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.

Anatomical Gynecological Anomalies in Girls Born with Anorectal Malformations: A Retrospective Cohort Study of 128 Patients.

STUDY OBJECTIVE: In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview of GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed. METHODS: A retrospective mono-center study was performed from January 2000 to December 2022. All patients assigned female at birth were eligible for inclusion. GA were classified according to ESHRE/ESGE classification. Outcomes were the number of girls with GA with subsequent screening methods, factors associated with GA, and GA requiring treatment. Uni- and multivariable logistic regression analyses were performed to identify the association between baseline characteristics and the presence of GA. RESULTS: In total, 128 girls were included, of whom 30 (24.1%) had additional GA, with vaginal anomalies being present most often (n = 17). Fifty-six patients (43.8%) underwent full screening, and this number improved over time (37.7% before 2018 vs 72.7% after 2018; P = .003). Thirteen of 30 patients (43.3%) required surgical treatment for their GA, without the occurrence of postoperative complications. CONCLUSION: Additional GA were present in almost a quarter of the girls born with an ARM, with vaginal anomalies most often identified. Despite GA being most often found in patients with cloacal malformations, these anomalies were also identified in patients with other ARM types. Surgical treatment was required in almost half of the girls with GA. Therefore, this study emphasizes the importance of screening for GA in patients with an ARM, regardless of the ARM type.

A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1.

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1-23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication. IMPACT: This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1-23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1-23.3 deletion and 12q23.1 duplication.

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.

Sexual and Reproductive Health Concerns in Adults With Cloacal Anomalies: A Qualitative Study.

STUDY OBJECTIVE: Long-term gynecologic data are lacking to inform the care of patients with cloacal malformations. We seek to examine perceived sexual and reproductive health challenges of patients born with cloacal anomalies and characterize the experiences of patients as adults. DESIGN AND SETTING: Virtual semi-structured focus groups and single-participant interviews were conducted using an online video platform. Retrospective chart review was performed to abstract available demographics and surgical history. PARTICIPANTS: Adult patients were contacted from a database of 143 patients born with cloaca who had been seen at or referred to a tertiary care pediatric colorectal center. Participants were recruited until data collection reached thematic saturation. Twenty patients aged 18-53 years participated in 5 focus groups and 3 single-participant interviews. The hospital IRB determined the research activities to be exempt from IRB review and oversight. INTERVENTIONS AND MAIN OUTCOME MEASURES: Interviews and focus groups were transcribed and analyzed using the constant comparative method to identify themes regarding sexual and reproductive health and compared with medical and surgical history abstracted from chart review. RESULTS: Participants reported many perceived barriers to intercourse and intimacy including bowel and bladder continence management. All participants reported discussion of pregnancy and fertility with healthcare providers as important. Other common themes included concerns about independence and transitioning from pediatric to adult providers. CONCLUSION: Anorectal malformations are associated with sexual and reproductive health concerns. Patients seek guidance on family building, intimacy, and transition to adult care. Future quantitative study of these topics is needed to develop best practices for counseling and clinical management of these patients. LEVEL OF EVIDENCE: Level VI. TYPE OF STUDY: Prognosis Study.

Long-term urological outcome of cloaca patients with multidisciplinary management.

PURPOSE: Urological management of Cloacal Malformation (CM) focuses on preserving renal function and continence. Study aim was to analyze urinary and intestinal outcomes in CM patients, considering the length of common channel (CC) and presence of occult spinal dysraphism (OSD). METHODS: Retrospective review of CM treated at our institution by a multidisciplinary team from 1999 to 2020. Patients with follow-up < 2.5 years were excluded. Length of CC, renal function, urinary and bowel outcomes, presence of associated anomalies (especially OSD) were evaluated. RESULTS: Twenty patients were included, median age at follow-up: 8 years (4-15). A long CC > 3 cm was described in 11 (55%). Chronic kidney disease was found in 3 patients. Urinary continence was achieved in 8/20 patients, dryness (with intermittent catheterization) in 9/20. Fecal continence was obtained in 3/20, cleanliness in 14 (under bowel regimen). OSD was present in 10 patients (higher prevalence in long-CC, 73%). Among OSD, 1 patient reached fecal continence, 7 were clean; 2 achieved urinary continence, while 6 were dry. CONCLUSIONS: Length of CC and OSD may affect urinary and fecal continence. An early counseling can improve outcome at long-term follow-up. Multidisciplinary management with patient centralization in high grade institutions is recommended to achieve better results.

