Congenital lung malformations: a nationwide survey on management aspects by the Italian Society of Pediatric Surgery.

INTRODUCTION: Over the years, congenital lung malformations (CLM) management remains a controversial topic in pediatric thoracic surgery. The Italian Society of Pediatric Surgery performed a national survey to study the current management variability among centers, trying to define national guidelines and a standardized approach of children with congenital lung malformations. METHODS: Following a National Society approval, an electronic survey including 35 items on post-natal management was designed, focusing on surgical, anesthesiology, radiology and pneumology aspects. The survey was conducted contacting all pediatric surgical units performing thoracic surgery. RESULTS: 39 pediatric surgery units (97.5%) participated in the study. 13 centers (33.3%) were classified as high-volume (Group A), while 26 centers (66.7%) were low volume (Group B). Variances in diagnostic imaging protocols were observed, with Group A performing fewer CT scans compared to Group B (p = 0.012). Surgical indications favored operative approaches for asymptomatic CLM and pulmonary sequestrations in both groups, while a wait-and-see approach was common for congenital lobar emphysema. Surgical timing for asymptomatic CLM differed significantly, with most high-volume centers operating on patients younger than 12 months (p = 0.02). Thoracoscopy was the preferred approach for asymptomatic CLM in most of centers, while postoperative long-term follow-up was not performed in most of the centers. CONCLUSION: Thoracoscopic approach seems uniform in asymptomatic CLM patients and variable in symptomatic children. Lack of uniformity in surgical timing and preoperative imaging assessment has been identified as key areas to establish a common national pattern of care for CLM.

Gut microbiota and pediatric patients with spina bifida and neurogenic bowel dysfunction.

PURPOSE: Gut microbiota has recently been recognized to be influenced by a broad range of pathologies. Alterations of gut microbiota are known as dysbiosis and have found to be related to chronic constipation, a condition which affects also pediatric patients with spina bifida (SB). METHODS: In this study, gut microbiota richness and composition were investigated by 16S rRNA sequencing and bioinformatic analysis in 48 SB patients (mean age, 11.9 ± 4.8 years) with secondary neurogenic constipation and 32 healthy controls (mean age, 18.0 ± 9.6 years). The study also aimed at exploring eventual effects of laxatives and transanal irrigation (TAI) adopted by SB subjects to get relief from the symptoms of neurogenic constipation. RESULTS: Collected data demonstrated that the microbiota richness of SB patients was significantly increased compared to healthy controls, with a higher number of dominant bacteria rather than rare species. The absence of SB condition was associated with taxa Coprococcus 2, with the species C. eutactus and Roseburia, Dialister, and the [Eubacterium] coprostanoligenes group. On the other hand, the SB patients displayed a different group of positively associated taxa, namely, Blautia, Collinsella, Intestinibacter, and Romboutsia genera, the [Clostridium] innocuum group, and Clostridium sensu stricto 1. Bifidobacterium and the [Eubacterium] hallii group were also found to be positively associated with SB gut microbiome. CONCLUSIONS: Among SB patients, the administration of laxatives and TAI did not negatively affect gut microbiota diversity and composition, even considering long-term use (up to 5 years) of TAI device.

Ovarian torsion in the pediatric population: predictive factors for ovarian-sparing surgery-an international retrospective multicenter study and a systematic review.

STUDY OBJECTIVE: Ovarian torsion (OT) in pediatric age is a challenging condition to diagnose and treat. To date, there is still no clear consensus about its management. Our aim was to assess some possible associated factors that can help surgeons in decision-making. DESIGN: We conducted a retrospective multicentric study of pediatric OT surgically treated between 2010 and 2020 in six Italian and German institutions, comparing our findings with a literature review of the last 10 years (2010-2020). PARTICIPANTS: Patients aged 0-18 years with a diagnosis of OT intraoperatively confirmed and surgically treated at the involved institutions. RESULTS: Ninety-seven patients with a mean age at diagnosis of 8.37 years were enrolled in the study. Severe abdominal pain was present in 82 patients (84.5%). Eighty children (82.5%) presented an enlarged ovary with an US diameter > 5 cm and only 32 (40%) of them underwent conservative surgery. A laparoscopic approach was performed in 60 cases (61.9%) although in 15 (15.5%) conversion to open surgery was deemed necessary. A functional cyst was present in 49 patients (50.5%) while 11 children (11.3%) suffered from OT on a normal ovary. CONCLUSIONS: Our results showed that a post-menarchal age (p = .001), a pre-operative US ovarian size < 5 cm, (p = .001), the presence of severe abdominal pain (p = .002), a laparoscopic approach (p < .001), and the presence of a functional cyst (p = .002) were significantly associated with conservative surgery.

