Including the liver in the visceral allograft: Impact on donor-specific anti-HLA antibodies and long-term outcomes.

Humoral immunity emerges as a risk factor for graft failure after visceral transplantation (VTx) and development of donor-specific anti-HLA antibodies (DSAs) has been linked with poor outcomes. In most cases, a simultaneous liver transplant can be safely performed in sensitized patients with DSA and appears protective against lymphocytotoxic antibodies. We investigated the incidence of acute (AR) and chronic rejection (CR) in 32 VTx without any B cell-depleting pre-treatment (6 isolated intestinal transplants (IT) and 26 liver-containing, multivisceral transplants (MVT) and assessed the presence of donor-specific antibodies (DSA) pre- and post-transplantation. Twenty-one patients (65 %) developed AR, 15 (57 %) of the MVT and 6 (100 %) of the IT (p = 0.05). CR occurred in 4 IT (60 %, p < 0.001). At one month, de novo DSA were present in 71 % of VTx (66 % MVT vs 100 % IT, p = 0.09). At the last available follow-up, 69 % of the MVT and 50 % of the IT patients were DSA-free. De novo DSA seemed more persistent (7/19, 37 %) than pre-Tx DSA (1/6, 17 %; p = n.s.), de novo DSA were more frequently specific for HLA class II than class I, 16/19 (84 %) vs. 7/19 (37 %; p = 0.003), and HLA-DQ was their most frequent target HLA. DQ mismatches appeared to be a risk factor for developing de novo DSA. In conclusion, liver-containing visceral allografts have superior short- and long-term outcomes compared with liver-free allografts. De novo DSA develop early and frequently after VTx performed without B cell-depleting induction therapy, but the exact role of DSA in the pathogenesis of rejection remains unclear.

A nordic multicenter study on contemporary outcomes of pediatric short bowel syndrome in 208 patients.

BACKGROUND & AIMS: Despite advances in the management of short bowel syndrome related intestinal failure (SBS-IF), large-scale contemporary pediatric studies are scarce. The aim of this multicenter study was to assess key outcomes and clinical prognostic factors in a recent Nordic pediatric SBS-IF population. METHODS: Patients with SBS-IF treated during 2010-2019, whose parenteral support (PS) started at age <1 year and continued >60 consecutive days were included and retrospectively reviewed. All six participating centers followed multidisciplinary SBS-IF management. Risk factors for PS dependency, intestinal failure associated liver disease (IFALD) and mortality were assessed with Cox regression and Kaplan Meier analyses. IFALD was defined with serum liver biochemistry levels. RESULTS: Among 208 patients, SBS-IF resulted from NEC in 49%, gastroschisis w/wo atresia in 14%, small bowel atresia in 12%, volvulus in 11%, and other diagnoses in 14%. Median age-adjusted small bowel length was 43% (IQR 21-80%). After median follow up of 4.4 years (IQR 2.5-6.9), enteral autonomy was reached by 76%, none had undergone intestinal transplantation, and overall survival was 96%. Half of deaths (4/8) were caused by septic complications. Although biochemical cholestasis occurred only in 3% at latest follow-up and none of deaths were directly caused by IFALD, elevated liver biochemistry (HR 0.136; P = 0.017) and shorter remaining small bowel (HR 0.941; P = 0.040) predicted mortality. Shorter remaining small bowel and colon, and presence of end-ostomy were the main predictors of PS dependency, but not IFALD. Patients with NEC reached enteral autonomy more efficiently and had decreased incidence of IFALD compared to other etiologies. CONCLUSIONS: Although with current multidisciplinary management, prognosis of pediatric SBS is encouraging, septic complications and IFALD still associated with the remaining low mortality rate.

Surgical management of necrotising enterocolitis in Sweden: A national cohort study.