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report.

 Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology of this complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosis and appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy is considered. We present a 4-day first twin child with underdeveloped ambiguous genitalia delivered via emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containing omphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary artery hypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done. Keywords: anorectal malformations; bladder exstrophy; case reports; neural tube defects; umbilicus.

Unique Evaluation and Management Considerations for Adolescents with Late Gynecologic and Colorectal Issues in the Setting of Anorectal Malformations.

STUDY OBJECTIVE: There is little guidance for managing pubertally identified Mullerian anomalies in patients with anorectal malformations (ARMs). We sought to assess these unique issues. DESIGN: Retrospective review SETTING: Single-institution study PARTICIPANTS: Natal female patients aged 10-25, with an ARM, cloaca, or exstrophy, who presented from 2009 to 2019 with a gynecologic concern were included. INTERVENTION: Data collection was performed and included the presenting problem, psychological evaluation, fertility and sexuality concerns, and management strategies for these problems. MAIN OUTCOME MEASURES: The main outcome was unique needs that had to be addressed in the young adult population and the type of colorectal and gynecological procedures needed on representation. RESULTS: Twelve patients were identified; all had gynecologic concerns. Ten had ARMs, including cloaca (n = 3) and cloacal exstrophy (n = 5). Median age at representation was 14.6 years (IQR = 12.7, 15.3). Colorectal revisions included posterior sagittal anorectoplasty (n = 1), resection of bowel attached to urogenital sinus (n = 1), and appendicostomy revision (n = 1). Gynecologic issues included dysmenorrhea (n = 8), obstructed Mullerian anomaly (n = 6), and introital stenosis (n = 5). Behavioral health concerns (n = 9) and fertility/sexuality concerns (n = 4) were identified. Median time from first visit to reconstruction was 1.5 years (IQR = 0.5, 1.5), providing multiple visits to achieve consensus among patients and providers before intervention, including vaginal or introital repair (n = 5) and hysterectomy of obstructed uterine horns (n = 3). CONCLUSIONS: Goal-directed follow-up is required before surgical management to identify psychological and reproductive issues in patients with ARMs who have gynecologic concerns. Patient input and psychologic consultation are helpful for patients requiring staged reconstruction.

Sexual and Reproductive Health Outcomes in Females With Cloacal Malformations and Other Anorectal Malformations.

STUDY OBJECTIVE: To improve our understanding of reproductive health and sexual function in women with cloacal malformations and other anorectal malformations (ARMs) METHODS: An observational cross-sectional survey was administered to individuals assigned female at birth aged 12 to 55 with ARMs and cloacal malformations cared for at our institution. Data included age of thelarche/menarche and questions on body image, gynecologic anatomy, sexual function, and pregnancy. RESULTS: Twenty-one patients responded in the ARM group and 30 in the cloacal malformation group. There were no differences in median age of thelarche/menarche in patients with ARMs (11/12.5 years) compared with patients with cloacal malformation (11/12 years). Patients with ARMs were more likely to have native vaginal tissue than those with cloacal malformations (n = 18, 82% vs n = 12, 40%; P = .03). There were no differences between groups regarding concerns about dyspareunia and functionality of their vagina (P > .05). Forty-two percent of patients with cloacal malformations and 30% of patients with ARMs reported having been sexually active. Two patients with cloacal malformations and 2 with ARMs reported having been pregnant. Patients with cloacal malformations reported a lower quality of life score (80.4) compared with those with ARMs (87.0) (difference > 4.5). CONCLUSIONS: Patients with a cloacal malformation were less likely to have native vaginal tissue and reported a lower quality of life than those with ARMs. Despite this, patients with a cloacal malformation had similar reproductive health and sexual function compared with patients with ARMs. Our results reinforce the need for comprehensive sexual and reproductive health care for all women with ARMs.

Embryology and anatomy of anorectal malformations.