Management and outcomes of acute appendicitis in children during the COVID-19 pandemic: a systematic review and meta-analysis.

The COVID-19 pandemic has changed the way to manage the emergencies, as people faced fear of the hospitals, with possible delay in the diagnosis. Moreover, clinicians had to rearrange protocols for diagnosis and treatment. We aimed to assess whether COVID-19 pandemic influenced severity of inflammation, management, and outcomes of acute appendicitis (AA), when compared to the pre-COVID era. Using defined search strategy, two independent investigators identified those studies comparing pediatric AA during COVID-19 pandemic versus the pre-COVID-19 period. Meta-analysis was performed using RevMan 5.3. Data are mean ± SD. Of 528 abstracts, 36 comparative studies were included (32,704pts). Time from symptoms onset to surgery was longer during the pandemics compared to the pre-COVID-19 (1.6 ± 0.9 versus 1.4 ± 0.9 days; p < 0.00001). Minimally Invasive Surgery was similar during COVID-19 (70.4 ± 30.2%) versus control period (69.6 ± 25.3%; p = ns). Complicated appendicitis was increased during the pandemics (35.9 ± 14.8%) compared to control period (33.4 ± 17.2%; p < 0.0001). Post-operative complications were comparable between these two groups (7.7 ± 6.5% versus 9.1 ± 5.3%; p = ns). It seems that the COVID-19 pandemic influenced the time of diagnosis, severity of inflammation, and type of surgery. However, the number of post-operative complications was not different between the two groups, leading to the conclusion that the patients were correctly managed. LEVEL OF EVIDENCE: Level 3 Meta-analysis on Level 3 studies.

Rectal atresia and rectal stenosis: the ARM-Net Consortium experience.

PURPOSE: To assess the number, characteristics, and functional short-, and midterm outcomes of patients with rectal atresia (RA) and stenosis (RS) in the ARM-Net registry. METHODS: Patients with RA/RS were retrieved from the ARM-Net registry. Patient characteristics, associated anomalies, surgical approach, and functional bowel outcomes at 1 and 5-year follow-up were assessed. RESULTS: The ARM-Net registry included 2619 patients, of whom 36 (1.3%) had RA/RS. Median age at follow-up was 7.0 years (IQR 2.3-9.0). Twenty-three patients (63.9%, RA n = 13, RS n = 10) had additional anomalies. PSARP was the most performed reconstructive surgery for both RA (n = 9) and RS (n = 6) patients. At 1-year follow-up, 11/24 patients with known data (45.8%, RA n = 5, RS n = 6) were constipated, of whom 9 required stool softeners and/or laxatives. At 5-year follow-up, 8/9 patients with known data (88.9%, RA n = 4, RS n = 4) were constipated, all requiring laxatives and/or enema. CONCLUSION: RA and RS are rare types of ARM, representing 1.3% of patients in the ARM-Net registry. Additional anomalies were present in majority of patients. Different surgical approaches were performed as reconstructive treatment, with constipation occurring in 46% and 89% of the patients at 1 and 5-year follow-up. However, accurate evaluation of long-term functional outcomes remains challenging.

Surgical management of ovarian teratomas in childhood: a multicentric study on 110 cases and a literature review.

