Cloacal Dysgenesis Sequence in a Preterm Neonate.

BACKGROUND Cloaca malformations result from a disproportion of apoptosis, cell growth, and maturation. The range of cloacal malformations is extensive and diverse, with a lack of a straightforward classification system. Cloacal dysgenesis sequence (CDS), also known as urorectal septum malformation sequence, is a rare cloaca variant described as the absence of a perineal orifice. Prenatal magnetic resonance imaging and antenatal ultrasounds may reveal a cloacal malformation; however, many patients are not diagnosed with cloacal malformation until birth. CASE REPORT We present a case of a female neonate delivered by a 23-year-old G2P1T1A0L0 mother who had received comprehensive prenatal care. During pregnancy, bilateral multicystic dysplastic kidneys were identified prenatally, leading to the in utero placement of a vesicoamniotic shunt. The physical exam revealed a distended abdomen with reduced abdominal musculature and laxity, ascites, a vesicoamniotic shunt in place, absent urethra, ambiguous genitalia with no vaginal opening, no perineal opening, and clubfoot. Abdominal radiograph showed findings consistent with significant abdominal ascites. An exploratory laparotomy was performed that included diverting colostomy, mucous fistula creation, tube vaginostomy, removal of the vesicoamniotic shunt, and suprapubic tube placement. The patient recovered well from this operation with no complications. CONCLUSIONS CDS is an uncommon condition in pediatric patients, and although sonographic findings can reveal urinary tract abnormalities, prenatal imaging might not always identify CDS. Our case underscores the uniqueness of the case and the significance of early detection and immediate medical and surgical intervention.

T2-based magnetic resonance genitography in children with complex anorectal malformations: experience at a tertiary pediatric hospital in Latin America.

In children with anorectal malformations (ARMs), it is essential to have a diagnostic imaging method that helps with the evaluation of the internal anatomy. In patients with a persistent cloaca, an ARM variant, in which the measurement of the urethral channel and common channel determines surgical management, there are multiple options for imaging. Magnetic resonance imaging (MRI) is an excellent method for this purpose, from which accurate measurements of channel length can be obtained. Additionally, the use of volumetric/isotropic sequences allows multiplanar reformatting. We present our experience with pelvic MRI and intracavitary non-paramagnetic contrast (MR genitography). This method uses volumetric T2-weighted images and the instillation of saline solution as a contrast agent to distinguish the common channel, length of the urethra, anatomy of the vagina, and presence and location of the rectal fistula. We believe this technique to be particularly useful for those working in settings with limited MRI resources.

Fetal ascites in cloacal malformations-a red flag.

INTRODUCTION: Cloacal malformation is a rare anomaly that remains a diagnostic challenge prenatally, despite the current advances in ultrasonography and MRI. This condition can in some, present with isolated ascites or with other findings, such as a pelvic cyst or upper urinary tract dilatation. In a minority, the ascites may be progressive, questioning the role of antenatal intervention. METHODS: We report on ten patients that have been identified from our Cloaca database between 2010 and 2022. RESULTS: The presence of ascites was associated with extensive bowel adhesions and matting, leading to a challenging initial laparotomy and peri-operative course. CONCLUSIONS: Antenatal finding of ascites in newborns with cloacal malformations should raise a red flag. The surgeon and anaesthetist should be prepared for the operative difficulties secondary to bowel adhesions and the higher risk of haemodynamic instability at the initial surgery. An experienced team at initial laparotomy in such patients is vital. LEVEL OF EVIDENCE: II.

Correlation between Common Channel Length and Urethral Length in Cloacal Malformations.

