The accuracy of three-dimensional ultrasonography in the diagnosis of Müllerian duct anomalies and its concordance with magnetic resonance imaging.

This retrospective study was performed to comparatively evaluate the diagnostic accuracies of three-dimensional ultrasonography (3D-US) and magnetic resonance imaging (MRI) for identification of Müllerian duct anomalies (MDAs). A total of 27 women with suspected MDAs underwent gynaecological examination, 2D-US, 3D-US and MRI, respectively. The MDAs were classified with respect to the European Society of Human Reproduction and Embryology-European Society for Gynaecological Endoscopy (ESHRE/ESGE) and American Society of Reproductive Medicine (ASRM) systems. Based on the ESHRE/ESGE classification, there was a discrepancy for only one patient between US and MRI. Thus, the concordance between US and MRI was 26/27 (96.3%). With respect to ASRM classification, there was a disagreement between MRI and 3D-US in three patients, thus the concordance between MRI and 3D-US was 24/27 (88.9%). To conclude, the 3D-US has a good level of agreement with MRI for recognition of MDAs.Impact StatementWhat is already known on this subject? Müllerian duct anomalies (MDAs) are relatively common malformations of the female genital tract and they may adversely affect the reproductive potential. The establishment of accurate and timely diagnosis of these malformations is critical to overcome clinical consequences of MDAs.What the results of this study add? The concordance between US and MRI for diagnosis of MDAs based on ESHRE-ESGE classification and ASRM were 96.3% and 88.9%, respectively. These results indicate that 3D US has a satisfactory level of diagnostic accuracy for MDAs and it can be used in conjunction with MRI. Minimisation of diagnostic errors is important to improve reproductive outcome and to avoid unnecessary surgical interventions.What the implications are of these findings for clinical practice and/or further research? Efforts must be spent to eliminate the discrepancies between the clinical and radiological diagnosis of MDAs. Further trials should be implemented for establishment and standardisation of radiological images for identification and classification of MDAs.

ASRM müllerian anomalies classification 2021.

There are many proposed classification systems for müllerian anomalies. The American Fertility Society (AFS) Classification from 1988 has been the most recognized and utilized. The advantages of this iconic classification include its simplicity, recognizability, and correlation with clinical pregnancy outcomes. However, the AFS classification has been criticized for its focus primarily on uterine anomalies, with exclusion of those of the vagina and cervix, its lack of clear diagnostic criteria, and its inability to classify complex aberrations. Despite this classification and others, the wide range of müllerian anomalies is still largely unknown and confusing to many providers. Consequently, müllerian anomalies may go undiagnosed for extended periods, receive inappropriate or inadequate surgical interventions, and result in persistent issues such as pain or loss of reproductive function. The American Society for Reproductive Medicine Task Force on Müllerian Anomalies Classification was formed and charged with designing a new classification. The Task Force set goals for a new classification and chose to base it on the iconic AFS classification from 1988 because of its simplicity and recognizability, while expanding and updating it to include all categories of anomalies. In addition, this was recognized as an opportunity to raise awareness of this area of medicine, educate providers and learners, and promote patient advocacy. Presented here is the new American Society for Reproductive Medicine Müllerian Anomalies Classification 2021.

Diagnóstico prenatal de anomalías nefrourológicas en el Centro de Referencia Perinatal Oriente, Santiago, Chile / Prenatal diagnosis of nefrourological anomalies at the Eastern Perinatal Referral Center, Santiago, Chile

