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Beckwith-Wiedemann syndrome (BWS) is a rare and heterogeneous genetic condition characterized by overgrowth, organomegaly, and increased vulnerability to embryonal tumors. This review investigates the complex genetic and epigenetic pathways underlying Beckwith-Wiedemann syndrome, focusing on the 11p15.5 region on chromosome 11. Abnormalities in the 11p15.5 area, such as imprinting control region dysregulation and CDKN1C gene mutations, contribute to disrupted growth regulation. This content also provides an overview of the incidence and pathophysiology of this syndrome. Clinical manifestations include macrosomia, macroglossia, and abdominal wall abnormalities. The increased risk of embryonal malignancies, such as Wilms tumor and hepatoblastoma, emphasizes the importance of diligent medical observation. Early diagnosis through genetic testing is crucial for tailored management and genetic counseling. This detailed discussion of Beckwith-Wiedemann syndrome sheds light on the molecular complexities of the condition, emphasizing the significance of genetic testing, early detection, and multidisciplinary management for affected infants.

BACKGROUND: Gastroschisis and omphalocele are the 2 most common congenital fetal abdominal wall defects. Both malformations are commonly associated with small-for-gestational-age neonates. However, the extent and causes of growth restriction remain controversial in both gastroschisis and omphalocele without associated malformations or aneuploidy. OBJECTIVE: This study aimed to examine the role of the placenta and the birthweight–to–placental weight ratio in fetuses with abdominal wall defects. STUDY DESIGN: This study included all cases of abdominal wall defects examined at our hospital between January 2001 and December 2020, retrieving the data from the hospital's software. Fetuses with any other combined congenital anomalies, known chromosomal abnormalities, or lost to follow-up were excluded. Overall, 28 singleton pregnancies with gastroschisis and 24 singleton pregnancies with omphalocele met the inclusion criteria. Patient characteristics and pregnancy outcomes were reviewed. The primary outcome was to investigate the association between birthweight and placental weight in pregnancies with abdominal wall defects as measured after delivery. To correct for gestational age and to compare total placental weights, ratios between the observed and expected birthweights for the given gestational age in singletons were calculated. The scaling exponent β was compared with the reference value of 0.75. Statistical analysis was performed using GraphPad Prism (version 8.2.1; GraphPad Software, San Diego, CA) and IBM SPSS Statistics. A P value of

Background: Gastroschisis (GS) and omphalocele (OC) are congenital abdominal wall defects, the main difference between is the direct exposure of intestinal loops in amniotic fluid in children with a GS. This leads to a reduced primary closure rate and a higher number of intraoperative abnormalities and post-operative complications. Aims and Objectives: We analysed abdominal wall defect patients over an 11-year period, aiming to assess the influence of meconium-contaminated amniotic fluid. This study has different objectives to show the consequence of functional outcome of abdominal wall defects (AWD) children in reliance to colour of amniotic fluid, to assess the effect of reduced bowel exposure time to meconium contaminated amniotic fluid on edematous inflammatory thickening of the bowel loops, to show an positively influence in the number of primary AWD closures, to demonstrate a reduced incidence of post-natal complications and to verify a better outcome of OC children because of failing exposure to amniotic fluid. Methods: A retrospective, observational case–control design was used to compare GS (n = 36) and OC (n = 18) children. Physical data, colour of amniotic fluid, pre- and perinatal problems, operative complications and surgical technique, post-operative complications, duration of intensive care unit (ICU) stay, mechanical ventilation, parenteral nutrition, commencement of oral feeding and total hospital stay were collected. Data were analysed with descriptive methods, t-test and non-parametric tests such as Wilcoxon and Kruskal–Wallis were performed in addition to the analysis of variance, including post hoc testing accepting a confidence interval of 95% (P < 0.05) by using IBM SPSS software, version 23 (IBM, Illinois, USA). Results: Rate of meconium-contaminated amniotic fluid is significantly higher in GS compared to OC (P < 0.001), delivery problems such as congenital infections are also significantly higher (P < 0.001), this yields in significantly more bowel loops anomalies and problems during surgery (P < 0.036) but had no significant influence on primary abdominal wall closures rate (P = 0.523). The post-surgical outcome of OC was significantly better as compared to GS. Within the GS, those with swollen intestines had significantly longer ICU stays (P = 0.045) due to extended mechanical ventilation (P = 0.007), parenteral nutrition (P = 0.011) and delayed initiation of oral feeding (P < 0.001. Same results were found for the duration of ICU stay (P = 0.008), mechanical ventilation (P = 0.006), parenteral nutrition (P = 0.011) and delayed initiation of oral feeding (P < 0.001) in secondary closures as compared to primary abdominal wall closures in the GS group. Conclusions: Worsen functional short-term outcome of GS children was directly addicted to meconium contamination of amniotic fluid due to swollen intestines and because of this more post-surgical problem including significantly extended hospital stays were observed.