INTRODUCTION: This research aimed to study the relationship between common channel length and urethral length in cloaca patients by different diagnostic modalities and the ability of common channel length to predict the urethral length. MATERIALS AND METHODS: The study was conducted on 30 cases of cloaca managed at Alexandria University Children Hospital and Cairo University Children Hospital from August 2018 to December 2019. Preoperative assessment included cystovaginoscopy and magnetic resonance imaging (MRI) studies with a recording of common channel length and urethral length by each modality. RESULTS: There is substantial similarity between MRI and cystoscopy in measuring common channel length; 11 patients had common channel length 1 to 3 cm by cystoscopy. It is the same number by MRI measurement. Nineteen patients had common channel length 3 to 5 cm by cystoscopy and MRI. In total, 16 had urethral length <1.5 cm by MRI, while 14 patients with urethral length <1.5 cm by cystoscopy. However, there is a moderate negative correlation by MRI between common channel length and urethral length, while by cystovaginoscope, there is no significant correlation between common channel length and urethral length. CONCLUSION: Applying MRI or cystoscopy in the preoperative assessment of cloaca cases is equivalent to measuring common channel length, not measuring urethral length. Besides that, the common channel length cannot predict the urethral length.

Cysto-Vaginoscopy of a 3D-Printed Cloaca Model: A Step toward Personalized Noninvasive Preoperative Assessment in Patients with Complex Anorectal Malformations.

INTRODUCTION: For the classification of the complexity of cloacal malformations and the decision on the operative approach, an exact anatomical assessment is mandatory. To benefit from using three-dimensional (3D)-printed models in preoperative planning and training, the practicability of these models should be guaranteed. The aim of this study was to evaluate the quality and feasibility of a real-size 3D-printed cloaca model for the purpose of cysto-vaginoscopic evaluation. MATERIALS AND METHODS: We performed a 3D reconstruction and printed a real-size, rubber-like 3D model of an infant pelvis with a cloacal malformation and asked invited pediatric surgeons and pediatric urologists to perform a cysto-vaginoscopy on the model and to complete a brief questionnaire to rate the quality and feasibility of the model and to indicate whether they would recommend the model for preoperative planning and training. RESULTS: Overall, 41 participants rated the model quality as good to very good (M = 3.28, standard deviation [SD] = 0.50, on a scale from 1 to 4). The model was rated as feasible for preoperative training (M = 4.10, SD = 0.75, on a scale from 1 to 5) and most participants (85.4%) would recommend the model for preoperative training. The cysto-vaginoscopy of the model was considered as a valid training tool for real-life cases and improved the confidence on the anatomy of a cloaca. CONCLUSION: The results of our study indicate that patient-specific 3D-printed models might be a useful tool in the preoperative evaluation of complex anorectal malformations by simulation of cysto-vaginoscopy with an excellent view on anatomical structures to assess the whole spectrum of the individual cloacal malformation. Our model might be a valuable add-on tool for specialty training in pediatric colorectal surgery.

Prenatal ultrasound findings of covered bladder exstrophy and persistent cloaca.

Unlike classic exstrophy, covered bladder exstrophy is a rare variant characterized by a cycling bladder and intact abdominal wall. We present a case of covered bladder exstrophy diagnosed prenatally and associated persistent cloaca (PC) noted only after delivery. This case report demonstrates that prenatal diagnosis of covered bladder exstrophy is possible and PC can present without any abdominal cysts, bowel, or renal findings. Covered bladder exstrophy should be considered in the differential of cystic protrusion of the bladder to the abdominal wall.

Diagnosis of Persistent Cloaca by Ultrasonography and MRI: A Case Report.

