ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers.

Introduction:  Being born with an anorectal malformation (ARM) can have profound and lifelong implications for patients and parents. Organization of care and communication between health care providers is an overlooked area of patient care. The European Reference Network eUROGEN for rare and complex urogenital conditions assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM.

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care.

Introduction:  Anorectal malformations (ARMs) are complex congenital anomalies of the anorectal region, oftentimes also affecting the genitourinary system. Although successful surgical correction can often be achieved in the neonatal period, many children will experience functional problems in the long term. The European Reference Network for rare and complex urogenital conditions (eUROGEN) assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM.

Mortality and neurodevelopmental outcome after invasive group B streptococcal infection in infants.

Aim: To assess case fatality rate (CFR), infant mortality, and long-term neurodevelopmental disorders (NDDs) after invasive group B streptococcal (GBS; Streptococcus agalactiae) infection in infants.

Method: Children born in Norway between 1996 and 2019 were included. Data on pregnancies/deliveries, GBS infection, NDDs, and causes of death were retrieved from five national registries.

Incidence of invasive Group B Streptococcal infection and the risk of infant death and cerebral palsy: a Norwegian Cohort Study.

Background: Group B Streptococcus (GBS) is the leading cause of invasive neonatal infection worldwide. In high-income countries mortality rates are 4-10%, and among survivors of GBS meningitis 30-50% have neurodevelopmental impairments. We hypothesized that invasive GBS infection was associated with increased risk of infant mortality and cerebral palsy (CP).

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. The aims of this study were to identify patients with monogenic disorders using a genetics-first approach, and to study whether variants in candidate genes are involved in the etiology of VACTERL or the individual features of VACTERL: Anorectal malformation (ARM) or esophageal atresia with or without trachea-esophageal fistula (EA/TEF).

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.

Prelabor rupture of membranes and the association with cerebral palsy in term born children: a national registry-based cohort study.

Background: Guidelines regarding management of prelabor rupture of membranes (PROM) at term vary between immediate induction and expectant management. A long interval between PROM and delivery increases the risk for perinatal infections. Severe perinatal infections are associated with excess risk for cerebral palsy (CP) and perinatal death.

The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula: An ARM-Net consortium study.

Background: The impact of perioperative care interventions on postreconstructive complications and short-term colorectal outcome in patients with anorectal malformation (ARM) type rectovestibular fistula is unknown.

Methods: An ARM-Net consortium multicenter retrospective cohort study was performed including 165 patients with a rectovestibular fistula. Patient characteristics, perioperative care interventions, timing of reconstruction, postreconstructive complications and the colorectal outcome at one year of follow-up were registered.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Background: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes.

The Challenges of the European Anorectal Malformations-Net Registry.

Anorectal malformations (ARM) have a low prevalence, patients need specialized surgical care, and in many cases, patients born with ARM even need life-long aftercare. Due to its low prevalence most patients are still treated in low-volume pediatric surgical centers without any adequate monitoring of the outcome. Data on prevalence, comparison of different surgical techniques, and prospective outcome measurements are still scarce and difficult to interpret.

Towards the perfect ARM center: the European Union's criteria for centers of expertise and their implementation in the member states. A report from the ARM-Net.

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.

Sexual function in adult patients with classic bladder exstrophy: A multicenter study.

Background: The bladder exstrophy-epispadias complex (BEEC) comprises a spectrum of congenital anomalies that represents the severe end of urorectal malformations, and has a profound impact on continence as well as sexual and renal functions.

Objective: The relation between severity of BEEC and its associated functional impairments, on one hand, and the resulting restrictions in quality of life and potential psychopathology determine the patients' outcome. It is important for improving further outcome to identify BEEC-related sources of distress in the long term.

Unexpected results of a nationwide, treatment-independent assessment of fecal incontinence in patients with anorectal anomalies.

Purpose: To determine the anorectal function in patients with anorectal malformations (ARM) in order to facilitate patient counseling and follow-up.

Methods: Data were collected by the German network for urorectal malformations (CURE-Net) according to the International Krickenbeck consensus. Questionnaires on bowel function and a defecation protocol were completed by the families/patients.