INTRODUCCIÓN: Las anomalías congénitas de los riñones y las vías urinarias (CAKUT, Congenital Anomalies of the Kidney and Urinary Tract) representan un 20-30% de las anomalías detectadas en el periodo prenatal. Si bien la mayoría son de buen pronóstico, un 25% se asocian a enfermedad renal crónica en la infancia y en los casos graves a mortalidad perinatal. OBJETIVO: Describir los casos ingresados al Centro de Referencia Perinatal Oriente (CERPO) y determinar los resultados perinatales y la sobrevida al año. MÉTODO: Estudio descriptivo y retrospectivo. Se incluyeron pacientes ingresadas en la base de datos CERPO, entre los años 2003 y 2019, con diagnóstico de anomalía nefrourológica. Se incluyeron antecedentes prenatales, perinatales y de seguimiento posnatal al año. RESULTADOS: Se evaluaron 273 pacientes. La edad gestacional promedio de derivación fue de 29 semanas + 2 días. El diagnóstico más frecuente fueron las anomalías del tracto de salida (69%). Un 40% de los casos se asociaron a otras anomalías congénitas, siendo las cardiopatías las más frecuentes (19%). Aceptaron la realización de estudio genético invasivo 38 pacientes, de las cuales un 34% presentaron aneuploidías, siendo las trisomías 18 y 13 las más frecuentes (17% y 6%, respectivamente). Se instalaron cinco shunts derivativos vesicoamnióticos en fetos diagnosticados con megavejiga. La sobrevida global para la patología nefrourológica fue del 63% al año, y la mortalidad fetal y neonatal fue del 7% y el 16%, respectivamente. La sobrevida al año según el grupo de clasificación CAKUT fue del 22% para las anomalías de número de riñones, del 46% para las anomalías de tamaño y de morfología renal, del 60% para las anomalías de la posición renal y del 72% para las anomalías del tracto de salida. En este último grupo, la sobrevida alcanza el 81% al excluir los pacientes con diagnóstico prenatal de megavejiga, que presentaron una sobrevida al año del 28%. Los casos de patología nefrourológica asociada a oligohidramnios (índice de líquido amniótico < 5 cm) sin evidencias de uropatía obstructiva asociada presentaron una sobrevida al año del 3%. CONCLUSIONES: Las anomalías del sistema nefrourológico son un diagnóstico prenatal frecuente. La sobrevida al año fue del 63%, pero es necesario prolongar el seguimiento a largo plazo para determinar la evolución de la función renal en cada diagnóstico. La asociación de patología nefrourológica y oligohidramnios conlleva una sobrevida menor.

INTRODUCTION: Congenital anomalies of the kidneys and urinary tract (CAKUT) represent 20 to 30% of the anomalies detected prenatally. Although most are of good prognosis, 25% are associated with chronic kidney disease in childhood and severe cases with perinatal mortality. OBJECTIVE: To describe the cases studied in the Eastern Perinatal Referral Center (CERPO) and to determine the perinatal outcome and survival at one year. METHOD: Descriptive and retrospective study. Patients registered on the CERPO database, between 2003 to 2019, with diagnosis of nephrourological anomaly were included. Antenatal, perinatal and postnatal follow-up information was collected. RESULTS: 273 patients were evaluated. The average gestational age at referral was 29 + 2 weeks. The main diagnosis was urinary tract outlet disorders (69%). Thirty nine percent of the cases were associated with other congenital anomalies, with heart disease being the most frequent (19%). Thirty-eight patients accepted an invasive procedure for genetic study, 34% presented aneuploidy, trisomy 18 and 13 were the most frequent (17% and 6% respectively). Five vesico-amniotic derivative shunts were installed in fetuses diagnosed with megabladder. Overall survival at one year was 63% and fetal and neonatal mortality were 7% and 16% respectively. One-year survival per group according to CAKUT classification was 22% in kidney number abnormalities, 46% in kidney size and morphology abnormalities, 60% in renal position abnormalities and 72% in outflow tract abnormalities. In the latter, survival reaches 81% excluding the patients with prenatal diagnosis of megabladder who had a one-year survival of 28%. The cases of nephrourological pathology associated with oligohydramnios (amniotic fluid index < 5 cm) without evidence of associated obstructive uropathy presented a survival of 3% at one year. CONCLUSIONS: The anomalies of the nephrourological system correspond to a frequent prenatal diagnosis. Overall, the one-year survival was 63%; however, follow-up must continue to determine the evolution of renal function in relation to each diagnosis.

