Caudal regression syndrome associated with obstructive genital tract anomaly.

Transverse vaginal septum (TVS) is a rare obstructive genital tract anomaly. It is associated with primary amenorrhoea and typically presents with cyclical abdominal pain due to obstruction of the menstrual flow. Caudal regression syndrome (CRS) is also a rare congenital anomaly that is frequently associated with anomalies of the neurological, musculoskeletal, cardiac, genitourinary and gastrointestinal systems. Obstructive genital tract anomaly in CRS is exceptionally rare. This report describes the case of a girl in early adolescence with underlying CRS who presented with severe abdominal pain associated with primary amenorrhoea. Clinical and radiological assessment revealed 'haematocolpos' manifesting as a tender 20 weeks' size abdominal mass and an absent vaginal opening. TVS was identified during examination under anaesthesia. The patient subsequently underwent a successful vaginoplasty with no recurrence of symptoms after 2 years.

The importance of the 'uterine factor' in recurrent pregnancy loss: a retrospective cohort study on women screened through 3D transvaginal ultrasound.

STUDY QUESTION: What is the prevalence of congenital and acquired anomalies of the uterus in women with recurrent pregnancy loss (RPL) of unknown etiology examined using 3D transvaginal ultrasound (US)? SUMMARY ANSWER: Depending on the adopted diagnostic criteria, the prevalence of partial septate uterus varies between 7% and 14% and a T-shaped uterus is 3% or 4%, while adenomyosis is 23%, at least one of type 0, type 1 or type 2 myoma is 4%, and at least one endometrial polyp is 4%. WHAT IS KNOWN ALREADY: ESHRE and the Royal College of Obstetricians and Gynaecologists guidelines on RPL recommend the adoption of the 3D transvaginal US to evaluate the 'uterine factor'. Nevertheless, there are no published studies reporting the prevalence of both congenital and acquired uterine anomalies as assessed by 3D transvaginal US and diagnosed according to the criteria proposed by the most authoritative panels of experts in a cohort of women with RPL. STUDY DESIGN, SIZE, DURATION: This was a retrospective cohort study including 442 women with at least two previous first-trimester spontaneous pregnancy losses (i.e. non-viable intrauterine pregnancies), who referred to the obstetrics and gynecology unit of two university hospitals between July 2020 and July 2023. PARTICIPANTS/MATERIALS, SETTING, METHODS: Records of eligible women were reviewed. Women could be included in the study if: they were between 25 and 42 years old; they had no relevant comorbidities; they were not affected by infertility, and they had never undergone ART; they and their partner tested negative to a comprehensive RPL diagnostic work-up; and they had never undergone metroplasty, myomectomy, minimally invasive treatments for uterine fibroids or adenomyomectomy. Expert sonographers independently re-analyzed the stored 2- and 3D transvaginal US images of all included patients. Congenital uterine anomalies (CUAs) were reported according to the American Society for Reproductive Medicine (ASRM) 2021, the ESHRE/European Society for Gynaecological Endoscopy (ESGE) and the Congenital Uterine Malformation by Experts (CUME) criteria. Acquired uterine anomalies were reported according to the International Federation of Gynecology and Obstetrics (FIGO) and the Morphological Uterus Sonographic Assessment (MUSA) criteria. MAIN RESULTS AND THE ROLE OF CHANCE: The partial septate uterus was diagnosed in 60 (14%; 95% CI: 11-17%), 29 (7%; 95% CI: 5-9%), and 47 (11%; 95% CI: 8-14%) subjects, according to the ESHRE/ESGE, the ASRM 2021, and the CUME criteria, respectively. The T-shaped uterus was diagnosed in 19 women (4%; 95% CI: 3-7%) according to the ESHRE/ESGE criteria and in 13 women (3%; 95% CI: 2-5%) according to the CUME criteria. The borderline T-shaped uterus (diagnosed when two out of three CUME criteria for T-shaped uterus were met) was observed in 16 women (4%; 95% CI: 2-6%). At least one of FIGO type 0, type 1, or type 2 myoma was detected in 4% of included subjects (95% CI: 3-6%). Adenomyosis was detected in 100 women (23%; 95% CI: 19-27%) and was significantly more prevalent in women with primary RPL and in those with three or more pregnancy losses. At least one endometrial polyp was detected in 4% of enrolled women (95% CI: 3-7%). LIMITATIONS, REASONS FOR CAUTION: The absence of a control group prevented us from investigating the presence of an association between both congenital and acquired uterine anomalies and RPL. Second, the presence as well as the absence of both congenital and acquired uterine anomalies detected by 3D US was not confirmed by hysteroscopy. Finally, the results of the present study inevitably suffer from the intrinsic limitations of the adopted classification systems. WIDER IMPLICATIONS OF THE FINDINGS: The prevalence of CUAs in women with RPL varies depending on the classification system used. For reasons of clarity, the US reports should always state the name of the uterine anomaly as well as the adopted classification and diagnostic criteria. Adenomyosis seems to be associated with more severe forms of RPL. The prevalence rates estimated by our study as well as the replicability of the adopted diagnostic criteria provide a basis for the design and sample size calculation of prospective studies. STUDY FUNDING/COMPETING INTEREST(S): No specific funding was used. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.