AIM OF THE STUDY: To compare a multicentric surgical experience on ovarian teratomas in childhood with the current management trends. DESIGN: A retrospective multicentric pediatric ovarian teratomas surgically treated between January 2000 and August 2020 at four Italian institutions. PubMed database was used to search for Reviews and Systematic Reviews published between January 2010 and August 2020: 15 manuscripts reported 3633 ovarian neoplasms in pediatric age, 1219 (33,5%) of which were ovarian teratomas. RESULTS: A hundred-ten patients with a mean age at diagnosis of 11.8 years were enrolled. Mature cystic teratomas accounted for the 90% of the masses. At surgery, 78 were oophorectomies and 32 were ovary sparing surgeries. Laparoscopy occurred in 16.3% of the surgeries.As regarding the current management trends, the mean age at diagnosis was 11.9 years and 80.5% of the cases were represented by mature teratomas. Of 430 procedures, 331 were oophorectomies while 99 were ovary sparing surgeries and laparoscopy was performed in 23.8% of cases. CONCLUSIONS: Ovary-sparing surgery with laparoscopic approach is increasingly offered as standard treatment for benign masses that fit the criteria for mature teratomas, in the attempt to achieve the best compromise between the preservation of fertility and the prevention of recurrences. Awareness should be raised among pediatric surgeons to reduce unnecessary radical surgery.

Esophageal Retained Lithium Battery in Children Younger than 6 Years: A Prompt Structured Multidisciplinary Approach Is Essential to Reduce Long-Term Consequences.

OBJECTIVES: Disk battery esophageal retention in children younger than 6 years represents an increasing endoscopic emergency, followed by a relevant risk of life-threatening late complications. Surgical removal after a failed endoscopic approach is rarely reported in the literature. We describe our experience in this scenario. METHODS: Two female asymptomatic patients aged 26 and 29 months presented within 4 hours after a witnessed ingestion of a 2-cm, 3-V lithium battery (CR2032) retained in the cervical esophagus. Both patients underwent a prolonged unsuccessful emergent endoscopic removal with a flexible instrument performed by an adult gastroenterologist. Both batteries fused with the esophageal wall were extracted through a longitudinal left cervical esophagotomy combined with minimal resection of necrotic tissues and repaired over a 12F feeding tube. RESULTS: Patients were extubated after 12 and 72 hours, respectively. Contrast study was performed after 20 and 13 days, respectively, before resuming oral feeding. At endoscopy, the first patient developed a 3-cm-long severe esophageal stenosis (35th day), followed by an asymptomatic tracheoesophageal fistula (60th day), which was conservatively treated. After spontaneous resolution of the tracheoesophageal fistula, esophageal stenosis progressed, partially responsive to esophageal stenting. Short esophagectomy is under evaluation. The second patient developed an asymptomatic limited stenosis, not requiring dilatation. CONCLUSIONS: The emergent management of lithium battery ingestion needs a structured timely multidisciplinary approach in the emergency department, an experienced pediatric endoscopist, and a simultaneous engagement of pediatric surgical expertise, even in patients who do not show bleeding, to reduce esophageal exposure time to high-voltage current released by batteries, which represents the main factor conditioning tissue damage and prognosis.

Perineal Groove: An Anorectal Malformation Network, Consortium Study.

OBJECTIVE: To review the Anorectal Malformation Network experience with perineal groove (PG) focusing on its clinical characteristics and management. STUDY DESIGN: Data on patients with PG managed at 10 participating Anorectal Malformation Network centers in 1999-2019 were collected retrospectively by questionnaire. RESULTS: The cohort included 66 patients (65 females) of median age 1.4 months at diagnosis. The leading referral diagnosis was anal fissure (n = 20 [30.3%]): 23 patients (34.8%) had anorectal malformations. Expectant management was practiced in 47 patients (71.2%). Eight (17%) were eventually operated for local complications. The median time to surgery was 14 months (range, 3.0-48.6 months), and the median age at surgery was 18.3 months (range, 4.8-58.0 months). In the 35 patients available for follow-up of the remaining 39 managed expectantly, 23 (65.7%) showed complete or near-complete self-epithelization by a mean age 15.3 months (range, 1-72 months) and 4 (11.4%) showed partial self-epithelization by a mean age 21 months (range, 3-48 months). Eight patients showed no resolution (5 were followed for ≤3 months). Nineteen patients (28.7%) were primarily treated with surgery. In total, 27 patients were operated. Dehiscence occurred in 3 of 27 operated patients (11.1%). CONCLUSIONS: PG seems to be an underestimated anomaly, frequently associated with anorectal malformations. Most cases heal spontaneously; therefore, expectant management is recommended. When associated with anorectal malformations requiring reconstruction, PG should be excised in conjunction with the anorectoplasty.

