Anorectal malformation and. Neonates

AIMS: Neonatal surgical mortality continues to be high in developing countries. A better understanding of perioperative events and optimization of causative factors can help in achieving a favorable outcome. The present study was designed to evaluate the perioperative course of surgical neonates and find out potential factors contributing to postoperative mortality. METHODS: This prospective observational study enrolled neonates, undergoing emergency surgical procedures in a tertiary care institute...

Congenital perineal grove (CPG) is a rare anorectal anomaly; only 65 cases have been reported in literature. Two cases who were referred for evaluation of a lesion in the perineum are reported here. The patients were diagnosed clinically as CPG in neonatal period and were initially managed conservatively. Surgery was required in one case as the lesion was persistent and symptomatic. A high index of suspicion is required for diagnosis of CPG to avoid parental anxiety and unnecessary diagnostic work-up and surgery...

BACKGROUND: Studies on neurodevelopmental outcomes in individuals with congenital anomalies who undergo neonatal surgery are scarce and have reported contradictory findings based on small study groups. The congenital condition VACTERL association includes at least three malformations: vertebral anomalies, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal anomalies and limb deformities. Most of these patients undergo surgery during their first days of life...

INTRODUCTION: VACTERL is defined as 3 or more of the following congenital defects: vertebral, anorectal, cardiac, tracheoesophageal (TE), renal, and limb. The purpose of this study was to create an easy-to-use assessment tool to help providers counsel expecting families regarding the likelihood of additional anomalies and postnatal outcomes. METHODS: Employing the Kids' Inpatient Database (KID) from 2003-2016, neonates (<29 days old) with VACTERL were identified using ICD-9-CM and ICD-10-CM codes...

Rectal atresia is a rare cause of bowel obstruction in neonates with a normal-appearing anus. We present two different types of rectal atresia requiring different surgical management. Case one was a one-day-old term male with web-type rectal atresia diagnosed preoperatively with bedside obliteration of the web. Subsequent transanal web resection was performed. Case two was a one-day-old male born at 28 weeks weighing 980 g with significant cardiac defects including aortic atresia. The patient underwent initial colostomy creation and delayed rectal anastomosis via posterior sagittal anorectoplasty...

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered variants of unknown significance (VUS) which could provide insights into CPC manifestation. From whole exome sequencing (WES) performed earlier, the trio exomes were analyzed from those who were admitted to J.K. Lon Hospital, SMS Medical College, Jaipur, India, between 2011 and 2017...

In a female neonate with anorectal malformation (ARM), the diagnosis is usually simple. But when there are two openings in the introitus and absent anal opening at the normal site, the scenario poses a diagnostic challenge. Careful and detailed evaluation of anomaly is therefore necessary before planning definitive correction. Imperforate hymen, although is not commonly associated with ARM should always be kept in mind as a differential diagnosis and other vaginal anomalies like Mayer-Rokitansky-Küster-Hauser syndrome should be ruled out before definitive surgical correction...

CONTEXT: Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life. AIMS: To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute. SETTINGS AND DESIGN: It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications...

BACKGROUND: The training needed for doing obstetric ultrasounds is rarely reported. The aim of this study was to determine whether the training of the ultrasonographer influences the prenatal diagnostic certainty of some congenital malformations. METHODS: We conducted a retrospective evaluation of antepartum sonographic findings of newborn infants found ultimately to have a congenital anomaly in a tertiary level pediatric reference center. Data were collected on admission for consecutive patients at a tertiary-level pediatric reference center...

Introduction The diagnosis of anorectal malformations (ARMs) antenatally is rare, and most of these cases are diagnosed in the neonatal period. The defects range from easily treated minor anomalies with good prognosis to those that are difficult and complex. The associated anomalies in these malformations are important determinants for the prognosis and outcome of these cases. Material and methods  The present study was carried out in the department of pediatric surgery in a tertiary care institute...