The etiology of anorectal malformations (ARM) is complicated because of the spectrum of anomalies seen clinically, many of which are isolated and seemingly unique. Recent studies suggest that ARMs result from abnormal cloacal membrane (CM) development that contributes to disrupt normal local muscle and nerve development. If CM maldevelopment is severe, the rectal pouch lies above the pelvic floor, resulting in asymmetric and/or deviated musculature, so a midline incision is likely to cause trauma or be detrimental. Autonomic nerve plexuses can be associated with a fistula tract in ARMs and are also at risk for damage during surgery and contribute to genitourinary complications. Understanding the anatomy and development of the perineum is crucial for treating the broad spectrum of anomalies associated with ARMs and may assist in predicting/managing other related morbidity.

Long-term urology outcomes of anorectal malformation.

INTRODUCTION: Urological problems are a recognised feature of anorectal malformation (ARM). Previous assumptions of favourable long-term urinary outcomes are being challenged. OBJECTIVE: We hypothesised that urinary tract problems are common in ARM and frequently persist into adulthood. We retrospectively reviewed long-term renal and bladder outcomes in ARM patients. STUDY DESIGN: Patients with ARM born between 1984-2005 were identified from electronic hospital databases. Their case notes were reviewed. Renal outcomes included serum creatinine and the need for renal replacement therapy. Bladder outcomes included symptom review, bladder medication, need for intermittent catheterisation, videourodynamics and whether the patient had undergone augmentation cystoplasty. RESULT (TABLE 1): The case notes of 50 patients were reviewed. The median age at last follow up was 18 years (range 12-34 years). The level of fistula was noted to be high in 17 patients, intermediate in eight, and low in 10. Four had cloaca. Congenital urological abnormalities were present in 25 (50%). An abnormal spinal cord was present in 22 (44%) patients. VACTERL association occurred in 27 (54%). Chronic kidney disease stage II or above was found in 14 (28%) patients, of whom four required a renal transplant. Abnormal bladder outcomes were found in 39 (78%) patients. Augmentation cystoplasty with Mitrofanoff had been performed in 12. Of those who had not undergone cystoplasty, 17 had urinary symptoms, including urinary incontinence in 12. Of the 39 patients with abnormal bladder outcome, 19 (49%) did not have a spinal cord abnormality. There was no significant statistical association between level of ARM and abnormal renal outcome or presence of bladder abnormality. DISCUSSION: Adverse renal and bladder outcomes are common in our cohort of young people with ARM with a significantly higher incidence compared with current literature. We did not demonstrate an association between level of ARM or presence of spinal cord anomaly with persistent bladder problems. Congenital urological anomalies are more common in those who later have an abnormal renal outcome. Although this difference is statistically significant, one fifth of patients born with anatomically normal upper tracts develop reduced renal function, implying an important acquired component. CONCLUSION: Bladder problems and reduced renal function affect a significant proportion of young adults with ARM. Neither adverse outcome is reliably predicted from ARM level, congenital urological anomaly or spinal cord anomaly. We advise continued long-term bladder and kidney follow-up for all patients with ARM.

An Alternative Approach to Single-Stage Cloaca Repair: Image-Guided Anorectoplasty with Delayed Vaginoplasty.

BACKGROUND: Cloacal anomalies occur when a fetus's rectum, vagina, and urethra fail to separate and result in 1 common channel at birth. They are commonly managed by complex reconstruction in the first year of life. This manuscript presents an alternative approach to management in patients with absent or nondilated Mullerian structures. CASE: Image-guided, combined endoscopic and laparoscopic surgery (CELS) was used to perform an anorectal pull-through at 5 months of age on a patient with persistent cloaca and no definite vaginal or uterine structures seen on MRI and endoscopy. Urogenital reconstruction is delayed until adolescence. SUMMARY AND CONCLUSION: We hypothesize that performing a minimally invasive anorectoplasty on patients with complicated anatomy and low risk for hydrocolpos could potentially result in improved urologic function and better psychosocial outcomes. Delaying vaginoplasty will enable determination of the function of remnant Mullerian structures and allow the patient to direct the augmentation approach.

Laparoscopic management of common cloaca: Current status.