BACKGROUND Persistent cloacal malformations are rare anomalies that are anorectal malformations occurring in females. In cases of persistent cloaca, prenatal ultrasonography shows fetal ascites, cystic tumor in the abdomen, oligohydramnios, and hydronephrosis. There are various types of persistent cloaca, and symptoms vary. CASE REPORT A 38-year-old pregnant woman was referred to our hospital because of suspected fetal expansion of the intestinal tract. Prenatal ultrasonography revealed a fetal growth restriction, oligohydramnios, fetal abdominal cyst, and bilateral hydronephrosis, and persistent cloaca was suspected. Also, magnetic resonance imaging (MRI) revealed a double uterus and bilateral hydronephrosis, hydrocolpos; as such, persistent cloaca was diagnosed. Cesarean section was performed at 36 weeks+3 days gestation and delivered a female infant weighing 1957 g, with Apgar scores of 9 (1 min)/9 (5 min). CONCLUSIONS We report a case of persistent cloaca detected in the prenatal ultrasonography and MRI examination. Prenatal diagnosis is important because it can lead to a better outcome for infants with persistent cloaca. In the image inspection in persistent cloaca, there are characteristic findings such as ascites, cystic tumor in the abdomen, difficulty in visualizing the bladder, oligohydramnios, and hydronephrosis. So, if persistent cloaca is suspected, use of ultrasonography and MRI will allow its diagnosis.

Preoperative evaluation of persistent cloaca using contrast-enhanced ultrasound in an infant.

Persistent cloaca (PC) is the most intricate anorectal malformation. Contrast-enhanced ultrasound (CEUS) is safe for hepatic, renal, splenic, vascular, and intracavitary assessment in children, but it is little applied for cloacal malformation. Our results demonstrate that CEUS can not only display the uterine, vagina, bladder, urethra, rectum, and rectovaginal fistula, but also measure the length of the common channel, bladder neck to the common channel, and distal urethra to the perineum. To our knowledge this may be the first report of preoperative evaluation by CEUS in an infant with PC.

Preliminary Use of Indocyanine Green Fluorescence Angiography and Value in Predicting the Vascular Supply of Tissues Needed to Perform Cloacal, Anorectal Malformation, and Hirschsprung Reconstructions.

INTRODUCTION: Reconstructive techniques for cloaca, anorectal malformations (ARM), and Hirschsprung disease (HD) may require intestinal flaps on vascular pedicles for vaginal reconstruction and/or colonic pull-throughs. Visual assessment of tissue perfusion is typically the only modality used. We investigated the utility of intraoperative indocyanine green fluorescence angiography (ICG-FA) and hypothesized that it would be more accurate than the surgeon's eye. MATERIALS AND METHODS: Thirteen consecutive patients undergoing cloacal reconstruction (9), HD (3), and ARM repair (1) underwent ICG-FA laser SPY imaging to assess colonic, rectal, vaginal, and neovaginal tissue perfusion following intraoperative visual clinical assessment. Operative findings were correlated with healing at 6 weeks, 3 months, and 1 year postoperatively. RESULTS: ICG-FA resulted in a change in the operative plan in 4 of the 13 (31%) cases. In three cases, ICG-FA resulted in the distal bowel being transected at a level (>10 cm) higher than originally planned, and in one case the distal bowel was discarded, and the colostomy used for pull-through. CONCLUSION: ICG-FA correctly identified patients who might have developed a complication from poor tissue perfusion. Employing this technology to assess rectal or neovaginal pull-throughs in cloacal reconstructions, complex HD, and ARM cases may be a valuable technology.

Measure twice and cut once: Comparing endoscopy and 3D cloacagram for the common channel and urethral measurements in patients with cloacal malformations.

INTRODUCTION: Precise and accurate measurement of the common channel and urethra is a critical determinant prior to the repair of cloacal malformations. Endoscopy and 3D reconstruction cloacagram are two common modalities utilized to help plan the surgical approach, however the consistency between these methods is unknown. METHODS: Common channel and urethral lengths obtained by endoscopy and 3D cloacagram of cloaca patients at six pediatric colorectal centers were compared. Data are given as mean (range). RESULTS: 72 patients were included in the study. Common channel measurements determined by 3D cloacagram and endoscopy were equal in 7 cases (10%). Endoscopic measurements of the common channel were longer than 3D cloacagram in 20 (28%) cases and shorter in the remaining 44 (62%) cases. The absolute difference between measurements of the common channel was 7.2 mm (0-2.4 cm). Urethral measurements by both modalities were equal in 8 cases (12%). Endoscopic measurement of the urethra was longer than that by 3D cloacagram in 20 (31%) patients and shorter in 37 (57%) of cases. The absolute difference between measurements of the urethra was 5.1 mm (0-2.0 cm). The reconstruction (e.g. TUM or urogenital separation) that would be performed according to measurements determined by 3D cloacagram and endoscopic measurements differed in 13/62 (21%) patients with each structure identified and common channel measurements of >1 cm. CONCLUSION: Significant variation exists in the measurements of the common channel and urethra in patients with cloacal malformations as determined by endoscopy and 3D cloacagram. This variation should be considered as these measurements influence the decision to perform either a TUM or urogenital separation. Based on these findings, 3D cloacagram should be performed in all patients prior to cloaca repair to prevent mischaracterization of the malformation. LEVEL OF EVIDENCE: Level IV.