A Review of Mullerian Anomalies and Their Urologic Associations.

Structural anomalies of the female reproductive tract, known as Mullerian anomalies, can occur in isolation or in association with anomalies of other organ systems. Due to shared embryology, the most common association in up to 40% of patients is with renal, ureteral, and bladder anomalies. Affected girls can have a wide range of genitourinary symptoms with urologists playing an integral role in their diagnosis and treatment. To facilitate the recognition and management of these conditions, we provide a review of Mullerian anomalies including the embryology, classifications, syndromes, evaluation, and treatments with attention to their urologic applicability.

Primary amenorrhea in females attending gynaecological outpatient of a tertiary care hospital at Peshawar.

OBJECTIVE: To determine the aetiological factors of amenorrhea. METHODS: The pilot cross-sectional study was conducted in Government Naserullah Khan Babar Memorial Hospital, Peshawar, Pakistan, from January 2015 to December 2017, and comprised amenorrhea cases. Cases were analysed according to their clinical profile, ultrasound findings and biochemical tests. Data was analysed using SPSS 20. RESULTS: There were 100 patients with a mean age of 22.17±5.52 years (range: 14-36 years). Anatomical defects were the most common cause in 60(60%) patients. Imperforate hymen and transverse vaginal septum were found in 7(7%), 7(7%) patients each, while mullerian abnormalities were found in 46(46%) patients. Hypergonadotropic hypogonadism and polycystic ovarian syndrome were found in 17(17%) patients each. CONCLUSIONS: Anatomical defects were found to be the most common cause among amenorrhea patients.

Reproductive Implications and Management of Congenital Uterine Anomalies: Scientific Impact Paper No. 62 November 2019.

Congenital uterine anomalies (CUAs) are malformations of the womb that develop during fetal life. When a baby girl is in her mother's womb, her womb develops as two separate halves from two tubular structures called 'müllerian ducts', which fuse together before she is born. Abnormalities that occur during the baby's development can be variable from complete absence of a womb through to more subtle anomalies, which are classified into specific categories. While conventional ultrasound is good in screening for CUAs, 3D ultrasound is used to confirm a diagnosis. If a complex womb abnormality is suspected, MRI scanning may also be used, with a combination of laparoscopy in which a camera is inserted into the cavity of the abdomen, and hysteroscopy, when the camera is placed in the womb cavity. As there can be a link between CUAs and abnormalities of the kidney and bladder, scans of these organs are also usually requested. Although CUAs are present at birth, adult women typically do not have any symptoms, although some may experience painful periods. Most cases of CUA do not cause a woman to have difficulty in becoming pregnant and the outcome of pregnancy is good. However, these womb anomalies are often discovered during investigations for infertility or miscarriage. Moreover, depending upon the type and severity of CUA, there may be increased risk of first and second trimester miscarriages, preterm birth, poor growth of the baby in the mother's womb (fetal growth restriction), pre-eclampsia and difficult positioning of the baby for birth (fetal malpresentation). Surgical treatment is only recommended to a woman who has had recurrent miscarriages and has a septate uterus, i.e., the womb cavity is divided by a partition. In this case, surgery may improve her chances for a successful pregnancy, although the risks of surgery, especially scarring of the womb should be considered. However, further evidence from randomised controlled trials are required to provide conclusive evidence-based recommendations for surgical treatment for septate uterus. Surgical treatment for other types of CUAs is not usually recommended as the risks outweigh potential benefits, and evidence for any benefits is lacking. Women with CUAs may be at an increased risk of preterm birth even after surgical treatment for a septate uterus. These women, if suspected to be at an increased risk of preterm birth based on the severity of CUA, should be followed up using an appropriate protocol for preterm birth as outlined in UK Preterm Birth Clinical Network Guidance.1 >.

Uterine anomalies and endometriosis.