AIM: This study reviewed the literature on the laparoscopic management of cloaca. METHODS: A Medline and Embase search was performed for "laparoscopy" and "cloaca." Articles for which full-text in English was not available, duplicate articles, and review articles were excluded. Demographic characteristics, duration of follow-up, length of common channel, postoperative complications, and functional outcomes were analyzed. RESULTS: The database search retrieved 81 articles after excluding unrelated articles and identified new articles through cross-referencing 14 articles (72 patients) for this review. The rectal pouch was situated below the pubococcygeal (PC) line in three patients. In all other patients, the rectum was located above the PC line. Only the rectal component of the malformation was repaired laparoscopically in 80% (58/72). Fourteen patients underwent laparoscopic mobilization of the rectum and urogenital component. The length of the common channel was more than 3 cm in all these fourteen patients. The most common complication was rectal prolapse (n = 11). Functional evaluation by Krickenbeck scoring system was reported in 32 patients, of which 6/32 (18.75%) had fecal soiling > Grade 2. DISCUSSION: Until recently, laparoscopy for the common cloaca was almost exclusively used in patients with low urogenital sinus with high rectal pouch. Moreover, only the rectal component was repaired laparoscopically. Recently, laparoscopic rectal mobilization and urogenital separation was described for patients with common channel length ≥3 cm. It has been reported that laparoscopic vaginal mobilization is easy and more complete by this technique and may avoid vaginal replacement in most of these patients with the long common channel. However, only two studies have reported this technique, and its reproducibility and long-term results are still awaited. Another interesting observation was the increasing use of urethral length along with common channel length in determining the appropriate procedure for the patients with common cloaca. Recent studies propose that the urogenital separation technique be preferred over urogenital mobilization in patients with the short urethra. Nonetheless, we still don't have long-term comparative data to demonstrate that the functional outcomes are better with this new algorithm. We conclude that the persistent cloaca needs an individualized approach, and laparoscopy can be utilized to mobilize the high rectum and is also helpful for the urogenital separation in patients with common channel length >3 cm. However, at present, there is no conclusive evidence to support that laparoscopic repair has a better functional outcome than the open approach.

Laparoscopic Resurrection of an Old Technique: A New Approach for Total Urogenital Separation and Rectal Pull-Through in Patients with Long Common Channel Cloacal Malformation.

Background and Aims: Before the significance of urethral length was highlighted in patients with cloacal malformation, total urogenital mobilization using a posterior sagittal approach was recommended for common channel (CC) length <3 cm, those >3 cm it was followed by urogenital separation. However, many urologists are advocating that the urethral length rather than length of the CC should influence the choice of operation. It is also recommended that total urogenital mobilization should be avoided in patients with short urethral length as intraoperative decision to shift to urogenital separation will risk devascularization of the urethra, advocating total urogenital separation (TUS) from the start; the later technique was deemed difficult using open approach. We describe our experience with laparoscopic TUS and rectal pull-through in patients with cloacal malformation. Methods: Six patients were operated for a period of 3 years from December 2017 to July 2021; they underwent laparoscopic TUS and rectal pull-through. Preoperative investigations included cystoscopy, genitogram, and MRI pelvis and abdominal ultrasound. IRB approval has been obtained from research ethical committee at Cairo University. Results: Six female patients born with single perineal opening had colostomy at birth. Age during the second operation ranged from 1 to 4 years. Length of the CC ranged between 2 and 5 cm. Proximal urethral length ranged between 0.5 and 1.5 cm and vaginal depth >3 cm. Average operative time was 4.25 hours. Postoperative period was 1-5 days and uneventful. On the long-term follow-up. No patient developed urethrovaginal fistula and one patient developed vaginal stenosis. All patients had no urinary problems, dry over 4-hour interval, voiding spontaneously, and had normal kidney functions. Conclusions: Laparoscopic urogenital separation, as well as vaginal and rectal pull-through for cloacal malformation, is feasible in cloacal malformation providing anatomical repair.

Transition Care from Adolescence to Adulthood: A 10-Year Service Review of the Gynecological Implications for Young Women and Girls Born with Cloacal Anomalies.