AIM: Necrotising enterocolitis (NEC) is the dominating surgical emergency in preterm neonates. The aims were to investigate indications, surgical management and mortality for surgically treated neonates with NEC. METHODS: Data were retrieved from the Swedish Neonatal Quality Register for Swedish neonates with surgically treated NEC from 1 January 2017 to 31 December 2021. Diagnosis was validated by surgical records and histopathology. Neonates with isolated spontaneous intestinal perforation were excluded. RESULTS: In total, 109 neonates were included. Median gestational age was 25 weeks (22-38), and median birth weight was 771 g (269-3920). Preoperative pneumoperitoneum was found in 32%, portal venous gas in 25% and clinical deterioration on conservative treatment in 26% of the neonates. Among the 97 neonates presenting with small bowel necrosis, single-focal NEC occurred in 38 (39%), multifocal NEC in 35 (36%) and panintestinal NEC in 24 (25%). A primary anastomosis was performed in 10/87 (11%) of the neonates with bowel resection at primary surgery. Clip-and-drop technique was applied in 24/87 (28%).Mortality rate was 37%. CONCLUSION: Mortality was well comparable with earlier reports considering exclusion of spontaneous intestinal perforation (SIP) and the low gestational age of the study population. Resection of necrotic bowel with stoma formation was the dominating surgical method.

Transabdominal ultrasound of rectal diameter in healthy infants: a prospective cohort study during the first year of life.

AIM: Transabdominal rectal ultrasound (TRU) is used to measure transverse rectal diameter (TRD) in order to diagnose functional constipation (FC) and megarectum, and to evaluate treatment. The proposed cut-off value is 3.0 cm. Currently, no standardised values exist for children below the age of 4. We used repeated TRUs to establish reference TRD values in healthy infants and to describe rectal diameter in infants with FC. METHODS: This prospective observational cohort study enrolled healthy term babies from a maternity department. TRD measurements were taken at 2 and 12 months of age, and questionnaires completed in interviews helped diagnose FC according to Rome III criteria. RESULTS: Two hundred TRUs were performed on 110 infants (62 males). In infants without FC anytime, the mean TRD at 2 months was 1.56 (SD 0.32) cm and at 12 months 1.78 (0.47) cm, while the 95th percentiles were 2.26 and 2.64 cm, respectively. In 77 infants with two TRUs, the mean increase was 0.21 cm (95% confidence interval: 0.099-0.318). Thirteen infants were diagnosed with FC during the study period. At 2 and 12 months of age, there was no difference in TRD between infants with and without FC. CONCLUSION: TRD increased from 2 to 12 months. We suggest 2.3 cm as an upper limit for normal TRD at 2 months and 2.6 cm at 12 months. Infants diagnosed with FC did not have a greater TRD than infants without, either before or after treatment. Further studies are needed to evaluate the usefulness of TRU in infants with FC or megarectum.

Bowel Control, Bladder Function, and Quality of Life in Children with Cloacal Malformations.

INTRODUCTION: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca. MATERIALS AND METHODS: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium. Patients with a cloacal malformation, 4-17 years of age, were eligible. Data including patient characteristics, surgical procedures, and complications were retrieved from case records. Established questionnaires with normative control values evaluating bowel function, bladder function, and health-related quality of life (HRQoL) were sent to the patients and their caregivers. The study was approved by the participating center's Ethics Review Authorities. RESULTS: Twenty-six (67%) of 39 eligible patients with median age 9.5 (range, 4-17) years responded. Twenty-one (81%) patients had a common channel ≤3 cm. Imaging confirmed sacral anomalies in 11 patients and spinal cord abnormalities in nine. Excluding patients with stoma (n = 5), median bowel function score was 12 [7-19], and 5 patients (20%) reported a bowel function score ≥17, approaching normal bowel control level. Bowel management increased proportion of socially continent school-aged children to 52%. Six (23%) patients had a permanent urinary diversion or used clean intermittent catheterization (CIC), while majority (70%) of the remaining patients were urinary continent. The reported HRQoL was comparable to healthy Swedish children. CONCLUSION: Whilst well-preserved spontaneous bowel control was rare, a majority of patients were dry for urine without any additional procedures. Few patients experienced social problems or negative impact on HRQoL due to bladder or bowel dysfunction. LEVEL OF EVIDENCE: Level IV.

High-Resolution Anorectal Manometry-A Prospective Cohort Study in Healthy Infants.