INTRODUCTION: Endometriosis is a common disease in women of reproductive age. In addition to causing pain, it may also reduce fertility. The coexistence of endometriosis and congenital uterine anomalies (CUA) has been frequently reported in the published literature. The present report is a review of existing studies on the subject and our own hitherto unpublished data. EVIDENCE ACQUISITION: The electronic search was conducted using the Pubmed database with specific keyword combinations including endometriosis, adenomyosis, infertility, Müllerian malformations/anomalies, and septate uterus. The principal aspects addressed in the present study were: diagnosis, management, and classification of CUA, their impact on fertility and coexistence with endometriosis. EVIDENCE SYNTHESIS: Endometriosis and CUA are frequently detected in the exploration of infertility, because both of these are liable to impair fertility. Endometriosis is associated with obstructive anomalies and nonobstructive malformations, especially those concerning the septate uterus. The diagnosis and management of CUA have been discussed for several years. Various classification systems have been proposed. CONCLUSIONS: The analysis of the existing literature has revealed the absence of any consensus about the management, diagnosis, and classification of CUA, especially with regard to the septate uterus. We need to find and speak a common language in order to avoid inappropriate or unnecessary surgery and optimize the individual patient's treatment. The combined presence of endometriosis or adenomyosis and CUA is a reason to perform precise diagnostic imaging investigations and early surgery for the purpose of enhancing the chances of pregnancy in infertile patients. Further research is needed on the subject.

Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children.

OBJECTIVES: To evaluate the clinical spectrum and patterns of clinical presentation in congenital anomalies of kidney and urinary tract. METHODS: We enrolled 307 consecutively presenting children with congenital anomalies of kidney and urinary tract at the pediatric nephrology clinic. Patients were evaluated clinically, with serum biochemistry, appropriate imaging and radionuclide scans. RESULTS: The most common anomaly was primary vesicoureteric reflux (VUR) (87, 27.3%), followed by pelviureteral junction obstruction (PUJO) (62,20.1%), multicystic dysplastic kidney (51 16.6%), non-obstructive hydronephrosis (32, 10.4%) and posterior urethral valves (PUV) (23, 7.4%). 247 (80.4%) anomalies had been identified during the antenatal period. Another 33 (10.7%) were diagnosed during evaluation of urinary tract infection, and 21 (6.8%) during evaluation for hypertension at presentation. Obstructive anomalies presented earlier than non-obstructive (7 (3, 22.5) vs 10 (4, 24) mo: (P=0.01)). The median (IQR) ages of presentation for children with PUV (n=23), VUR (n=87) and PUJO (n=62) were 4 (2, 14) mo, 10 (5, 27) mo, and 7 (3, 22.5) mo, respectively. Nine (2.9%) children had extrarenal manifestations. CONCLUSIONS: The median age at clinical presentation for various subgroups of anomalies indicates delayed referral. We emphasize the need for prompt referral in order to initiate appropriate therapeutic strategies in children with congenital anomalies of kidney and urinary tract.

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end-stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities. Prenatal diagnosis most often occurs using ultrasonography; however, further genetic diagnosis may be made using a variety of testing strategies. Family history and pathologic examination can also provide information to improve the ability to make a prenatal diagnosis of CAKUT. Here, we provide a comprehensive overview of genetic considerations in the prenatal diagnosis of CAKUT disorders. Specifically, we discuss monogenic causes of CAKUT, associated ultrasound characteristics, and considerations for genetic diagnosis, antenatal care, and postnatal care.

Three-dimensional ultrasound in the diagnosis and the classification of congenital uterine anomalies using the ESHRE/ESGE classification: a diagnostic accuracy study.

