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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. [ABSTRACT FROM AUTHOR]

Children seem to be less affected by SARS-CoV-2 infection. High risk categories should include patients with Congenital Heart Disease (CHD), both children and adults. We describe the case of a newborn with a postnatal diagnosis of Truncus Arteriosus (TA) type A1 without 22.q.11 deletion syndrome. Soon after birth, SARS-CoV-2 infection was transmitted by the father. Due to the onset of heart failure symptoms, diuretic therapy has been set up. For worsening of clinical conditions, inotropic support with milrinone was added. A progressive reduction of N-terminal-pro hormone BNP over the days has been observed. Fourteen days after the negativization of the nasopharyngeal swab, the patient underwent surgical repair with Cardiopulmonary Bypass (CPB). Postoperative course was not complicated and the patient was discharged in good clinical conditions. There is very little evidence suggesting the optimal timing for surgery in SARS-CoV-2 positive patients. With a lack of specific guidelines, current strategy suggests a symptom-based or a polymerase chain reaction (PCR) test-based approach. In our case it was challenging to determine COVID-19 impact on heart failure symptoms. Our case is the first describing the surgical correction of CHD in a 40 days year old patient, performed in CPB after 14 days from SARS-CoV-2 infection negativization. [ABSTRACT FROM AUTHOR]

Critical hypoxemia soon after birth is the most critical preoperative determinant of neurological outcomes and survival in newborns with Dextro Transposition of the Great Arteries and Intact Ventricular Septum (D-TGAIVS). Our study aimed to define fetal echocardiographic aspects that can better predict neonates with D-TGAIVS at risk for restricted interatrial communication after birth. 31 fetuses with a prenatal diagnosis of D-TGAIVS were included in our study. We divided patients with D-TGAIVS according to the timing of balloon atrial septostomy: Urgent, Not-Urgent and no BAS. We identified five fetal echocardiographic aspects of the interatrial septum (redundant, aneurysmal, flat, fixed, hypermobile). No significant differences in these fetal echocardiographic features were found between the three different groups of D-TGAIVS according to the timing of balloon atrial septostmy. However, only two patients showed flat appearance of interatrial communication: both needed Urgent balloon atrial septostomy. The prevalence of hypermobile septum primum was significantly lower in the control group compared to patients with D-TGAIVS. Fetal echocardiographic aspects cannot predict patients with D-TGAIVS who will not need Urgent balloon atrial septostomy. Therefore, we recommended a delivery in a tertiary center, equipped for Urgent balloon atrial septostomy, for all patients with D-TGAIVS regardless of fetal echocardiographic features. [ABSTRACT FROM AUTHOR]

Purpose: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers.Methods: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium.Results: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%. Ninety-six agreed on screening all patients for TC regardless the type of ARM and 79% start screening at birth. Responses varied in TC definition and diagnostic tools. Fifty percent of respondents prefer ultrasound (US), 21% indicate either US or magnetic resonance (MRI) based on a pre-defined risk of presenting TC, and 21% perform both. Discrepancy exists in complementary test: 82% carry out urodynamic studies (UDS) and only 37% perform somatosensory-evoked potentials (SSEP). Prophylactic untethering is performed in only two centers (8%).Conclusions: Survey results support TC screening in all patients with ARM and conservative management of TC. There is discrepancy in the definition of TC, screening tools, and complementary test. Protocols should be developed to avoid such variability in management. [ABSTRACT FROM AUTHOR]