OBJECTIVES: Functional gastrointestinal disorders (FGD) are common during early childhood. In severe defecation disorders, anorectal manometry (AM) is done to exclude aganglionosis. High-resolution anorectal manometry (HRAM) can probably improve diagnostics but normative data in infants are scarce. This study aims to provide HRAM data in healthy infants overall and in subgroups of infants with FGD, defined as functional constipation (FC), infant colic (IC), and infant dyschezia (ID) (ROME 3 criteria). METHODS: This prospective observational cohort study enrolled healthy term infants, having HRAM at 2 and 6 months, using a water-perfused pediatric anorectal silicone catheter. Data were provided for presence of anorectal waves and recto anal inhibitory reflex (RAIR), volume needed to elicit RAIR and anal resting pressure (ARP). Questionnaires at 2 and 6 months identified subjects with FC, IC, and ID. RESULTS: A total of 187 HRAM investigations were done in 107 infants, without any complications. Normal RAIR was found in all, at least on one occasion. Mean ARP increased between 2- and 6-month investigations in infants without FGD. No other differences in HRAM data could be seen between infants with or without an FGD. At 2 months FC, IC, and ID were seen (2%, 4%, and 17%), whereas at 6 months only FC and ID were seen (7% and 1%). CONCLUSION: We can provide data on HRAM in infants at 2 and 6 months of age. When performing repeated HRAM in healthy infants, RAIR was found in all subjects. HRAM is safe, easy tolerable, and can be recommended in infants with or without FGD.

Using trigger tools to identify triage errors by ambulance dispatch nurses in Sweden: an observational study.

OBJECTIVES: This study aimed to assess whether trigger tools were useful identifying triage errors among patients referred to non-emergency care by emergency medical dispatch nurses, and to describe the characteristics of these patients. DESIGN: An observational study of patients referred by dispatch nurses to non-emergency care. SETTING: Dispatch centres in two Swedish regions. PARTICIPANTS: A total of 1089 adult patients directed to non-emergency care by dispatch nurses between October 2016 and February 2017. 53% were female and the median age was 61 years. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome was a visit to an emergency department within 7 days of contact with the dispatch centre. Secondary outcomes were (1) visits related to the primary contact with the dispatch centre, (2) provision of care above the primary level (ie, interventions not available at a typical local primary care centre) and (3) admission to hospital in-patient care. RESULTS: Of 1089 included patients, 260 (24%) visited an emergency department within 7 days. Of these, 209 (80%) were related to the dispatch centre contact, 143 (55%) received interventions above the primary care level and 99 (38%) were admitted to in-patient care. Elderly (65+) patients (OR 1.45, 95% CI 1.05 to 1.98) and patients referred onwards to other healthcare providers (OR 1.58, 95% CI 1.15 to 2.19) had higher likelihoods of visiting an emergency department. Six avoidable patient harms were identified, none of which were captured by existing incident reporting systems, and all of which would have received an ambulance if the decision support system had been strictly adhered to. CONCLUSION: The use of these patient outcomes in the framework of a Global Trigger Tool-based review can identify patient harms missed by incident reporting systems in the context of emergency medical dispatching. Increased compliance with the decision support system has the potential to improve patient safety.

Patient-reported Swedish nationwide outcomes of children and adolescents with total colonic aganglionosis.

BACKGROUND: The aim of this study was to evaluate the nationwide outcome of children with total colonic aganglionosis (TCA) during the last 20years. METHODS: This was an observational, cross-sectional study where all patients with TCA, including aganglionosis of 0-50cm of ileum, born in Sweden 1995-2014 were included. Data were collected from the medical records. Patients >4years old without stoma answered a questionnaire regarding bowel function (bowel function score, BFS, score 1-20), medical treatment and nutrition. RESULTS: Twenty-seven children were included. Twenty-five children were reconstructed at median age of 56 (4-236) weeks. Reconstruction procedures included Swenson (6), Soave (5), mucosectomy with short muscular cuff with or without J-pouch (9), Duhamel (3) and Rehbein (2). There was no mortality. The median follow-up time was 9.5years (8months-20years). At follow-up 7 (26%) patients had an ileostomy, 4 with a syndrome. Eight patients required parenteral support, until a median age of 11 (2-24) months. Oral energy support was used by 5/27 (15%), still 5/22 (23%) were underweighted. Obstructive symptoms were reported by 7/20 (31%). All 17 patients >4years old completed the BFS questionnaire at median age of 10 (4-20) years. Median stool frequency/24h was 5 (1-30). Fecal accidents at least once per week was reported by 4 (24%), and social problems by 8 (47%). The median BFS was 15 (11-19) without any gender differences. CONCLUSION: One-third of patients with TCA report obstructive symptoms, one-third need additional nutrition and one-fifth require a permanent stoma. TCA have a negative impact on social life. Subsequently, children with TCA need a careful lifelong follow-up of specialized teams.