STUDY OBJECTIVE: To estimate the diagnostic accuracy of three-dimensional ultrasonography (3D US) compared to hysteroscopy/laparoscopy, in the investigation of uterine congenital anomalies using the ESHRE/ESGE classification of female genital tract congenital anomalies. DESIGN: Prospective blind, comparative, cohort study. SETTING: University Tertiary Hospital and affiliated private Hospital. PATIENTS AND METHODS: Sixty-two women consecutively referred with a suspected diagnosis of uterine congenital anomalies. The ESHRE/ESGE classification of congenital anomalies of the female genital tract was used for the description of abnormal findings. INTERVENTIONS: All patients underwent (1) 3D US and (2) hysteroscopy with laparoscopy to establish the final diagnosis. RESULTS: Concordance between 3D US and hysteroscopy with laparoscopy about the type and the classification of uterine anomaly was verified in 61 cases, including all those with septate uterus, dysmorphic uterus, bicorporeal, hemi-uterus or unicorporeal, and aplastic uterus and one out of two with normal uterus. For the diagnosis of septate uteri, which was the most common anomaly, the sensitivity of 3D US was 100%, the specificity was 92.3%, the PPV was 98% and the NPV was 100%, with kappa index 0.950. For bicorporeal, dysmorphic uterus, hemi-uteri or unicorporeal and aplastic uterus the sensitivity, specificity, PPV and NPV were all 100% with K = 1.00. Overall, 3D US showed perfect diagnostic accuracy (Kappa index = 0.945) in the detection of congenital uterine anomalies. CONCLUSION: 3D US appears to be a very accurate method for the diagnosis of congenital uterine anomalies.

[Value of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome].

Objective: To explore the role of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome (OVSS) . Methods: A retrospective analysis of the clinical records and pre-operative MRI images of 19 patients with surgery proved OVSS was carried out. Two experienced radiologists reviewed the pre-operative pelvic MRI of the 19 patients in consensus blind to the surgery results. Characteristics including malformations of the uterus, cervix and vagina, the diagnosis of the disorder and classification were evaluated. Pre-operative MRI diagnosis and classification were correlated with surgical findings. Results: Mean age of onset of symptoms for the 19 patients was 15 years (ranged 9-25 years) , and mean age of menarche was 12 years. Ten patients suffered from dysmenorrhea or lower abdominal pain, 5 patients complained of vaginal discharge, 3 patients had a history of irregular menstruation, 1 patient suffered from primary infertility. All 19 patients showed uteri didelphys. Eighteen patients showed vaginal oblique septum.One patient showed cervical atresia.MRI was completely correlated with the surgery in the pre-operative diagnosis of OVSS. MRI classification was in line with surgery in 17 patients, including 9 patients with imperforate septum (typeⅠ) , 6 patients with perforate septum (type Ⅱ) , 1 patient with imperforate septum and cervical fistula (type Ⅲ) , and another one with cervical agenesis (type Ⅳ) . One case of type Ⅱ was misdiagnosed as type Ⅰ, another one of type Ⅰ was misdiagnosed as type Ⅲ. Pre-operative MRI classification was correlated with surgery in 17 out of 19 patients. Conclusion: Pre-operative MRI allows excellent manifestation and accurate diagnosis of OVSS, and could also facilitate the evaluation of the classification.

ESHRE-ESGE versus ASRM classification in the diagnosis of septate uterus: a retrospective study.

BACKGROUND: The European Society of Human Reproduction and Embryology-European Society for Gynaecological Endoscopy (ESHRE-ESGE) system is designed mainly for clinical orientation; its overdiagnosis of septate uteri was confirmed in a general population in comparison to the American Society of Reproductive Medicine (ASRM) supplemental classification proposed by Ludwin. However, the agreement among septate uterus recognition using the ESHRE-ESGE and the supplemental ASRM classifications and the rate of overdiagnosis of septate uterus by ESHRE-ESGE in infertile women remain unclear. METHODS: We conducted a retrospective study of 53,540 infertile patients in our reproductive centre from June 2013 to December 2016, to compare septate uterus recognition using three systems. The data were analysed by the ESHRE-ESGE system, the ASRM by Salim and the ASRM by Ludwin separately. The concordance of diagnoses of septate uteri using these three systems was compared. RESULTS: ESHRE-ESGE classification significantly increased the frequency of septate uteri (11.31%, 6056 vs. 7.20%, 3854 vs. 3.80%, 2034). Good agreement was observed between the ESHRE-ESGE and the ASRM by Salim (k = 0.686, p < 0.001) and between the ASRM by Salim and that by Ludwin (k = 0.671, p < 0.001), while moderate agreement was found between the ESHRE-ESGE and ASRM by Ludwin systems (k = 0.444, p < 0.001). These results suggest that Ludwin's criteria are the strictest, while the ESHRE-ESGE system is much more relaxed for septate uterus diagnosis. CONCLUSION: A risk of overtreatment may also exist in infertile patients when using the ESHRE-ESGE system. Therefore, the ESHRE-ESGE system should be used with caution when guiding hysteroscopic metroplasty in infertile patients.