Gynecological anomalies in patients with anorectal malformations.

PURPOSE: The association of gynecological anomalies in all anorectal malformations (ARM) is firmly established. Our goal is to study this pathology in our patients to focus attention to this important issue. METHODS: Retrospective study of female patients operated for ARM and who underwent magnetic resonance imaging in our center. The type of malformation, the presence and type of vaginal, uterine, tubaric and urological anomalies were studied. RESULTS: 63 patients were included: 34.9% cloaca, 28.6% vestibular and 12.7% perineal. Half of patients had some type of müllerian anomaly; 19 vaginal, most frequent being the longitudinal vaginal septum (66.7%); 30 had uterine alterations, most frequent being the uterus didelphys (60%). Eighty percent of patients with complex ARM (cloaca, exstrophy) presented some type of gynecological malformation compared to 21.8% found in simple ARM (stenosis, perineal, vestibular) (p < 0.001). Vaginal anomalies are associated with a uterine anomaly in 100% of cases. Conversely, patients with uterine anomalies have concurrent vaginal anomaly in 63.3% of cases. CONCLUSION: Screening for gynecological anomalies is indicated in all patients with ARM. We recommend a vaginal examination in any girl with ARM during definitive repair and a subsequent MRI during follow-up. Collaboration with a gynecologist is essential.

Measuring the common canal of a persistent cloaca: can MRI replace conventional imaging?

AIM: To evaluate the role of MRI in preoperative assessments of patients with a persistent cloaca and compare magnetic resonance imaging (MRI) versus fluoroscopy contrast study in the accuracy of common canal measurement and classification prediction. MATERIALS AND METHODS: Thirty-one patients with a persistent cloaca were diagnosed and treated at Guangzhou Women and Children's Medical Center between March 2011 and December 2017. The length of the common canal was measured using MRI and fluoroscopy contrast study. Classification results based on measurements were compared with cystoscopy and intraoperative findings. The accuracy in predicting the classification by measuring the common canal length was compared. RESULT: Among 31 patients, 24 had MRI, 24 underwent fluoroscopy contrast study, and 25 underwent cystoscopy. In 20 patients, MRI-based categorisations were in accordance with cystoscopy or surgery findings, whereas in four patients there was discordance. In 17 patients, categorisations based on fluoroscopy contrast study were in accordance with cystoscopy or surgery findings, and in seven patients there was discordance; the difference was not statistically significant (p>0.05). CONCLUSION: MRI may accurately demonstrate genitourinary anomalies and the length of the common canal in patients with persistent cloaca. Categorisation based on MRI measurements of the common canal was accordant with the results from cystoscopy and findings from surgery. The use of this method may help surgeons to develop appropriate reconstruction plans before sending their patients to the operating room.

Transcending Dimensions: a Comparative Analysis of Cloaca Imaging in Advancing the Surgeon's Understanding of Complex Anatomy.