Background: Pediatric surgeons and patient organisations agree that fewer centers for anorectal malformations with larger patient numbers are essential to reach better treatment. The European Union transacts a political process which aims to realize such centers of expertise for a multitude of rare diseases. All the centers on a specific rare disease should constitute an ERN on that disease. ARM-Net members in different countries report on first experiences with the implementation of national directives, identifying opportunities and risks of this process. Methods: Relevant details from the official European legislation were analyzed. A survey among the pediatric surgeons of the multidisciplinary ARM-Net consortium about national implementation was conducted. Results: European legislation calls for multidisciplinary centers treating children with rare diseases, and proposes a multitude of quality criteria. The member states are called to allocate sufficient funding and to execute robust governance and oversight, applying clear methods for evaluation. Participation of the patient organisations is mandatory. The national implementations all over Europe differ a lot in respect of extent and timeframe. Conclusions: Establishing Centers of Expertise and a ERN for anorectal malformations offers great opportunities for patient care and research. Pediatric surgeons should be actively engaged in this process. [ABSTRACT FROM AUTHOR]

Purpose: Epididymo-orchitis (EO) is infrequently reported in anorectal malformation (ARM) cases. Therefore, it is difficult to assess its risk factors. Methods: A total of 110 male patients who were operated on for ARM at the same Institution over a period of 13 years were contacted. Association was assessed between EO and the following: spinal dysraphism (SD), symptomatic VUR (VUR), and bowel management (BM) requiring enemas. The data were analyzed with the Chi-square test. Results: A total of 89 patients were contacted. Ten cases of EO were found, and all occurred in patients with recto-urethral (RU) fistula after reconstruction. The patients' age at first episode ranged between 4 and 11 years. RU fistula patients experiencing EO (Group A, 10 patients) were compared with those without EO (Group B, 33 patients). VUR occurred in 9/10 cases in Group A and in 13/33 cases in group B (Chi-square 7.8658, p = 0.005038). SD was present in 4/10 cases in group A and in 13/33 cases in Group B (Chi-square 0.0434, p = 0.83491). A total of 8/10 cases in Group A and 12/33 cases in Group B were on BM (Chi-square 5.87, p = 0.0015). Conclusions: EO occurs in approximately in 20 % of male cases with ARM, and recto-urinary communication and should be considered the primary diagnosis in the presence of testicular pain. This could avoid unnecessary surgical exploration, and the family should be counseled about this subject [ABSTRACT FROM AUTHOR]

The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size <5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size >5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (<2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup. [ABSTRACT FROM AUTHOR]

Purpose: The best anesthesia for newborns/infants necessitating colorectal surgery remains questionable. Endovenous and locoregional anesthesiological approaches were compared to determine the influence on stress response. Methods: Patients with anorectal malformations or Hirschsprung's disease were randomized to inhalatory/epidural anesthesia (IPA) or inhalatory/endovenous anesthesia (IEA). Heart rate, blood pressure, oxygen saturation, serum concentrations of dehydroepiandrosterone, cortisol, and glucose were recorded 24 h before operation (T0), after tracheal intubation (T1), 120 min after skin incision (T2), 60 min (T3) and 24 h after operation (T4). Results: Seventeen patients were enrolled in the study, 8 receiving IPA, and 9 IEA. Heart rate, blood pressure, oxygen saturation remained stable and normal, without statistical differences between the two groups, during the study period. Similar cortisol and glucose levels showed no statistical differences between groups. Dehydroepiandrosterone values were significantly higher in IEA during anesthesia (T1-T3) compared with IPA (T1: 494.0 vs. 266.5, p < 0.05; T2: 444.0 vs. 201.0, p < 0.05; T3: 385.0 vs. 305.0, p < 0.05). Conclusion: This study suggests that epidural and endovenous anesthesia are both effective in intra- and postoperative period. This preliminary report suggests that IPA is more efficient compared to IEA in controlling stress reaction related to surgery. Further larger studies are needed to confirm these findings. [ABSTRACT FROM AUTHOR]