Rater reliability of postnatal urinary tract dilation consensus classification.

BACKGROUND: A multidisciplinary urinary tract dilation (UTD) classification system was published in 2014 to standardize definitions and renal/bladder ultrasound image interpretation. OBJECTIVE: To evaluate intra- and inter-rater reliability of this system on postnatal RBUS. MATERIALS AND METHODS: Renal/bladder US of 60 infants (<12 months) with urinary tract dilation were anonymized, retrospectively reviewed and scored twice using the UTD classification system by a pediatric urologist and four pediatric radiologists. Exams included supine and prone images of each kidney. Raters recorded the anterior posterior renal pelvis diameter in each position; and when present calyceal dilation (central and peripheral), ureteral dilation, parenchymal and bladder abnormalities. A UTD score was given to each kidney based on these components. RESULTS: Intraclass correlation (ICC) of anterior posterior renal pelvis diameter measures was 0.99 (P<0.001). Intra-rater reliability for the anterior posterior renal pelvis diameter of each kidney was high, with ICC >0.95 (P<0.001). Inter-rater kappa values for UTD scores of both kidneys ranged from 0.60 to 0.77 (P <0.001). Intra-rater kappa values for UTD scores of both kidneys ranged from 0.74 to 0.92 (P <0.001). Of the six categories comprising the UTD score, discrepancy between raters was highest for interpretation of central and peripheral calyceal dilation. CONCLUSION: Present inter- and intra-rater reliability findings were similar to those previously reported for grading systems for urinary tract dilation. Across these studies, kappa values are generally lower than the 0.8 cut-off advocated for medical measures. Here, calyceal dilation commonly determined the kidney UTD score and was also the source of greatest discrepancy between raters. Improving consistency of calyceal dilation interpretation may improve UTD consensus score reliability.

Female genital tract congenital malformations and the applicability of the ESHRE/ESGE classification: a systematic retrospective analysis of 920 patients.

PURPOSE: Several classification systems for female genital tract anomalies exist but are of limited use in clinical practice. We, therefore, assessed the applicability and ease of use of the new ESHRE/ESGE classification, using only patient records. METHODS: This retrospective, single-center, proof-of-principle study systematically analyzed the surgical reports and other hospital records of 920 inpatients and outpatients treated for confirmed female genital tract congenital malformations at a major German university hospital during 2003-2013. Using only this information, a non-expert (medical student) assigned patients to an ESHRE/ESGE class, rating ease of classification based on the time and the number of additional medical records required. Results were verified by an expert gynecologist, who also classified any malformations previously left unclassified. Data analysis used descriptive statistics. RESULTS: The non-expert successfully classified 859/920 patients (93.4%), rating classification as "easy" for 836/859 (90.9%) and "moderately difficult" for 23/859 (2.5%) patients. The expert gynecologist successfully classified 60 (60/920, 6.5%) of the remaining 61 patients rated as "difficult" by the non-expert, but was unable to accurately subclassify 1 patient (1/920, 0.1%) because the operative report lacked the relevant details. 251/920 (27.3%) patients had associated non-Müllerian anomalies, most frequently renal (20.9%) and skeletal (9.1%) malformations. CONCLUSIONS: The ESHRE/ESGE classification provides a generally applicable, comprehensive, and adequately specific classification of female genital tract congenital malformations. It offers an efficient basis for communication between non-experts and experts in the field and is, therefore, useful in clinical management and treatment planning.