Prenatal diagnosis of ectopic kidney: Evaluation of characteristics, additional anomalies and urinary complications.

OBJECTIVE: To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period. STUDY DESIGN: Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated. RESULTS: We have detected 33 fetuses with ectopic kidneys in our cohort. The prevalence of fetal ectopic kidney was 0.22 %, with a median (min.-max.) diagnosis time of 21.3 (17.6-34) weeks. In the group in whom indicated USG was performed, the time of diagnosis was later compared to routine detailed USG (p = 0.04) group. There was no difference in terms of gender [male, (n = 14), female (n = 19), p = 0.38] and the sidedness of the ectopic kidneys (p = 0.38). The location of ectopic kidneys was most frequent in the iliac fossa (n = 20, 60.6 %) and in the lateral pelvic areas (n = 13, 39.3 %). The blood supply origin of ectopic kidneys was the common iliac artery in 22 (66.6 %), whereas the aorta in 11 cases (33.3 %). There was an additional urinary anomaly in 8 cases (24 %), an extraurinary structural anomaly, most commonly cardiac, and/or a soft marker for aneuploidy were presented in 16 cases (48 %). The most common urinary complication in the postpartum period was vesicoureteral reflux (n = 5). CONCLUSION: Ectopic kidney in the prenatal period is a rare structural anomaly that can equally affect both genders and both kidneys. Prenatal diagnosis is important for the diagnosis of additional anomalies and follow-up of postnatal complications.

Understanding the novel MCM8 gene mutation: primary ovarian insufficiency and uterine hypoplasia in siblings.

This case report elucidates a scenario involving two sibling sisters born out of consanguineous marriage-one initially presenting with lower respiratory infection, concurrently exhibiting short stature and primary amenorrhoea. Investigation into the primary amenorrhoea unveiled hypergonadotropic hypogonadism, confirmed by the absence of ovaries and a hypoplastic uterus on pelvic MRI. Genetic analysis via whole exome sequencing identified a homozygous variant NM_001282717.2: c.808C>T in the MCM8 gene, located on exon 8 of chromosome 20, inherited in an autosomal recessive manner. The scarcity of primary ovarian insufficiency cases linked to MCM8 highlights the necessity of thoroughly investigating the genetic and clinical consequences of such variants.

MR Imaging of the Fetal Genitourinary Tract.

Fetal MR imaging overcomes many of the technical barriers of ultrasound and is an important diagnostic tool for fetal genitourinary (GU) anomalies. It is suited for evaluation of GU anomalies because of the fluid-sensitive sequences and superior soft tissue contrast. Often GU malformations are part of a multisystem genetic or congenital condition, and imaging the entire fetus with MR adds additional clarity about the extent of disease. It adds confidence to diagnoses of renal agenesis, urinary tract dilation, cystic disease, and tumors. It is particularly useful to delineate anatomy in complex GU malformations. This additional information guides counseling.

Natural conception and term pregnancy after hysteroscopic incision of complete septate uterus with septate cervix: A case report and literature review.

