 3805 women with congenital uterine anomalies reviewed the obstetric outcome. The study reported that canalization defects such as septate and partial septate uteri had reduce fertility and increase rates of miscarriage and preterm delivery. None of the unification defects (bicornuate, unicornuate and didelphic uteri) reduce fertility but some are related to miscarriage and prematurity. Arcuate uteri are specifically associated with second-trimester miscarriage. All uterine abnormalities increase the risk of fetal malformation during delivery1. A retrospective longitudinal study concluded that reproductive performance of the unicornuate and didelphys uteri was poor (20–30% chance of carrying a pregnancy to term), while that of the septate and bicornuate uteri (live birth rate of 62%) was better than expected. The arcuate uterus had no impact on reproductive performance of women2. Agenesis of uterus and vagina requires surgical techniques, such as the Vecchietti and McIndoe procedures, have enabled many women to have normal sexual relations. Uterine transplant has changed the perspective of all other surgical advances and assisted reproductive technologies to improve fertility and obstetric outcomes3, 4,5.

O-006 Diagnosis debate – USG vs endoscopy

text MULLERIAN ANOMAIES – DEBATE USG OR ENDOSCOPY Mullerian duct anomalies are a complex spectrum of congenital anomalies resulting from defective fusion or canalization leading to different uterine anomalies. Early detection and proper diagnosis of uterine anomalies are paramount for proper management. Outflow obstruction defects like transvers septal defects or non canalised functional horn present early with complaint of pain while rest of patients present with amenorrhoea , infertility, repeated first-trimester abortion, fetal intrauterine growth restriction, and obstetric complications.The prevalence of uterine malformations is variable depending on the population studied , 0.4% , 4 % respectively in the general population and in infertile women while a high prevalence between 3 and 38% is reported in patients with repeated spontaneous miscarriages. Imaging plays an important role in diagnosis and treatment planning in mullerian duct anomalies. There are different imaging and endoscopic modalities that can be used for the diagnosis and confirmation of uterine malformations. All modalities are having limitations and one need to select and combine various modalities depending on the clinical presentation of patient and pelvic examination. In younger patients or acute cases, trans abdominal ultrasonography (US) is the preferred method because it is readily available, inexpensive, and rapid and does not use ionizing radiation. However it may not give the complete picture because of poor demarcation especially in fatty patient and owing to complex nature of defects , Field-of-view restrictions with US, patient body habitus, and artefact from bowel gas. Pelvic magnetic resonance imaging (MRI) is an excellent tool in the diagnosis of Mullerian duct anomalies due to high soft tissue resolution. But it is more expensive and less available. 3D ultrasound may be a valid alternative to pelvic MRI as It is less expensive and better tolerated by patients however in doubtful cases of complex nature , hysteroscopy combined with laparoscopy may be considered to confirm the diagnosis. Another advantage of endoscopy is the opportunity to correct the defect in the same sitting in most of the cases. Hysterosalpingography (HSG) and hysteroscopy are considered good modalities to assess the uterine cavity. Hysteroscopy provide the direct visualisation of the defect and considered as gold standard for cavity evaluation in doubtful cases of septate and bicornuate uterus and for simultaneous correction. However outer contour cannot be visualised so one need to use laparoscopy for complete evaluation which is a major drawback. Three-dimensional transvaginal sonography provides image quality like those provided by MRI and is being extensively used for diagnosis of all sorts of mullerian defects. it has got the advantage of realtime imaging which is helpful in distorted pelvic anatomy , visualisation of outer contour is possible ,which is considered very important to differentiate between bicornuate and septate uterus and unicornuate uterus with rudimentary horn. however it may not be possible in all cases to get a definitive diagnosis inspite of using a high end 3D machine specially in presence of artefacts , distorted contour and retroverted uterus. In such cases both modalities including MRI and endoscopy may be required to reach to a definitive diagnosis. It can be concluded that primary imaging tool is still 2d ultrasound but 3D TVS should be included in all suspected anomalies along with complete careful pelvic examination to corroborate the findings of USG. In doubt ful or complex cases, MRI should be performed particularly for cervical and vaginal atresia and septum. endoscopy should be reserved for all doubtful cases for confirmation and for acute cases where a corrective surgery can also be planned to relieve the distress.

Studying Müllerian duct anomalies – from cataloguing phenotypes to discovering causation

ABSTRACT Müllerian duct anomalies (MDAs) are developmental disorders of the Müllerian duct, the embryonic anlage of most of the female reproductive tract. The prevalence of MDAs is 6.7% in the general female population and 16.7% in women who exhibit recurrent miscarriages. Individuals affected by these anomalies suffer from high rates of infertility, first-trimester pregnancy losses, premature labour, placental retention, foetal growth retardation and foetal malpresentations. The aetiology of MDAs is complex and heterogeneous, displaying a range of clinical pictures that generally lack a direct genotype-phenotype correlation. De novo and familial cases sharing the same genomic lesions have been reported. The familial cases follow an autosomal-dominant inheritance, with reduced penetrance and variable expressivity. Furthermore, few genetic factors and molecular pathways underpinning Müllerian development and dysregulations causing MDAs have been identified. The current knowledge in this field predominantly derives from loss-of-function experiments in mouse and chicken models, as well as from human genetic association studies using traditional approaches, such as microarrays and Sanger sequencing, limiting the discovery of causal factors to few genetic entities from the coding genome. In this Review, we summarise the current state of the field, discuss limitations in the number of studies and patient samples that have stalled progress, and review how the development of new technologies provides a unique opportunity to overcome these limitations. Furthermore, we discuss how these new technologies can improve functional validation of potential causative alterations in MDAs.