INTRODUCTION AND IMPORTANCE: Diphallia is extremely rare urological anomaly with reported incidence of 1 in 5-6 million live births. It can present as complete or incomplete diphallia. In most of the cases it is associated with complex urological, gastrointestinal or anorectal malformations. CASE PRESENTATION: We report here case of a newborn who was presented to us at 1st day of life with diphallia and anorectal malformation. He had true diphallia with two separate uretheral orifices...

PURPOSE: The majority of patients with an anorectal malformation (ARM) have associated congenital anomalies. It is well established that all patients diagnosed with an ARM should undergo systematic screening, including renal, spinal, and cardiac imaging. This study aimed to evaluate the findings and completeness of screening, following local implementation of standardized protocols. METHODS: A retrospective cohort study was performed assessing all patients with an ARM managed at our tertiary pediatric surgical center, following a standardized protocol implementation for VACTERL screening (January 2016-December 2021)...

Congenital tracheal stenosis is a rare airway malformation. A high index of suspicion is fundamental. The authors report a case of congenital tracheal stenosis in a 13-month-old male infant, with a challenging diagnosis from the intensive care perspective. At birth, the patient presented an anorectal malformation with a recto-urethral fistula so a colostomy with mucous fistula was performed in the neonatal period. At the age of seven months, he was admitted due to a respiratory infection, treated with steroids and bronchodilators, and discharged after three days without any complications...

Anorectal malformations (ARMs) are a spectrum of congenital anomalies where there is abnormal development of the anus and rectum. With an incidence of 1:5000 live births and affecting both males and females, these anomalies vary in their appearance and presentation, lack features enabling antenatal detection and should be detected at birth by the examining midwife or within 72 hours through the newborn and infant physical examination (NIPE) screening programme. However, it is recognised that the diagnosis of ARMs can be missed or delayed leading to morbidity and mortality...

OBJECTIVES: To assess the spectrum of underlying pathologies, the intrauterine course and postnatal outcome of 46 fetuses with megacystis that underwent intrauterine vesico-amniotic shunting (VAS) with the Somatex® shunt in a single center. METHODS: Retrospective analysis of 46 fetuses with megacystis that underwent VAS either up to 14 + 0 weeks (early VAS), between 14 + 1 and 17 + 0 weeks (intermediate VAS) or after 17 + 0 weeks of gestation (late VAS) in a single tertiary referral center...

BACKGROUND: In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period. METHODS: A retrospective mono-center cohort study was performed...

INTRODUCTION: and importance: Foetal hydrocolpos and anorectal malformation are difficult to diagnose prenatally due to abundance of differential diagnoses. This case report presents the challenges of diagnosing such disorders. CASE PRESENTATION: A G3P2A0 woman came at 32 weeks of pregnancy with a referral for foetal ovarian cyst. Ultrasound revealed a singleton breech pregnancy, estimated foetal weight 3528 g. A septate abdominal cyst measuring 11.31 × 7...

BACKGROUND: Bowel obstruction is a common surgical emergency in newborns. One-fourth of neonates with obstruction suffer postoperative complications, with high mortality, especially in low-income countries. Factors attributed to mortality include prematurity, late presentation and associated multiple congenital anomalies. The prevalence and the predictors of mortality in our setting have not been well studied. We aimed to describe the early postoperative outcomes and to determine the predictors of mortality among neonates with bowel obstruction...

BACKGROUND: Although ICG-FA may be valuable in assessing anastomotic perfusion, reliable data on its use in pediatric gastrointestinal surgery is lacking. This systematic review analyzes whether ICG is useful for intestinal perfusion assessment in pediatric gastrointestinal surgery and safe to use in neonates. METHODS: Systematic searches of PubMed, EMBASE & MEDLINE and CENTRAL were performed (last conducted December 6, 2021). The main inclusion criteria were (1) use of ICG for intestinal perfusion assessment and (2) use of ICG in young infants...

BACKGROUND: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system. METHODS: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development...