Caustic Ingestion in Children: 1 Year Experience in 3 Italian Referral Centers.

OBJECTIVES: Despite the efforts to reduce the exposure to corrosive household products, caustic ingestion in children is currently a significant medical problem. The aims of the present study were to evaluate the clinical consequences of caustic ingestion and to identify prognostic factors that could concur in driving both diagnostic and therapeutic management. METHODS: All consecutive children referred for ingestion of a caustic substance from June 2017 to June 2018 were enrolled. Medical records, laboratory and endoscopic findings were reviewed and analyzed. RESULTS: We enrolled 44 children with caustic ingestion. Alkaline agents were ingested by 26 of 44 (59.1%) patients, whereas acid agents were ingested by 18 of 44 patients (40.9%). Alkaline rather than acid agents were associated with a worse endoscopic score (r: 0.45) and a higher probability of early esophageal stricture occurrence (r: 0.38). The specific risk of the presence of severe esophageal lesions rose progressively with increasing number of symptoms whereas no esophageal injury was found in asymptomatic patients. CONCLUSIONS: Our data suggest that endoscopic evaluation is mandatory in symptomatic patients to direct therapeutic management, but it could be avoided in asymptomatic patients after accidental ingestion, particularly if the ingestion is only suspected and patients have no oropharyngeal burns.

Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?

VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association.

Paratesticular Fibrous Pseudotumor in Children: A Case Report and Review of Literature.

BACKGROUND: Paratesticular fibrous pseudotumor (PFP) is a rare benign tumor that can mimic malignant tumors; thus, radical orchiectomy was the standard treatment in the past. OBSERVATION: A 15-year-old boy came to our attention for a hard right inguinal swelling. An ultrasound showed a highly vascularized mass. The boy underwent a gonadal-sparing excision of the mass that was diagnosed to be a PFP. The patient recovered well, without recurrences at the follow-up. CONCLUSIONS: PFP is mostly asymptomatic, and its diagnosis is incidental. Only further 4 pediatric cases were reported in the literature. Our case confirms that gonadal-sparing surgery is an optimal treatment.

Gastroesophageal reflux in children with neurological impairment: a systematic review and meta-analysis.

Neurologically impaired children (NIC) suffer severe gastroesophageal reflux (GER) with poor fundoplication outcome. Aims of the study were: (1) to determine the recurrence of GER after fundoplication in NIC; (2) to compare fundoplication versus gastro-jejunal tube feeding insertion (GJ) and fundoplication versus total esophagogastric dissociation (TEGD) in primarily treating GER in NIC. Using defined search strategy, two investigators identified all comparative studies reporting the mentioned procedures to primarily treat GER in NIC. The study was conducted under PRISMA guidelines. The meta-analysis was performed using RevMan 5.3. Data are mean ± SD. Of 3840 titles/abstracts screened, 14 studies on fundoplication (2716 pts.) reported a recurrence/persistence of GER higher in NIC (14.2 ± 8.3%) than in neurologically normal (9.4 ± 5.2%; p = 0.0001), with an increased incidence of re-do fundoplication (12.6 ± 7.0% versus 9.1 ± 4.5%; p < 0.01). Three studies revealed a similar risk of undergoing subsequent fundoplication after GJ (4.9 ± 2.1%) or initial fundoplication (12.0 ± 0.6%; p = ns). Four studies showed a lower recurrence of GER following TEGD (1.4 ± 1.1%) than fundoplication (24.8 ± 1.4%; p = 0.002). NIC are at risk of recurrence/persistence of GER after fundoplication or GJ. TEGD seems more effective to primarily treat GER in NIC. Prospective randomized controlled trials are necessary to establish which is the ideal treatment of GER in NIC.

Short and Long-Term Outcomes of PSARP versus LAARP and Single versus Staged Repair for Infants with High-Type Anorectal Malformations: A Systematic Review and Meta-Analysis.