Objective:With increasing use of routine prenatal ultrasound, prenatal counseling after diagnosis of congenital malformations is frequently offered to prospective parents. We aimed to assess if the communication of diagnosis of a congenital anomaly in the fetus meets American Psychiatric Association (APA) criteria for trauma in parents.Study Design:In the period ranging from 2003 to 2009 a preliminary investigation was conducted with 165 prospective mothers and 91 prospective fathers being interviewed after communication of diagnosis. Analysis of statements was made independently by two psychologists considering the APA definition of trauma.Result:A total of 145 mothers and 76 fathers experienced the communication of diagnosis in their fetus as a traumatic event. There was no correlation between type of malformation and trauma nor was there statistical difference between mother and father regarding the stressor.Conclusion:Communication of diagnosis of a fetal anomaly can be a traumatic event and should be dealt with consequently. Given the therapeutic value of sharing traumatic experience such practice should be encouraged as part of the consultation process. [ABSTRACT FROM AUTHOR]

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings. [ABSTRACT FROM AUTHOR]

The prognosis of extrahepatic biliary atresia (EHBA) and multiple apparently not linked anomalies has never been disclosed. We reported a rare case affected by biliary, anorectal and esophageal atresia, and collected the uncommon associations of EHBA with multiple unrelated congenital defects to make known the prognosis. An elevated rate of hepatic failure despite surgery and an early poor outcome were found in the above-mentioned associations. A liver transplantation at the first months of life could be considered to improve outcome. [ABSTRACT FROM AUTHOR]

In congenital diaphragmatic hernia (CDH), chest tube insertion at repair could determine rapid overexpansion of hypoplastic lungs, increasing the risk of pneumothorax. Therefore, in our institution no drainage tube at CDH repair was inserted after 1997. Afterwards several patients needed chest drainage for cardiopulmonary distress due to pleural effusion (PE) during the postoperative course. The aims of this study are to establish the incidence of PE requiring drainage for cardiopulmonary distress during postoperative course in CDH and to assess its eventual increase in patients with patch repair. Furthermore, the aetiology and treatment of PE are highlighted. Records of high-risk CDH operated on from 1998 to 2004 were reviewed. No chest tube was inserted at repair. Drainage was accomplished postoperatively if a cardiopulmonary distress due to PE occurred. Groups with and without patch were compared on gender, gestational age, birth weight, side of hernia, PE, hernial sac, central venous line and venous thrombosis, using the chi(2) and Student's t tests. Overall mortality rate was recorded. Out of 76 patients, 23 (30%) required patch repair. The PE occurred in 22 out of 76 patients, and in 68% of cases a chylothorax resulted. Birth weight was significantly lower, and the PE rate was significantly higher in patients with patch. Pleural drainage yielded improvement of ventilatory and respiratory parameters in all cases. Overall mortality rate was 16 and 23% in patients that required chest drain. The incidence of PE was 30% in CDH and significantly higher in patients with patch. The increased mortality rate in patients with PE causing cardiopulmonary distress warrants chest tube drainage before instability occurs. [ABSTRACT FROM AUTHOR]

Previous studies have assessed informational needs of parents of sick fetuses, neonates and children to identify favourable patterns of physician-parent interaction. The aim of this paper was to assess parents' informational needs before and after the operation when the one affected by a surgically correctable anomaly is a newborn. In the period ranging from 1997 to 2000 all couples with newborns undergoing major surgical procedures at birth, at the Newborn Surgery Unit of the Hospital Bambino Gesù, were surveyed by means of a questionnaire. Thirty couples form the object of the study. The two genders did not show significant difference in any of the considered items. All 30/30 mothers (M; 100%) and 29/30 fathers (F; 97%) had never heard about the anomaly before the diagnosis was established in their baby. All parents (100%) stated that it would be better if the surgeon informed them with written educational material. Principal informational needs before operation regard: the description of the anomaly (M = 10; F = 11) and the prognosis in terms of survival chances of the baby (M = 17; F = 15); after surgery the cause of the anomaly (M = 5; F = 3); the steps of the recovery process (M = 10; F = 12) as well as the quality of their baby's life (M = 9; F = 9). In the immediate perioperative period the surgeon should well address parents' informational needs, which may significantly differ from his communication plan. [ABSTRACT FROM AUTHOR]