OBJECTIVE: To discuss several techniques of hysteroscopic surgery for complete septate uterus. CASE REPORT: A 40-year-old female with unexplained primary infertility was diagnosed with complete septate uterus with septate cervix. Hysteroscopic incision of complete septate uterus was performed by using ballooning technique. The patient conceived naturally shortly after the operation and delivered a healthy, term infant. CONCLUSION: Hysteroscopic incision of complete septate uterus is a safe and prompt way of metroplasty. With the knowledge obtained from a pre-operative MRI, it can be completed without laparoscopy and the need for hospitalization.

Discrepancies Between Imaging Reports and Operative Findings in Patients With Cloaca: A Call for Expansion of the Mullerian Anomalies Classification.

BACKGROUND: There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca. METHODS: A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings. RESULTS: 36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures. CONCLUSION: Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options. STUDY TYPE: Retrospective. LEVEL OF EVIDENCE: IV.

[(Uro)genital developmental disorders]. / (Uro)genitale Entwicklungsstörungen.

CLINICAL ISSUE: Congenital anomalies of the urogenital tract are common, whereas isolated developmental disorders of the genital organs are rare and varied. The type and timing of imaging to characterize these developmental disorders and the planning of any treatment are the subject of discussion. The aim of this article is to provide a brief overview of embryology, diagnostic procedures, and examples of findings. STANDARD RADIOLOGICAL METHODS: The primary procedure for imaging the genitals is sonography, which must be performed with appropriate empathy. In addition to the genitals, the general situation of the kidneys and urinary tract should be examined, as urogenital malformations are often combined. Dedicated magnetic resonance imaging (MRI) is indicated as advanced imaging in interdisciplinary consultations. Invasive procedures, such as genitography combined with micturition cystourethrography (MCU) using X­rays or contrast-enhanced sonography, are rarely required. Computed tomography (CT) or excretory urography play no role. CONCLUSION: Imaging plays an important role in the assessment of genital anomalies. Knowledge of embryology facilitates anatomical understanding and the assessment of pathologies.

Ultrasound and magnetic resonance imaging features of fetal urogenital anomalies: A pictorial essay.

This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal urogenital anomalies. Fetal urogenital malformations account for 30%-50% of all anomalies discovered during pregnancy or at birth. They are usually detected by fetal ultrasound exams. However, when ultrasound data on their characteristics is insufficient, MRI is the best option for detecting other associated anomalies. The prognosis highly depends on their type and whether they are associated with other fetal abnormalities.

Challenges in the diagnosis and management of Robert's uterus: Systematic review and case presentation.

Robert's uterus is a rare Müllerian duct anomaly (MDA) characterized by complete asymmetric septum dividing uterine cavity into two non-communicating parts. This study offers insights into diagnosing and management of this condition in a young patient, and a systematic literature review. The review included 19 studies from 2013 to 2023. 11.4% of women reported a history of miscarriage and 5.7% primary infertility. Dysmenorrhea was the most frequent symptom (54.3%), and 14.3% of patients had a coexisting endometriosis. The surgical interventions most commonly combine laparoscopic and hysteroscopic techniques. Robert's uterus requires heightened clinical awareness for early diagnosis, particularly in young women.

Proposal for Diagnostic Criteria of Y-Shaped Dysmorphic Uterus Based on 3-Dimensional Transvaginal Ultrasound Measurements.