STUDY OBJECTIVE: To establish the gynecological and reproductive outcomes for girls born with a cloacal anomaly, seen in a pediatric specialist cloaca clinic. DESIGN: Local approval was granted to conduct this review. Outcomes were retrospectively identified using healthcare records. PARTICIPANTS: Girls with known cloacal anomaly, seen in the cloaca clinic between 2009 and 2019, who had attained menarche or received gynecological input. RESULTS: Nine females met the inclusion criteria, who were 12-30 years old. The mean age of menarche was 12 years (SD = 1.29). Two developed obstructed menstruation, requiring surgical intervention. Vaginal stenosis affected all women. Three women underwent revision surgery, and 1 is awaiting surgery. None of the women have attempted a pregnancy, to our knowledge. CONCLUSION: Cloacal anomaly is a rare complex condition. Female individuals with cloacal anomaly require multidisciplinary gynecology specialist care throughout adolescence and adulthood. Provision of a dedicated gynecological service could improve the quality of life of these women.

Baseline Renal Volumes in Children Born With Cloacal Anomalies.

OBJECTIVE: To better understand why children born with cloacal anomalies are at a high risk of renal insufficiency, this study aims to determine baseline renal volume in children with cloacal anomalies compared to controls. We hypothesized children with cloacal anomalies would be born with less renal volume. METHODS: An IRB approved database of children with cloacal anomalies was reviewed. Controls were female patients with 2-vessel umbilical cord or preauricular tags who underwent screening renal ultrasound. Children were included if they had a renal ultrasound in the first 3 months of life. Cloacal exstrophy, horseshoe and cross-fused ectopic kidneys were excluded. Total and individual kidney volumes were compared between the 2 groups. RESULTS: The study cohort consisted of 109 patients, 46 (42.2%) cloaca patients and 63 (57.8%) controls. In unadjusted analyses, average total renal volume for cloaca and control patients was 22.4 cm3 vs 25.5 cm3 respectively (P = .1006), and there was no significant difference when adjusting for age (P = .3915). The estimated difference in renal unit volume between cloaca patients without solitary kidneys and controls was -1.6 cm3 (95%C.I.: -3.6, 0.4; P = .1201), and there was no significant difference when adjusting for age (P = .4725). The age-adjusted difference in renal unit volume between cloaca patients with solitary kidney and controls was 1.8 cm3 (95%CI: -1.1, 4.8; P = .2148). CONCLUSIONS: Children with cloacal anomalies have similar baseline renal volumes as children without cloacal anomalies. Therefore, the increased risk of renal insufficiency in this patient population appears to be due to renal injury postnatally.

Cloacal malformation: A rare case report and review of prenatal imagings.

RATIONALE: Cloacal malformation (CM) is a serious type of anorectal and urogenital tract malformation. However, prenatal ultrasound (US) detection of CM is challenging. In this paper, we reported a rare case of CM prenatally diagnosed by US and magnetic resonance imaging (MRI), as well as reviewed the prenatal US and MRI characteristics of CM in the literature. PATIENT CONCERNS: A 30-year-old pregnant woman complained of cystic mass in the fetal abdomen detected by prenatal US. DIAGNOSIS: Fetus CM. INTERVENTIONS: The fetus was diagnosed as fetal CM by US and MRI, then the pregnant woman received a drug-induced labor treatment. After the neonate was delivered, the measurement was performed on the weight, length, head circumference, abdomen circumference, and bilateral thigh circumference. OUTCOMES: A female dead neonate was delivered from the vagina of the gravida, showing congenital anus absence. Prenatal ultrasound demonstrated right kidney duplication, hydronephrosis, and right ureteral dilatation. Meanwhile, prenatal MRI showed a cystic cavity, double collecting systems of right kidney, right ureteral dilatation, and right rectum dilatation. In addition, general parameters are as follows: weight: 2280 g; length: 39 cm; head circumference: 26.3 cm; abdomen circumference: 31 cm; right thigh circumference: 17 cm, and left thigh circumference: 18 cm. LESSONS: US combined with MRI can not only provide reliable evidence for fetal CM in the third trimester but also offer crucial information to the pregnant women to establish clinic treatment programs as early as possible.

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.