BACKGROUND: We aimed to compare among patients with high-type anorectal malformations (ARM): (i) short- and long-term outcomes of laparoscopic-assisted anorectoplasty (LAARP) compared to classic posterior sagittal anorectoplasty (PSARP) and (ii) the results of single-stage versus staged PSARP. METHODS: Using a defined search strategy, two independent investigators systematically reviewed the English literature. PRISMA guidelines were followed, and meta-analysis was performed using RevMan5.3. RESULTS: Of 567 abstracts screened, 7 papers have been included (254 pts; 121 PSARP, 133 LAARP) in the first systematic review and meta-analysis. The length of hospitalization was shortened in LAARP versus PSARP (10.9 versus 14.4 days; p < 0.0001). PSARP and LAARP were comparable in terms of early postoperative complications (28.9% versus 24.7%; p = ns) and rectal prolapse (21.6% versus 17.5%; p = ns). At long-term follow-up, the presence of voluntary bowel movements (74.0% versus 83.5%; p = ns) and the incidence of soiling (45.5% versus 47.6%; p = ns) were similar in both PSARP and LAARP. Six papers (297 pts) were included in the second systematic review, with three comparative studies included in the meta-analysis (247 pts; 117 one-stage, 130 staged procedures). No significant difference in terms of presence of voluntary bowel movements after single-stage versus staged procedures (72.6% versus 67.3%; p = ns) has been detected. CONCLUSIONS: LAARP seems to be a safe and effective procedure, showing short- and long-term outcomes similar to PSARP. One-stage PSARP could be a safe alternative to the classic three-stage procedure, even for those infants with high-type ARM. Further and larger comparative studies would be needed to corroborate these partial existing data.

Diagnosis and Management of Congenital H-Type Tracheoesophageal Fistula: Results of a National Survey.

BACKGROUND: Congenital h-type tracheoesophageal fistula (H-TEF) without esophageal atresia (EA) represents about 4% of congenital esophageal anomalies. The diagnosis is challenging, and surgery is considered curative. The aim was to report a national survey on the diagnosis, management, and outcome of patients with congenital H-TEF. METHODS: Following approval of the Italian Society of Pediatric Surgery, a survey was sent to all Pediatric Surgery Units to retrospectively collect H-TEF treated in the period 2010-2022. Descriptive analysis was performed, and results are given as prevalence, mean ± standard deviation (SD), or median and interquartile range (IQR). RESULTS: The survey was sent to 65 units. Seventeen responded with one or more cases; 78 patients were diagnosed with H-TEF during the study period. Associated malformations were present in 43%, mostly cardiac (31%). The most frequent symptoms were cough (36%), bronchopneumonia (24%), and dysphagia (19%). H-TEF was detected by tracheobronchoscopy (90%), and/or upper GI (58%), and/or esophagoscopy (32%). The median age at diagnosis was 23 days (1 day-18 years). The most common approach was cervicotomy (76%), followed by thoracoscopy (14%) and thoracotomy (9%). The fistula underwent ligation and section of the fistula in 90% of the patients and clip closure and section in 9%. In one patient, the fistula was cauterized endoscopically. H-TEF preoperative cannulation was performed in 68% of cases, and a drain was placed in 26%. One month after surgery, 13% of the patients had mild persisting symptoms, mainly hypophonia. Recurrence occurred in 5%, and a second recurrence occurred in 1%. CONCLUSIONS: H-TEF prevalence was six cases/year, consistent with the expected rate of five cases/year in our country. The diagnosis was challenging, sometimes delayed, and, in most patients, required multiple examinations. Fistula ligation and section through cervicotomy were the most frequent treatment. Long-term outcomes are good, and recurrence is a rare event.

Pneumovesicoscopic management of bladder neoplasms in children: three case reports.