To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal anomaly, a prospective analysis of different types of NIO from 1990 to 1998 was undertaken. Immunoreactive trypsin measurement, genetic studies, and sweat tests were performed to confirm or rule out CF. Cases with prenatal diagnosis were analyzed for gestational age, dilated bowel, ascites, hyperechoic bowel, and calcifications. Of 80 neonates, 19 (24%) had CF: 2/33 (6%) JA, 6/14 (43%) MPS, 1/14 (7.1%) MP, 10/10 (100%) MI, and 0/9 V. Thirty (37.5%) had a prenatal diagnosis of an intestinal anomaly. The overall incidence of CF in NIO with a prenatal diagnosis of intestinal anomaly was 4/30 (13%), or 333 times the estimated risk of CF in the general population. A hyperechoic pattern with dilated bowel was associated with higher specificity for CF: 3/3 cases (100%), followed by hyperechoic bowel with ascites: 3/4 cases (75%). All babies with any type of NIO should thus be screened for CF. Prenatal screening for CF should be indicated in all pregnancies with US patterns of specific intestinal disorders. [ABSTRACT FROM AUTHOR]

Unlabelled: Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and December 1995 was studied retrospectively. The evolution of lesions was followed in utero by serial ultrasound monitoring. Chest X-ray was performed at birth in all neonates and CT only in the symptomatic ones. CAML was macrocystic in three cases and microcystic in six. No polyhydramnios, hydrops or associated malformations were seen. In four cases, CAML was confirmed at birth and required surgery. The lesion decreased in size prenatally in five fetuses, of whom only one underwent surgery. In two further cases a prenatal diagnosis of CAML was changed to diaphragmatic hernia.Conclusion: Given the possible clinical disappearance or resolution of cystic adenomatoid malformation of the lung, we believe that surgery is justified at birth only in symptomatic and radiologically positive neonates. It could be safely delayed in those asymptomatic patients with either positive or negative chest X-ray. The former need computed tomography at birth, whereas, in the latter, it should be performed at 6 months of age for a more definitive assessment of the patient. [ABSTRACT FROM AUTHOR]

The varicocele is a common cause of adult male infertility, but surgical treatment in adolescence still remains controversial. Many data suggest that early recognition and correction of a varicocele may prevent testicular damage and sterility. The argument that infertility does not necessarily result in each case is probably not relevant due to uncertainty involved in an individual case. Changes similar to those observed in infertile adults occur in the affected testicle in adolescents with varicocele. High ligation of the spermatic veins is associated with a 20% recurrence rate. Twenty-five children (mean age 12 years 5 months) underwent microsurgical treatment for a left-sided varicocele. All had antegrade phlebography under general anesthesia to distinguish the type of varicocele and determine the proper surgical approach. Twenty (80%) patients had type 1, 2 (8%) type 2, and 3 (12%) had a third type. All were treated using Belgrano's technique, which seems to allow anatomic-physiologic venous return from the testis. The mean postoperative hospitalization was 4 days and the mean follow-up time 17 months. Begrano's technique is a complete, easy and esthetically effective procedure for treating varicocele in childhood. It is also advisable to employ phlebography in patients treated by the most common surgical approach to avoid recurrences. These findings encourage early surgical treatment, which in our experience was always effective. [ABSTRACT FROM AUTHOR]

From January 1976 to October 1986, 107 cases of esophageal atresia (EA) were admitted to the Neonatal Surgical Unit of the Bambino Gesú Hospital of Rome; 86% of the children had a type III EA. Associated anomalies were present in 47%; they were multiple in 18%. Cardiological malformations were the most frequent followed by digestive, skeletal, urological, and chromosomal aberrations. Surgical treatment was attempted in all children except 3, who died before surgical correction, in an effort to perform an end-to-end anastomosis in a single layer through a transpleural approach. According to the results, children were divided into two groups of 50 patients each: group 1 (1976-1981); and group 2 (1981-1986). Anastomosis was possible in 69% of children (68.7% in group 1, 69.3% in group 2). After 1983, gastrostomy fell into gradual disrepute and a transanastomotic tube was used. Immediate complications were seen in 36.6% of cases; in no case did recurrence of the tracheoesophageal fistula occur. The overall mortality decreased from 50% (group 1) to 30% (group 2). In the two periods considered, the mortality according to Waterston's risk classes was 28.5% → 5,8% (class A), 42.1% → 11.7% (class B), 82.3% → 68.7% (class C). Of a total of 41 deaths, 47% were due to severe associated malformations: bronchopneumopathy or prematurity seemed to have less importance in establishing the prognosis. [ABSTRACT FROM AUTHOR]