STUDY OBJECTIVE: To define objective and readily applied diagnostic criteria for Y-shaped uteri using 3-dimensional transvaginal ultrasound (3D-TVUS) volume recordings. DESIGN: A retrospective case-control diagnostic measurements study. SETTING: A tertiary university hospital's reproductive health and research center. PATIENTS: Two hundred thirteen patients who presented with infertility between January 2020 and December 2022. INTERVENTIONS: Two blinded physicians re-evaluated the 3D-TVUS images of all patients for the presence of a uterine abnormality. The images of patients with a Y-shaped uterus were re-evaluated, and descriptive measurements were done. MEASUREMENTS AND MAIN RESULTS: The most common uterine abnormality in this cohort was the Y-shaped uterus with a prevalence of 12.2%, followed by the arcuate, T-shaped, and septate uteri, respectively. Reviewers identified 26 and 28 Y-shaped uteri, respectively, and came to a consensus on 25 images. Diagnostic criteria for the Y-shaped uterus based on 3D-TVUS findings have been specified as: lateral indentation depths between 4 and 7 mm, fundal indentation depth between 5 and 9 mm, lateral indentation angles between 121° and 149°, fundal indentation angle between 121° and 145°, and Y-angles 25° to 46°. CONCLUSION: Some subtypes of dysmorphic uteri, such as the Y-shaped uterus, whose clinical significance is unknown and may be variants of the normal, may actually be more common than thought. Determining objective diagnostic criteria with 3D-TVUS will allow standard research on these anomalies and their clinical significance.

Accessory cavitated uterine malformation (ACUM): A scoping review.

INTRODUCTION: Accessory cavitated uterine malformation (ACUM) is a relatively recent term used to describe a noncommunicating, accessory uterine cavity. ACUM have been published under different terms ranging from juvenile cystic adenomyosis to "uterus-like mass". The objective of this study was to systematically identify all cases of ACUM and definitions described in the literature, regardless of label, and identify morphological, epidemiological, and clinical characteristics as well as management, while also highlighting knowledge gaps. MATERIAL AND METHODS: A systematic literature search of three databases was performed, reviewing all records of cystic myometrial lesions. Cases that fitted common definitions for ACUM were included and clinical and imaging characteristics were documented in detail. This work was registered to PROSPERO and reporting followed PRISMA guidelines for scoping reviews. RESULTS: A total of 53 articles were included, comprising 115 cases that met the minimal criteria for ACUM. The median age at onset of symptoms was 17 years, presenting with dysmenorrhea soon after menarche. A total of 19 women were parous. On ultrasound, ACUM appears as unilocular myometrial cysts, usually with ground-glass content. Hemorrhagic content is also observed on magnetic resonance imaging (MRI), with high signal intensity on both T2 and T1-weighted images. Ninety-five (83%) cases were managed surgically, with a trend towards primary nonsurgical options. Although no adverse outcomes were reported, long-term follow-up on subsequent fertility and pregnancy was rare. CONCLUSIONS: Despite its increasing recognition as a clinical entity, ACUM often remains underdiagnosed as it shares similarities with other myometrial masses. We propose a unified terminology and definition for ACUM based on the data in this review. ACUM presents as a cavitated lesion, surrounded by a myometrial mantle, in continuity with the anterolateral uterine wall and located beneath the insertion of the round ligament and the interstitial portion of the fallopian tube. In contrast to other uterine abnormalities, a normal uterine cavity is visualized. Future studies are needed, using a clear definition for ACUM, and prospectively investigating management strategies, including long-term follow-up of patient-reported symptoms, fertility, and pregnancy outcomes.

Robotic-assisted single-site abdominal cerclage in the bicornuate uterus patient with cervical insufficiency.