Surgeons have a steep learning capacity to understand 2-D images provided by conventional cloacagrams. Imaging advances now allow for 3-D reconstruction and 3-D models; but no evaluation of the value of these techniques exists in the literature. Therefore, we sought to determine if advances in 3-D imaging would benefit surgeons, lead to accelerated learning, and improve understanding for operative planning of a cloaca reconstruction. Questionnaires were used to assess the understanding of 2-D and 3-D images by pediatric surgical faculty and trainees. For the same case of a cloacal malformation, a 2D contrast study cloacagram, a 3D model rotatable CT scan reconstruction, a software enhanced 3D video animation (which allowed the observer to manipulate the structure in any orientation), and a printed physical 3D cloaca model that could be held in the observer's hand were employed. Logistic mixed effect models assessed whether the proportion of questions about the case that were answered correctly differed by imaging modality, and whether the proportion answered correctly differed between trainee and attending surgeons for any particular modality. Twenty-nine pediatric surgery trainees (27 pediatric general surgery and 2 pediatric urology surgery trainees) and 30 pediatric surgery and urology faculty participated. For trainees, the percentage of questions answered correctly was: 2-D 10.5%, 3-D PACS 46.7%, 3-D Enhanced 67.1%, and 3-D Printed 73.8%. For faculty, the total percentage of questions answered correctly was: 2-D 22.2%, 3-D PACS 54.8%, 3D Enhanced 66.2%, and 3-D printed 74.0%. The differences in rates of correctness across all four modalities were significant in both fellows and attendings (p < 0.001), with performance being lowest for the 2-D modality, and with increasing percentage of correct answers with each subsequent modality. The difference between trainees and attendings in correctness rate was significant only for the 2-D modality, with attendings answering correctly more often. The 2-D cloacagram, as the least complex model, was the most difficult to interpret. The more complex the modality, the more correct were the responses obtained from both groups. Trainees and attendings had similar levels of correct answers and understanding of the cloacagram for the more advanced modalities. Mental visualization skills of anatomy and complex 3-D spatial arrangements traditionally have taken years of experience to master. Now with novel surgical education resources of a 3-D cloacagram, a more quickly advancing skill is possible.

The spectrum of cloacal malformations: how to differentiate each entity prenatally with fetal MRI.

The term cloacal malformation is commonly used to describe the classic cloacal malformation where there is a single common urogenital and intestinal channel located at the expected site of the urethra. There is, however, a spectrum of cloacal abnormalities that differ from this classic type and are less well discussed in the radiologic and surgical literature. The aim of this pictorial essay is to familiarize radiologists with the anatomy, appropriate terminology and key prenatal imaging findings that differentiate the six entities that constitute the spectrum of cloacal abnormalities.

Cystourethroscopy versus contrast studies in urogenital sinus and cloacal anomalies in children.

BACKGROUND: Cloacal malformation is a spectrum of diseases affecting females, resulting in abnormal confluence of the urinary system, genital system, and/or gastrointestinal system. Proper reconstruction depends mainly on accurate preoperative illustration of the abnormal anatomy. Among the various modalities to delineate the urogenital sinus and the distances to confluence, lies the radiological contrast study, as well as the preoperative diagnostic cystourethroscopy. AIM OF THE STUDY: The aim of this study was to compare the accuracy of the contrast study and diagnostic cystourethroscopy in the demonstration of the exact changes in anatomy resulting from urogenital sinus / cloacal abnormalities. METHODS: Sixteen girls with median age 21 (11-27) months were studied. They included 4 girls with complete cloacal anomalies and 12 girls with persistent urogenital sinus secondary to congenital adrenal hyperplasia (CAH). Contrast studies and diagnostic cystourethroscopy were applied to all cases. Accuracy of both methods in delineating the abnormal anatomy was evaluated by comparison against intraoperative findings. Data are presented as median (range) or %. RESULTS: Contrast studies accurately delineated the abnormal anatomy in 12 (75%), cases with 50% and 85% accuracy in cases of cloacal anomalies and persistent urogenital sinus, respectively. Cystourethroscopy was overall accurate in 15 cases (94%), with accuracy of 75% in cloacal anomalies and 100% in persistent urogenital sinus. CONCLUSION: Although the presented series is small, it suggests that cystourethroscopy is superior to contrast studies in preoperative illustration of the abnormal anatomy in cases of cloacal malformations. These findings warrant confirmation in larger series. TYPE OF STUDY: Diagnostic study. LEVEL OF EVIDENCE: II.