Fifteen years' experience of intestinal and multivisceral transplantation in the Nordic countries.

OBJECTIVE: Intestinal and multivisceral transplantation have gained acceptance as treatment modalities for patients with: intestinal failure and life-threatening complications of parenteral nutrition (PN), rare cases of vascular abdominal catastrophes and selected cases of low-grade neoplastic tumors such as neuroendocrine pancreatic tumors and desmoids involving the mesenteric root. The aim was to describe the survival and nutritional outcome in the transplanted Nordic patients and the complications attributed to this procedure. METHOD: The authors included all Nordic patients transplanted between January 1998 and December 2013. Information on patients transplanted outside the Nordic region was collected through questionnaires. RESULTS: A total of 34 patients received different types of intestinal allografts. Currently, there are two Nordic transplant centers (n = 29) performing these procedures (Gothenburg, Sweden n = 24, Helsinki, Finland n = 5). The remaining five patients were transplanted in the USA (n = 3) and the UK (n = 2). Most patients were transplanted for life-threatening failure of PN (70%) caused primarily by intestinal motility diseases (59%). Allograft rejection was the most common complication and occurred in 79% of the patients followed by post-transplantation lymphoproliferative disorders (21%) and graft-versus-host disease (18%). The 1- and 5-year survival was 79% and 65% respectively for the whole cohort and nutritional autonomy was achieved in 73% of the adults and 57% of the children at 1 year after transplantation. CONCLUSION: This collective Nordic experience confirms that intestinal transplantation is a complex procedure with many complications, yet with the possibility to provide long-term survival in selected conditions previously considered untreatable.

Megarectosigmoid in children with anorectal malformations: long term outcome after surgical or conservative treatment.

PURPOSE: Megarectosigmoid (MRS) is commonly seen in children with anorectal malformations (ARM) and contributes to the high incidence of constipation. Surgical resection has been advocated by some, whereas others propose intense bowel management as the treatment of choice. The aim of this study was to evaluate outcome of both bowel function and configuration after surgical or conservative treatment of MRS in ARM patients. MATERIALS AND METHODS: The study included 79 patients with ARM, excluding perineal fistula, (48 boys, 31 girls) from 1986 to 2007. MRS was diagnosed at colostomy formation or contrast enema performed in the neonatal period. Early in the period, the majority of the patients were treated surgically, whereas in the late 1990 s, a conservative approach with intensified bowel treatment was implemented. Contrast enema and bowel function investigations were performed repeatedly during follow-up. RESULTS: MRS, according to radiological criteria, was diagnosed in 26/79 (33%) of the ARM children. Bowel functional outcome was similar regardless of surgical or conservative treatment and comparable to function in ARM children with non-MRS. The radiological signs of rectal dilatation and elongation disappeared after surgical intervention, but normalisation of the rectosigmoidal configuration was also seen with age in the conservative group. CONCLUSIONS: Bowel functional outcome in ARM children with MRS was similar after either surgical or conservative treatment during follow-up. The radiological signs of rectal dilatation and elongation disappeared also in the conservatively treated patients over time.

Longitudinal study of lower urinary tract function in children with anorectal malformation.