OBJECTIVE: To demonstrate the surgical techniques for improving safety in robotic-assisted abdominal cerclage in patients with bicornuate uteri complicated by recurrent pregnancy loss and cervical insufficiency. DESIGN: Stepwise demonstration with narrated video footage. SETTING: An academic tertiary care hospital. PATIENTS: Our patient is a 22-year-old G2P0020 with a history of recurrent pregnancy loss. During her first pregnancy, she was asymptomatic until 19 weeks and delivered because of a preterm premature rupture of membranes. A transvaginal cerclage was performed for her second pregnancy at 14 weeks, which ended at 16 weeks because of preterm premature rupture of membranes. The final magnetic resonance imaging report noted a "bicorporeal uterus with duplication of the uterine body, resulting in two markedly divergent uterine horns that are fused at the isthmus... unlike a typical didelphic uterus, a single, non septated cervix is noted, which shows normal appearances, measuring 3.8 cm in length." Given her history of a uterine anomaly and recurrent pregnancy loss in the absence of other biochemical factors, her maternal-fetal medicine specialist referred her to us as the patient strongly desired future viable pregnancies. The patient was counseled on multiple alternatives, including different methods of performing the cerclage, and ultimately decided on the robotic-assisted (Da Vinci Xi) prophylactic abdominal cerclage. INTERVENTIONS: The bicornuate uterus is a rare class IV mullerian duct anomaly caused by the impaired fusion of the mullerian ducts in the uterus, classically appearing in imaging studies as a heart-shaped uterus. This patient demographic reports a high incidence of obstetric complications. Pregnancy in such a uterus causes complications like first- and second-trimester pregnancy loss, preterm labor, low-birthweight infants, and malpresentation at delivery.1 Researchers have postulated that there is an abnormal ratio of muscle fibers to connective tissue in a congenitally abnormal cervix. During pregnancy, an inadequate uterine volume may lead to increased intrauterine pressure and stress on the lower uterine segment, which can lead to cervical incompetence.2 To address cervical incompetence, cervical cerclages are a commonly utilized procedure, as recent studies demonstrate that the incidence of term pregnancies in the group with documented cervical incompetence treated with cerclage placement increased from 26% to 63%.3 One observational study noted improved obstetrical outcomes occurred with interval placement, a cerclage placed in between pregnancies in the nongravid uterus, compared with cerclage placement between 9 and 10 weeks gestation, with the mean gestational age for delivery at 32.9 weeks and 34.5 weeks when a cerclage was placed in gravid and nongravid women, respectively.4 In addition, another retrospective study was done, which demonstrated a lower incidence of neonatal death with prophylactic cerclages.5 Operating on a nonpregnant uterus offers several benefits, including its reduced size, fewer and smaller blood vessels, and simplified handling. Moreover, there are clearly no concerns regarding the fetus. In the decision to use a robotic-assisted platform vs. laparoscopic, a systematic review showed the rates of third-trimester delivery and live birth (LB) using laparoscopy during pregnancy were found to be 70% and 70%-100%, respectively. The same review demonstrated slightly improved outcomes via the robotic route regarding gestational age at delivery (median, 37 weeks), rates of LB (90%), and third-trimester delivery (90%).6 Additional factors contributing to the preference for robotics in surgical procedures include incorporating advanced tools, which can enhance the robotic system's advantages compared with traditional laparoscopy. An invaluable tool in this context is the simultaneous utilization of Firefly mode, which employs a near-infrared camera system, achieved through injecting indocyanine green dye or integrating other light sources concurrently. The intravenous administration of indocyanine green is acknowledged widely for its safety and efficacy as a contrast agent in the evaluation of microvascular circulation and organ vascularization. This property equips surgeons with heightened precision when guiding the needle, proving especially advantageous when faced with challenges in visualizing vascular anatomy. In our specific case, we harnessed the capabilities of Firefly mode in conjunction with hysteroscopic light, enabling us to vividly illustrate the contours of a bicornuate uterus from both external and internal perspectives. We demonstrate a simplified technique of the abdominal cerclage, one cerclage around the internal cervical os of the uterus, using a robotic-assisted platform in a nongravid patient. The surgery began with the eversion of the umbilicus, and a 15-mm skin incision was made in the umbilicus. A Gelpoint mini advanced access site laparoscopy device was inserted into the incision, and CO2 was allowed to insufflate the abdominal cavity with careful attention given to intraabdominal pressure. Once the DaVinci was docked, the surgeon began the creation of a bladder flap. The bladder was carefully dissected from the lower uterine segment and both uteri using monopolar scissors. The anatomical differences of a bicornuate uterus prompted the surgeon to dissect a wider circumference for safety reasons, where a wider dissection offers a better view of the uterine vessels and ease of introducing the Mersilene tape later on. Bilateral uterine vessels were further skeletonized and exposed anteriorly using blunt dissection and monopolar scissors. After further dissection and lateralization, the final result creates a landmark medial to the right uterine vessels at the level of the internal cervical os with which the needle of the Mersilene tape will be able to pass through. The Mersilene tape was guided from anterior to posterior via a previously straightened needle. Similarly, a landmark was created on the left, and the Mersilene tape was directed from anterior to posterior. The Mersilene tape was placed circumferentially around the internal cervical os of the bicornuate uterus, medial to the uterine vessels. Both ends of the Mersilene tape were then gently pulled, ensuring that the tape was lying flat on the anterior of the internal cervical os with no bowels or uterine vessels within it. The tape was then tied posteriorly at the 6 o'clock position with appropriate tension. A 2-0 silk was then sutured to the tails of the tape using the purse-string technique to ensure that it would remain securely tied and in the correct position. Hemostasis was assured. Both a hysteroscopy and a cystoscopy were done after the completion of the cerclage to ensure that no tape or sutures were seen within the cervical canal or the uterine cavity. None were observed. MAIN OUTCOMES MEASURES: The success criteria for the surgery were identified as the patient's ability to attain a viable pregnancy after the cerclage placement, along with achieving LB. RESULTS: Subsequently, a spontaneous pregnancy was achieved. An infant weighing 3 pounds and 16 ounces was delivered by cesarean section at 36 weeks because of an oligohydramnios. The infant is currently healthy at 13 pounds. CONCLUSION: Robotic-assisted abdominal cerclage around the internal cervical os in a bicornuate uterus offers a possibly feasible and straightforward technique for surgeons seeking to reduce risks, although further research is needed.