Cloacal Duplication: Single-center Experience in the Management of a Rare Anomaly.

Cloacal duplication is an exceedingly rare group of anomalies with a limited number of cases reported so far. The anomaly may be confined to partial bladder duplication or it may involve complete duplication of the urogenital tract, hindgut, spine, lower limbs, and vascular structures. Every case is unique and ought to be approached individually. By means of imaging studies and endoscopy, anatomic details should be carefully defined before endorsing surgical correction. A satisfactory outcome can be achieved in the majority of cases. In this report, we describe 3 girls with cloacal duplication, and review pertinent imaging and surgical management.

Prenatal sonographic diagnosis of urorectal septum malformation sequence and chromosomal microarray analysis: A case report and review of the literature.

INTRODUCTION: Urorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features. CASE REPORT AND REVIEW: A 37-year old woman was referred at 24 weeks of gestation for fetal abdominal cyst. Detailed sonographic examination was done and revealed the vesicocolic fistula, distended colon, absence of perianal hypoechoic ring, pyelectasis, and small stomach bubble. The URSMS was suspected.Amniocentesis was done and karyotyping revealed 46,XY. Furthermore, chromosomal microarray analysis (CMA) was performed for the first time in URSMS and an alteration of 111.8Kb deletion was detected in 16p13.3 which was located inside the RBFOX1 gene. Parental studies showed that the deletion was inherited from the father who has nomal clinical phenotype.The woman elected to terminate the pregnancy at 25 weeks gestation and postmortem examination confirmed the diagnosis of partial URSMS.The published studies were reviewed and 28 cases of URSMS with conducted prenatal ultrasonography were collected in this report. The most common sonographic description, as suspicious signs of URSMS, were severe oligohydramnios or anhydramnios, urinary tract anomalies, fetal intra-abdominal cysts, and dilated bowel. Also, enterolithiasis and vesicocolic fistula were relatively infrequent but highly specific feature of URSMS. CONCLUSIONS: URSMS is difficult to be diagnosed prenatally. However, it has characteristic features that can be detected by fetal ultrasonography, and a precise prenatal sonographic examination is crucial for diagnosing URSMS. Besides, more genomic profiling studies are needed to elucidate the causality.

[Female Preterm Monozygotic Twins Discordant for Fetal Megacystis due to Cloacal Dysgenesis After Conception by Intracytoplasmatic Sperm Injection - Case Report and Review of Literature]. / Monozygote, weibliche Zwillingsfrühgeborene diskordant für das seltene, schwere Fehlbildungssyndrom einer fetalen Megazystis mit Kloakenfehlbildung nach künstlicher Befruchtung ­ Fallbericht und Literaturübersicht.

Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed. Both foetuses had normal karyotypes. After delivery at 25+3 weeks of gestation due to premature labour, the affected child was treated palliatively and died within 2 hours. In the postmortem physical examination, a cloacal dysgenesis was detected. In the male foetus, megacystis is typically caused by obstructive uropathy. In the rarely affected female foetus, it usually results from complex urogenital malformations like cloacal dysgenesis which originates from disruption during gastrulation. We identified 10 case series of mono- or dizygotic twins who were discordant either for fetal megacystis or for cloacal dysgenesis. Issues like conception, zygosity, sex, karyotype and aetiology of fetal megacystis were not reported in all cases. Discordance between monozygotic twins for structural birth defects is closely linked to the twinning process itself. Assisted reproduction is said to generate a higher rate of monozygotic twin pregnancies and to be responsible for a higher prevalence of chromosomal aberrations or congenital malformations. With regard to conception, zygosity, sex, karyotype and combination of malformations, our case is unique.