UNLABELLED: Neurogenic bladder dysfunction (NBD) in children with anorectal malformation (ARM) has been reported in many publications, but with variations in prevalence and connection to type of ARM and spinal cord/sacral malformations. The prevalence of ARM patients with functional nonneurogenic dysfunction, on the contrary, has been addressed only sparsely. Since constipation and soiling have been shown to often accompany functional urinary tract symptoms in children without malformations, and treatment of constipation often improves bladder symptoms, it is interesting to assess such a connection in ARM patients. This study assessed lower urinary tract dysfunction (LUTD) overall in ARM children. Special attention was paid to whether patients with poor bowel function had more LUT symptoms, excluding those with urological reasons for the LUTD (NBD and urogenital malformations). PATIENTS AND METHODS: Children with ARM, excluding those with perineal fistula, were included (n = 41). Bladder function was investigated at 5 (n = 25), 10 (n = 28), and 15 (n = 13) years using a structured questionnaire and flow residual. A scoring system was used. In addition, healthy children of comparable age were assessed using the same questionnaire. Data on bowel function were also available, as presented in a recent article. In children with NBD, cystometry was also used at follow-up. RESULTS: NBD was seen in 9 children (22%), whereas nonneurogenic LUTD was diagnosed in 14 cases (34%). A clear difference between the groups was seen, with a permanent dysfunction in neurogenic and often transient and mild in the nonneurogenic LUTD. A significant correlation between LUTD and bowel dysfunction was identified when all LUTD was included (p = 0.045). When children with neurogenic and urological causes of LUTD were excluded, the remaining children with LUTD had lower scores for bowel function than those with normal bladder function, but the difference was not significant (p = 0.1291). CONCLUSION: Poor bowel function was often seen together with LUTD. In children with NBD, the connection was attributable to a mutual impairment of the nerve supply to both systems. Children with nonneurogenic and nonurological causes of the LUTD also had lower bowel scores than those with normal bladder function; although not significant, it suggests that poor bowel function was responsible for an increase in LUT symptoms.

In Vivo Application of Tissue-Engineered Veins Using Autologous Peripheral Whole Blood: A Proof of Concept Study.

Vascular diseases are increasing health problems affecting > 25 million individuals in westernized societies. Such patients could benefit from transplantation of tissue-engineered vascular grafts using autologous cells. One challenge that has limited this development is the need for cell isolation, and risks associated with ex vivo expanded stem cells. Here we demonstrate a novel approach to generate transplantable vascular grafts using decellularized allogeneic vascular scaffolds, repopulated with peripheral whole blood (PWB) in vitro in a bioreactor. Circulating, VEGFR-2 +/CD45 + and a smaller fraction of VEGFR-2 +/CD14 + cells contributed to repopulation of the graft. SEM micrographs showed flat cells on the luminal surface of the grafts consistent with endothelial cells. For clinical validation, two autologous PWB tissue-engineered vein conduits were prepared and successfully used for by-pass procedures in two pediatric patients. These results provide a proof of principle for the generation of transplantable vascular grafts using a simple autologous blood sample, making it clinically feasible globally.

Longitudinal study of bowel function in children with anorectal malformations.

PURPOSE: Longitudinal follow-up of changes in bowel function in children with anorectal malformations (ARMs) with or without spinal cord pathology and neurogenic bladder dysfunction (NBD) as they grow. Another purpose was to identify predictors influencing bowel functional outcome. MATERIAL AND METHODS: The study included 41 patients with ARM, excluding perineal fistula (21 boys and 20 girls). Bowel function was evaluated at ages 5, 10 and 15 years using a structured questionnaire and a three-week registration of number and time of bowel movements, episodes of fecal leakage and soiling. Additional bowel treatment with enemas and stool softeners and use of diapers were recorded. A group of 52 healthy boys and girls was used as control. RESULTS: A successive improvement in functional outcome with age in children with ARM and normal spinal cord was seen with respect to continence, soiling and constipation. Continence was achieved earlier in girls than in boys (at 10 years: girls 80%, boys 36%). Soiling and constipation decreased with age both in grade and frequency (at 10 years low grade soiling: girls 53%, boys 64%). Boys with spinal cord malformation with NBD in combination with prostatic/bladder neck fistula (PRF/BNF) and sacral agenesis had the worst functional outcome with minimal possibility of improvement over time. Functional outcome in girls with NBD and tethered cord did not differ significantly from those without NBD and with a normal spinal cord. Psychosocial co-morbidity, neuropsychiatric disorders, developmental delay and megarectosigmoid were also risk factors impeding the functional outcome. CONCLUSION: In the present study there was a successive improvement in bowel function during childhood and adolescence in ARM children, but they did not achieve the level of healthy children. NBD, spinal cord malformation, sacral malformation and PRF all were negative predictive factors for bowel score at 5 years.