Unification and orificing of two functional noncommunicating uterine horns through the created neovagina using peritoneum.

OBJECTIVE: To demonstrate the surgical approach for Müllerian agenesis with bilateral uterine remnants containing functional endometrium. DESIGN: Stepwise demonstration of the technique with narrated video footage. SETTING: Reproductive surgery unit of a tertiary university hospital. PATIENT: An 18-year-old adolescent was admitted to a tertiary university hospital with complaints of primary amenorrhea and cyclic pelvic pain. Physical examination and magnetic resonance imaging scans suggested a complex Müllerian abnormality. The patient had uterine remnants with bilateral functional endometrium and cervicovaginal agenesis. INTERVENTION: An operation was planned to reconstruct her anatomy by providing a neovagina and anastomosing the uterine remnants. Gonadotropin-releasing hormone analogs were prescribed to suppress her menstruation until the procedure. The operation was performed in the third month after the initial diagnosis. A laparoscopy was conducted, revealing approximately 5 × 6-cm bilateral uterine horns with healthy adnexa. As the first step, a neovagina was created using a modified peritoneal pull-down technique, a standard approach in our clinic. A vaginal incision was made, and a blind vaginal dissection was performed to reach the peritoneum vaginally. Subsequently, an acrylic vaginal mold was inserted. The vaginal orifice was laparoscopically incised using ultrasonic energy with guidance from the inserted vaginal acrylic mold. The orifice was gradually dilated with larger molds. The entire pelvic peritoneum was dissected circularly, and the distal part of the dissected peritoneum was pulled down using four 2.0 Vicryl sutures at 0°, 90°, 180°, and 270° from the opened vaginal orifice. The uterine cavities of both remnants were incised, and two separate Foley catheters were placed in both cavities. A mold with a hole was used to insert the catheters through the vagina. Both catheters were secured in the cavities with Prolene sutures pulled up from the anterior abdominal wall. The next step involved uterine anastomosis. The uterine remnants were unified through continuous suturing, resulting in the formation of a normally shaped uterus. In the final step, the created uterus and neovagina were anastomosed. The patient received instructions on how to perform mold exercises and follow-up care. MAIN OUTCOME MEASURE: Description of laparoscopic management of a rare Müllerian abnormality. RESULTS: The postoperative magnetic resonance imaging scan at 1 month revealed healed unified uterine cavities and vagina. The patient experienced spontaneous menstruation in the second month after surgery and now maintains regular menses with an approximately 9-10 cm functional vagina. Within 3 months after surgery, the visual analogue scale scores for chronic pelvic pain and dysmenorrhea decreased from 9 to 2-3. CONCLUSIONS: Müllerian abnormalities are exceptionally rare, and their spectrum is broad, making it challenging to identify an exact surgical method to restore functional anatomy. Therefore, a customized surgical approach should be designed for each patient on the basis of their unique condition.