Urothelial bladder neoplasms (UBN) are uncommon in children and are poorly understood. Their management is contentious, and there are currently no pediatric guidelines available, making it difficult to envision a surgical approach that can be defined as the gold standard for the treatment of these diseases. Pneumovesicoscopy, which has already been used to treat other urological diseases, could be a promising treatment option for selected cases of this group of pathologies. We present our experience with three pediatric UBN cases in which pneumovesicoscopy was used for complete excision of a perimeatal papilloma in two cases and biopsy of a botryoid rhabdomyosarcoma in one. The pneumovesicoscopic approach, in our experience, provided a viable alternative technique for the management of selected cases of UBN.

Pediatric primary spontaneous pneumothorax: a comparison of treatment at pediatric surgery vs. thoracic surgery departments.

Management of pediatric Primary Spontaneous Pneumothorax (PSP) is controversial and based on guidelines on adults. Therapeutic strategies include: observation, needle aspiration, chest drain, or surgery. We aimed to assess: i) differences in the management of PSP in pediatric vs. adult departments; ii) risk of recurrence associated to each therapeutic choice; iii) management of "large" pneumothorax (i.e. >3cm at the apex on chest X-Ray); iv) role of CT scan in addressing the treatment. We reviewed all PSP treated at Pediatric Surgery Unit (PSU) and Thoracic Surgery Unit for adults (TSU) in a 10-year period (2011 to 2020). We included a total of 42 PSP: 30/42 1st episodes and 12/42 recurrences. Among the 30/42 1st episodes, 15/30 were managed in the PSU and 15/30 in the TSU. Observation was significantly most common among PSU patients (9/15, 60%) vs. TSU cases (1/15, 6.7%; p=0.005]. Chest drain placement was reduced in PSU (3/15, 20%) vs. TSU (12/15, 80%; p=0.002). Observational was associated with a reduced risk of recurrence (0/10, 0%) compared to chest drain (7/15, 46.7%; p=0.01). Management of 20/42 "large" pneumothorax was: 4/20 (20%) observation, 10/20 (50%) chest drain, 2/20 (10%) needle aspiration, 4/20 (20%) surgery. Twentythree/ 29 PSP (79.3%) underwent CT-scan after the first episode. Bullae were detected in 17/23 patients and 5/17 (29.4%) had seven episodes of recurrence. PSP patients treated by PSU were more likely to receive clinical observation. Those managed by TSU were mostly treated by chest drain. Observation seems an effective choice for clinically stable PSP, with low risk of recurrence at a mid-term follow-up. CT-scan seems not to detect those patients at higher risk of recurrence.

Current Status of Pediatric Robot-Assisted Surgery in Italy: Epidemiologic National Survey and Future Directions.

Background: Pediatric robot-assisted surgery (RAS) is gaining increasing acceptance. We aimed to assess the diffusion of pediatric RAS in Italy, the training period, indications, preliminary outcomes, and limitations. Materials and Methods: An online questionnaire-based survey was performed. The data about robotic activity of 9 Italian Pediatric Surgery units were collected and analyzed. Results: Most of the participating centers (7/9, 77.8%) started RAS less than 5 years ago with only 2 centers (22.2%) performing RAS since 2010. The training included dry-lab in 5/9 centers (55.5%), wet-lab in 5/9 centers (55.5%), and robot simulator in 7/9 centers (77.8%), followed by an exam to obtain a certificate. The average duration of training was 23.7 hours (range 5-50). A total of 209 robotic procedures was performed in all centers during the period 2010-2018 and included 119 urological (56.9%), 31 gynecological (14.8%), 41 gastrointestinal (19.6%), 12 oncological (5.7%), and 6 other (2.8%) procedures. The docking time significantly fell down after 18 robotic procedures (P = .001). Intraoperative complications were recorded in 4 cases (1.9%). Conversion to laparoscopy was needed in 4 cases (1.9%) whereas conversion to open was required in 6 cases (2.8%). Postoperative complications occurred in 17/209 cases (8.1%) and were graded Clavien I-II in 14 cases (6.7%) and Clavien IIIb in only 4 cases (1.9%). Conclusions: Our study confirmed that RAS has still a limited diffusion in Italy for pediatric patients. Before starting robotic activity, pediatric surgeons have to obtain a certificate after a virtual and experimental training period. A mentorship clinical period of 10 cases under supervision of a proctor is also needed. The main indications in children remain reconstructive urological procedures. RAS is safe in children but its applications are currently limited to patients older than 2 years and with a weight >15 kg, due to the size of robotic ports.