Transplantation of an allogeneic vein bioengineered with autologous stem cells: a proof-of-concept study.

BACKGROUND: Extrahepatic portal vein obstruction can have severe health consequences. Variceal bleeding associated with this disorder causes upper gastrointestinal bleeding, leading to substantial morbidity and mortality. We report the clinical transplantation of a deceased donor iliac vein graft repopulated with recipient autologous stem cells in a patient with extrahepatic portal vein obstruction. METHODS: A 10 year old girl with extrahepatic portal vein obstruction was admitted to the Sahlgrenska University Hospital in Gothenburg, Sweden, for a bypass procedure between the superior mesenteric vein and the intrahepatic left portal vein (meso Rex bypass). A 9 cm segment of allogeneic donor iliac vein was decellularised and subsequently recellularised with endothelial and smooth muscle cells differentiated from stem cells obtained from the bone marrow of the recipient. This graft was used because the patient's umbilical vein was not suitable and other strategies (eg, liver transplantation) require lifelong immunosuppression. FINDINGS: The graft immediately provided the recipient with a functional blood supply (25-30 cm/s in the portal vein and 40 mL/s in the artery was measured intraoperatively and confirmed with ultrasound). The patient had normal laboratory values for 9 months. However, at 1 year the blood flow was low and, on exploration, the shunt was patent but too narrow due to mechanical obstruction of tissue in the mesocolon. Once the tissue causing the compression was removed the graft dilated. We therefore used a second stem-cell populated vein graft to lengthen the previous graft. After this second operation, the portal pressure was reduced from 20 mm Hg to 13 mm Hg and blood flow was 25-40 cm/s in the portal vein. With restored portal circulation the patient has substantially improved physical and mental function and growth. The patient has no anti-endothelial cell antibodies and is receiving no immunosuppressive drugs. INTERPRETATION: An acellularised deceased donor vein graft recellularised with autologous stem cells can be considered for patients in need of vascular vein shunts without the need for immunosuppression. FUNDING: Swedish Government.

Abdominal pathology requiring laparotomy in very preterm infants is associated with need for surgical closure of patent ductus arteriosus.

BACKGROUND: Extensive intestinal surgery in very preterm infants and its influence on somatic growth is of major concern. There is little consensus as to which is the most appropriate surgical approach in extremely low-birth-weight infants with abdominal pathology. Laparotomy is currently advocated, but peritoneal drainage is also discussed. OBJECTIVE: To study laparotomy as surgical intervention in newborn infants with less than 28 gestational weeks and to investigate associated mortality and morbidity and its impact on short-term growth. STUDY DESIGN/METHODS: The study was a retrospective case-control study of newborn infants requiring laparotomy. All infants with gestational age less than 28 weeks who were subject to acute laparotomy in the neonatal period at Sahlgrenska University Hospital during a 5-year period (2003-2007) were included in the study (n = 20). The control group consisted of infants admitted to the unit with the same gestational age but not requiring laparotomy. Infants with severe malformations were excluded. SUMMARY AND CONCLUSION: Extensive abdominal surgery was feasible in very preterm infants. Necrotizing enterocolitis dominated the abdominal pathology requiring surgery. Patent ductus arteriosus requiring surgical closure occurred more often in the lapatotomy group and in those diagnosed as necrotizing enterocolitis. There was no impact on first year somatic growth.

Impact of spinal cord malformation on bladder function in children with anorectal malformations.

PURPOSE: Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients. MATERIAL AND METHODS: The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation. RESULTS: In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord. CONCLUSION: From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.