In fetal intestinal perforation, inflammation leads to production of ascites. Small bowel is usually involved by perforation with the distal ileum the most frequent site. We report the first case of prenatal perforation of the intraperitoneal part of the rectum, which presented as severe ascites at a 37 weeks’ gestation antenatal ultrasonography. As none of the reported causes of intestinal perforation were identified in our case, its etiology remained idiopathic.Journal of Perinatology (2006) 26, 717–719. doi:10.1038/sj.jp.7211602 [ABSTRACT FROM AUTHOR]

OBJECTIVE:: To assess whether or not a correlation exists between antenatal consultations and parental anxiety. STUDY DESIGN:: In total, 31 couples undergoing prenatal consultation after a diagnosis of a surgically correctable anomaly were asked to fill in a questionnaire (Spielberger State-Trait Anxiety Inventory) measuring anxiety levels (AL) both after the first consultation and at birth. Prenatal counselling was done by a perinatal team including paediatric surgeon, obstetrician, and psychologist. RESULTS:: Malformations were: eight diaphragmatic hernias, 10 intestinal atresias, four abdominal masses, nine abdominal wall defects. Each fetus was subsequently followed up at regular intervals from diagnosis to birth. AL at birth were then compared with the number of antenatal consultations. A negative correlation (r=-0.688, p<0.001) was found between the number of consultations and the level of anxiety at birth. Patients having at least two consultations had significantly lower anxiety levels at birth. CONCLUSION:: Irrespective of the type of malformation, there is evidence that having more than one antenatal consultation may significantly reduce AL at birth. Therefore, early antenatal diagnosis should be encouraged in order to increase as much as possible chances of repeated consultations for the prospective parents.Journal of Perinatology (2003) 23, 652-654. doi:10.1038/sj.jp.7210992 [ABSTRACT FROM AUTHOR]

The gliding testis is located below the external ring; it can be manipulated to the upper scrotum but tends to ascend to its original position. Histologic changes can be detected in these gonads by 7 years of age. We evaluated 427 consecutive prepubertal boys referred for cryptorchidism. One hundred and twenty-three had classical undescended testes: 71 ectopic, 55 retractile, and 178 (mean age 6 yrs. 2 mos.) gliding testes. The gliding testes were smaller than controlaterals in 24% of boys. All gliding testes were unilateral, whereas bilaterality was 85% in the retractile group (P < 0.0001), 17.5% in the undescended (P < 0.001), and 10% in the ectopic group (P < 0.01). There was a history of one or more of the following conditions: orchidopexy (3), hormonal treatment (5) late testicular descent (9), spermatic cord torsion (5), testicular pain (10), actual retractile testes (20) or actual gliding testis (58), was present in 93 (52.2%) of the fathers of the gliding group. Forty-seven (81%) paternal gliding testes were hypotrophic. Seventy-five boys with gliding testis underwent initial hormonal therapy with transient benefit, and 57 were operated on. Two anatomical findings are typical of the gliding testis: (i) the absence of the gubernaculum, and (ii), a processus vaginalis partially patent from the upper scrotum to the mid groin area. This latter feature explains the mobility of the gliding testis from the external ring to the upper scrotum. The absence of the gubernaculum may be responsible for a higher incidence of spermatic cord torsion in this population.(ABSTRACT TRUNCATED AT 250 WORDS) [ABSTRACT FROM AUTHOR]