Acute Kidney Injury After Sigmoid Vaginoplasty Procedure In Mullerian Duct Anomalies: A Case Report

Background: Development of female genital tract is a complex process and dependent upon a series of events involving cellular differentiation, migration, fusion, and canalization. Mullerian Duct Anomalies (MDA) are uncommon congenital anomalies, but can vary widely and treatable with surgical procedure. Classification system that have been used are classification from American Society for Reproductive Medicine (ASRM) and European Society of Human Reproduction and Embriology (ESHRE) and European Society for Gynaecological Endoscopy (ESGE). Surgical procedure in MDA patient had a high successful rate, but postoperative complication can arise in form of the need for further surgical requirement and acute kidney injury. Case report: A 20 year old girl admitted to obstetric gynecologic clinic with complaints of abdominal pain, amenorrhea, and redness voiding. She experienced abdominal pain since 6 years ago. Previously, patient had history of vaginal drainage procedure when she was 14 years old but she did not felt improvement in complaint and symptom. Cystoscopy and radiology imaging showed vaginal agenesis and renal dekstra agenesis, subsequently patient was planned for a sigmoid vaginoplasty procedure. Identification and exploration during surgery revealed vaginal agenesis, renal dekstra agenesis, hematometra from hemiuterus dekstra, hemiuterus sinistra with asesorius or hipoplasia uterine and hematosalping dekstra. In 5 days post operative, patient suffer anuria and acute kidney injury complication. Acute kidney injury after major surgery involving gastrointestinal was common because of surgical stress response, and agenesis renal condition aggravates this complication.

Various Müllerian-duct anomalies in Women at Rural Tertiary Care Center of Northern India: An Observational Study

Aims: Present study was conducted to know presentations and nature of Müllerian-duct anomalies in rural women. Background: Müllerian anomalies are congenital defects of female reproductive tract resulting from faulty development and fusion of Müllerian ducts. Objectives: To identify common Müllerian anomalies, their presentation, radiological appearances, complications, associated renal anomalies in rural women of Northern India. Methods: Present observational study was conducted on 181 female patients with suspected Müllerian anomalies presenting to the outpatient department of Obstetrics and Gynecology with various complaints. Data included age, religion, menarche, previous pregnancy if any, duration of infertility, presenting complaints, type of Müllerian anomaly, incidental or symptomatic, diagnostic method, associated anomalies. Statistical analysis was done using SPSS 22.0 version software. Results: Of 181 patients, 16.5% were adolescents, 83.5% adult women with an overall mean (SD) age of 25.02 (5.96) years. Of these, 170 had true Müllerian-duct anomalies and 11 had defects other than Müllerian anomalies, hence excluded. Total 158(92.9%) patients were symptomatic and 12(7.1%) asymptomatic at presentation. The majority (75.9%) were diagnosed incidentally during their visit to the department for various complaints of which infertility (32.4%) was most common. Septate uterus (29.4%) was most common anomaly diagnosed followed by Müllerian agenesis/hypoplasia (22.9%). Around 11.2% cases had associated renal and collecting system anomalies with unilateral renal agenesis (47.4%) being most common. Conclusion: Hence, Müllerian-duct anomalies have diverse presentations and most of them are diagnosed incidentally. Other: The exact prevalence of Müllerian-duct anomalies may be high, especially in rural India due to lack of knowledge and societal pressures.

Müllerian duct anomalies with term pregnancy: a case report

Background Müllerian duct anomaly is a rare condition. Many cases remain unidentified, especially if asymptomatic. Thus, it is difficult to determine the actual incidence. Müllerian duct anomaly is associated with a wide range of gynecological and obstetric complications, namely infertility, endometriosis, urinary tract anomalies, and preterm delivery. Furthermore, congenital anomalies in pregnant mothers have a high risk of being genetically transmitted to their offspring. Case presentation We report a case of a patient with unsuspected müllerian duct anomaly in a term pregnancy. A 33-year-old Malay woman with previously uninvestigated involuntary primary infertility for 4 years presented with acute right pyelonephritis in labor at 38 weeks of gestation. She has had multiple congenital anomalies since birth and had undergone numerous surgeries during childhood. Her range of congenital defects included hydrocephalus, for which she was put on a ventriculoperitoneal shunt; imperforated anus; and tracheoesophageal fistula with a history of multiples surgeries. In addition, she had a shorter right lower limb length with limping gait. Her physical examination revealed a transverse scar at the right hypochondrium and multiple scars at the posterior thoracic region, levels T10–T12. Abdominal palpation revealed a term size uterus that was deviated to the left, with a singleton fetus in a nonengaged cephalic presentation. The cervical os was closed, but stricture bands were present on the vagina from the upper third until the fornices posteriorly. She also had multiple rectal prolapses and strictures over the rectum due to previous anorectoplasty. An emergency cesarean delivery was performed in view of the history of anorectoplasty, vaginal stricture, and infertility. Intraoperative findings showed a left unicornuate uterus with a communicating right rudimentary horn. Conclusion Most cases of müllerian duct anomaly remain undiagnosed due to the lack of clinical suspicion and the absence of pathognomonic clinical and radiological characteristics. Because it is associated with a wide range of gynecological and obstetric complications, it is vital for healthcare providers to be aware of its existence and the role of antenatal radiological investigations in its diagnosis. The presence of multiple congenital abnormalities and a history of infertility in a pregnant woman should warrant the exclusion of müllerian duct anomalies from the beginning. Early detection of müllerian duct anomalies can facilitate an appropriate delivery plan and improve the general obstetric outcome.