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

OBJECTIVE: Duplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses. METHODS: This retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023. We reviewed the clinical characteristics, genetic test results, and pregnancy outcomes of the patients. RESULTS: Among the 63 cases based on the inclusion criteria, the CMA detected seven (11.1%) clinically significant variants and nine variants of uncertain significance (VUS), and the pathogenic/likely pathogenic (P/LP) copy number variations (CNVs) in the recurrent region that were associated with prenatal duplex kidney included 17q12, 17p13.3, and 22q11.2. No significant disparity was observed in the CMA detection rate between the unilateral and bilateral groups, or between the isolated and non-isolated groups. WES identified three (50%) P/LP single-gene variants in six fetuses with duplex kidney. We detected the following pathogenic genes in the duplex kidney fetuses: KMT2D, SMPD4, and FANCI. Pregnancy termination in cases where clinically significant variants were detected by genetic testing was different in statistical significance from that in cases with negative results (9/10, 90.0% vs 8/48, 16.7%, P < 0.001). CONCLUSION: This study elucidated the value of CMA and WES for fetal duplex kidney, proving that CMA and WES may be useful tools in prenatal diagnosis and genetic counseling.

Three-dimensional transvaginal ultrasound diagnosis of interstitial ectopic pregnancy in a unicornuate uterus: A case report.

A rare case of unicornuate uterus with interstitial ectopic pregnancy was diagnosed using three-dimensional transvaginal ultrasound (3D-TVUS). The ultrasound revealed a "lancet-shaped" endometrial corona, a gestational sac near the uterus base extending toward the uterine serosa, and visible interstitial lines. The patient underwent laparoscopic surgery for a lesion in the right fallopian tube. 3D-TVUS was crucial in precisely locating the gestational sac, aiding in effective treatment. Interstitial ectopic pregnancies risk severe hemorrhaging upon rupture. Rapid, accurate diagnosis is vital for lifesaving treatment and preventing critical complications.

Giant Colpolithiasis in Urogenital Sinus Anomaly with Urethral Duplication: A Case Report and Review of Literature.

ABSTRACT: Primary vaginal calculi are uncommon in children. Urethral duplication in females is seen to occur in association with complex congenital malformations. We report the case of perianal persistent urogenital sinus with a hypertrophied clitoris with phallic urethra, scrotum-like pouch, uterus didelphys with obstructed hemivagina, and giant colpolithiasis in 46XX female. A 16-year-old presented with pain abdomen and cyclic passage of blood clots per rectum. She had a tender lump in left iliac region, a phallus like protrusion and a ruggous sac below it. Vaginal opening was absent. Computed tomography showed two uterine horns with a separate cervix and distended non-communicating hemivaginas with a large calcified oval mass in the left hemivagina. On exploration, calculus was extracted from the left hemivagina. The large calculus found in the left hemivagina appears to be the cause of all presenting symptoms. It obstructed the left hemivagina, filling the left uterine horn with menstrual blood causing its gradual enlargement and secondary infection. The early diagnosis and prompt referral of such an anomaly can only be ensured in institutional deliveries. For a significant proportion of newborns in the developing world, the ability to afford or even be referred to institutes which deal with such cases is a luxurious affair. We hope to bridge bridging the knowledge, attitude and practice gap that exists in our health-care system with this report.

Congenital anomalies of the kidney and urinary tract: antenatal diagnosis, management and counselling of families.

Congenital anomalies of the kidney and urinary tract are collectively one of the most commonly diagnosed antenatal conditions. Clinicians have several tools available to diagnose anomalies, including imaging, biomarkers, family history and genetic studies. In certain cases, antenatal interventions such as vesico-amniotic shunting may be considered to improve postnatal outcomes.Congenital kidney anomalies detected antenatally can vary in clinical significance from almost no impact postnatally to significant morbidity and perinatal mortality. Prognosis broadly depends on kidney size, structure and amount of amniotic fluid, alongside genetics and family history, and progression on subsequent scans. It is important to counsel parents appropriately using a parent-focused and personalised approach. The use of a multidisciplinary team should always be considered.