Perinatal diagnosis of congenital urogenital sinus abnormality.

Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case of a female newborn with congenital urogenital sinus abnormality in which the early diagnosis helped us to prevent complications by decompressing the vagina soon after birth. Antibiotic prophylaxis was sufficient to avoid infections and to decompress the genitourinary system, thus allowing a deferred elective surgery to correct the sinus.

Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis.

OBJECTIVE: To estimate the incremental yield of detecting pathogenic or likely pathogenic diagnostic genetic variants (DGV) by whole exome sequencing (WES) over standard karyotype and chromosomal microarray (CMA) analyses in fetuses with isolated increased nuchal translucency (NT) and normal fetal anatomy at the time of 11-14 weeks scan. MATERIALS AND METHODS: Medline and Embase databases were searched. Inclusion criteria were fetuses with NT >95th percentile, normal karyotype and CMA and no associated structural anomalies at the time of the 11-14 weeks scan. The primary outcome was to estimate the incremental yield of detecting pathogenic or likely pathogenic genetic variants by WES over standard karyotype and CMA analyses in fetuses with isolated increased nuchal translucency. The secondary outcomes were the detection of a genetic variant of unknown significance. Sub-analysis according to different NT cutoffs (between 3.0 and 5.5 mm and > 5.5 mm) and considering fetuses with isolated NT in which fetal anatomy was confirmed to be normal at the anomaly scan were also performed. Random effects model meta-analyses of proportion were used to analyze the data. RESULTS: Eight articles (324 fetuses) were included in the systematic review. Of the fetuses with negative standard karyotype and CMA analysis, the 8.07% (95% CI 5.4-11.3) had pathogenic or likely pathogenic genetic variants detected exclusively by WES. When stratifying the analysis according to NT cutoffs, genetic anomalies detected exclusively at WES analysis were found in 44.70% (95% CI 26.8-63.4) of fetuses with NT between 3.0 mm and 5.5 mm and 55.3% (95% CI 36.6-73.2) in those fetuses with NT >5.5 mm and positive WES results. The 7.84% (95% CI 1.6-18.2) had variants of unknown significance identified by WES. When considering fetuses with isolated increased NT and normal fetal anatomy at the anomaly scan, the rate of pathogenic or likely pathogenic genetic variants detected by WES was 3.87% (95% CI 1.6-7.1), while variants of unknown significance were detected in 4.27% (95% CI 2.2-7.0) of cases. CONCLUSIONS: Pathogenic and likely pathogenic genetic variants detected by WES are present in a significant proportion of fetuses with increased NT but normal standard karyotype and CMA analysis, also when no anomalies are detected at the anomaly scan. Further large studies sharing objective protocols of imaging assessment are needed to confirm these findings and to elucidate which gene panels should be assessed in fetuses with isolated increased NT to rule out associated genetic anomalies, which may potentially impact post-natal outcomes.

The Role of Ultrasound in Epicutaneo-Caval Catheter Insertion in Neonates: Systematic Review, Meta-Analysis and Future Perspectives.

Chest and abdominal X-rays after the insertion of an epicutaneo-caval catheter in infants are the standard method of checking the tip location in many neonatal intensive care units. The role of ultrasound in the tip location of the epicutaneo-caval catheter in neonates has been the subject of many recent studies. This systematic review investigates the accuracy of epicutaneo-caval catheter tip location by comparing ultrasound and conventional radiology. We performed a systematic literature search in multiple databases. The selection of studies yielded nineteen articles. The systematic review and meta-analysis were performed according to PRISMA (Preferred Reporting Items for Systematic reviews and Meta-analysis). The analyses showed that ultrasound is a better imaging technique for epicutaneo-caval catheter tip location in the neonatal intensive care unit than conventional radiology. By improving operator training and selecting a standardized echography protocol, ultrasound could become the gold standard for visualizing the epicutaneo-caval catheter tip in the neonatal intensive care unit. This would have some important benefits: (1) increased accuracy in tip location (2); a more rapid use of the central venous access (3); and a significant reduction in radiation exposure.