Classification of Uterine Anomalies by 3-Dimensional Ultrasonography Using ESHRE/ESGE Criteria: Interobserver Variability.

OBJECTIVE: To evaluate the interobserver repeatability of the coronal view measurements and classification of the uterine malformations (UM) according to the ESHRE/ESGE consensus by transvaginal three-dimensional ultrasound (3D-US). METHODS: 89 transvaginal 3D-US volumes acquired during the last two years at Delta Ecografía in Madrid, Spain, were selected from our archive by convenience sampling. Two expert operators blinded from each other, performed post-hoc analysis using render mode and multiplanar-Volume Contrast Imaging (VCI) navigation. Uterine wall thickness at the fundus, indentation of the cavity and indentation of the fundus were measured, classified and sub-classified following the recommendations of the ESHRE/ESGE consensus. The reproducibility of interobserver measurements and classification was examined by calculating intraclass correlation coefficients (ICC) and their 95% confidence intervals (CI) and kappa statistic (k). RESULTS: Repeatability in the measurements: uterine wall thickness: ICC = 0.93 (95% CI, 0.90-0.96), P < 0.0001; indentation of the cavity: ICC = 0.93 (95% CI, 0.86-0.96), P < 0.0001; indentation of the fundus: ICC = 0.93 (95% CI, 0.90-0.96), P < 0.0001. Level of agreement in the classification: overall (U0, U1, U2, U3, U4, U5): k = 0.73 (95% CI, 0.61-0.84), P > 0.0001; U2 (U2a, U2b): k = 0.56 (95% CI, 0.31-0.80), P < 0.001 (0.78 observed agreement compared to 0.49 expected); U3 (U3a, U3b, U3c): k = 0.69 (95% CI, 0.16-1.00), P < 0.05 (0.85 observed agreement compared to 0.53 expected); U4 (U4a, U4b): k = 1.00 (95% CI, 1.00-1.00), P < 0.0001. CONCLUSIONS: Transvaginal 3D-US examination of the uterus allows assessment and classification of the UM by the ESHRE/ESGE criteria showing a good interobserver repeatability and reproducibility in most cases.

Uterine Malformations: An Update of Diagnosis, Management, and Outcomes.

IMPORTANCE: The prevalence of uterine malformations has been reported in up to 7% of the general population and 18% of those with recurrent pregnancy loss. The diagnosis, classification, management, and outcome of the management have been subject to debate for decades. OBJECTIVE: The aim of this article is to summarize the current knowledge regarding the genetics of müllerian anomalies, the varied classification schemes, the appropriate diagnostic modalities, the surgical methods, and the obstetric outcomes related to these surgical methods. EVIDENCE ACQUISITION: An extensive literature review using the key words uterine anomaly, classification, mullerian, agenesis, unicornuate, didelphys, bicornuate, septate, arcuate, DES, and diethyl stilbestrol was conducted using PubMed. Only English-language publications were reviewed. Relevant references within these publications were also obtained and reviewed in preparing this article. CONCLUSIONS: Current evidence favors continued use of the American Society of Reproductive Medicine classification. Three-dimensional sonography, especially when combined with saline infusion, can be very helpful in accurately classifying müllerian anomalies. RELEVANCE: Müllerian anomalies are relatively common. Accurate knowledge of the advantages and limitations of various diagnostic modalities, the limitations of the classification systems, the surgical options available where appropriate, and the obstetric outcomes after these surgeries will help in the optimal management of these patients.

IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

CDKN1C is a cyclin-dependent kinase Inhibitor and negative regulator of cellular proliferation. Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. This review summarizes the key clinical features and the molecular advances that have contributed to our understanding of this complex phenotypic spectrum.