The umbilicus is a site of numerous embryopathies involving vessels, urachus, mid gut herniation, anterior abdominal wall defects and congenital cysts. Owing to lack of awareness, umbilical cord hernia (HUC) is often misdiagnosed and underreported, with limited data in the literature. We report an isolated case of congenital HUC and perinatal transection of the sigmoid colon during cord ligature by a midwife in a local health center.A six-day old female neonate presented with discharge of fecal matter through the umbilicus. The clamped cord, became swollen and auto-amputated on day of life three, after which fecal discharge was from the stump was noted. On examination a visible bowel loop containing stool was seen in the umbilical cord. We proceeded with surgical intervention via a small umbilical incision, with findings of transection of the sigmoid colon, no peritoneal contamination, and primary anastomosis was performed. There was event free recovery postoperatively.HUC is poorly understood and often misdiagnosed as omphalocele minor. One should be cognizant of HUC when noting swelling at the base of the cord so as to avoid any inadvertent iatrogenic enterotomy by close umbilical clamping.

Jian Liu,1,2,* Jinfei Hou,1,2,* Shaokai Liu,1,2 Jialun Li,1,2 Muran Zhou,1,2 Jiaming Sun,1,2 Rongrong Wang1,2 1Department of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People’s Republic of China; 2Wuhan Clinical Research Center for Superficial Organ Reconstruction, Wuhan, 430022, People’s Republic of China*These authors contributed equally to this workCorrespondence: Rongrong Wang; Jiaming SunDepartment of Plastic Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, 430022, People’s Republic of ChinaTel +86-18995511113; Tel +86-13986246496Fax +86-027-85726240Email wangrongrong1988@126.com; 2004xh0801@hust.edu.cnBackground: Effective repair of full-thickness abdominal wall defects requires a patch with sufficient mechanical strength and anti-adhesion characteristics to avoid the formation of hernias and intra-abdominal complications such as intestinal obstruction and fistula. However, patches made from polymers or bio-derived materials may not meet these requirements and lack the bionic characteristics of the abdominal wall.Materials and Methods: In this study, we report a consecutive electrospun method for preparing a double-layer structured nanofiber membrane (GO-PCL/CS-PCL) using polycaprolactone (PCL), graphene oxide (GO) and chitosan (CS). To expand the bio-functions (angiogenesis/reducing reactive oxygen species) of the patch (GO-PCL/NAC-CS-PCL), N-acetylcysteine (NAC) was loaded for the repair of full-thickness abdominal wall defects (2× 1.5cm) in rat model.Results: The double-layered patch (GO-PCL/NAC-CS-PCL) showed excellent mechanical strength and biocompatibility. After 2 months, rats treated with the patch exhibited the desired repair effect with no hernia formation, less adhesion (adhesion score: 1.50± 0.50, P< 0.001) and more collagen deposition (percentage of collagen deposition: 34.94%± 3.31%, P< 0.001).Conclusion: The double-layered nanomembranes presented in this study have good anti-hernia and anti-adhesion effects, as well as improve the microenvironment in vivo. It, therefore, holds good prospects for the repair of abdominal wall defects and provides a promising key as a postoperative anti-adhesion agent.Keywords: abdominal wall defects, graphene oxide, chitosan, N-acetylcysteine, double layer, electrospinning

This research analysed early neonatal outcomes of complex and simple gastroschisis following planned elective preterm delivery in relation to prenatal ultrasound assessment of bowel conditions. A retrospective study of 61 neonates with prenatal gastroschisis diagnosis, birth, and management at a single tertiary centre from 2011 to 2021 showed a 96.72% survival rate with no intrauterine fatalities. Most cases (78.7%) were simple gastroschisis. Neonates with complex gastroschisis had longer hospital stays and time to full enteral feeding compared to those with simple gastroschisis—75.4 versus 35.1 days and 58.1 versus 24.1 days, respectively. A high concordance of 86.90% between the surgeon’s and perinatologist’s bowel condition assessments was achieved. The caesarean delivery protocol demonstrated safety, high survival rate, primary closure, and favourable outcomes compared to other reports. Prenatal ultrasound effectively evaluated bowel conditions and identified complex gastroschisis cases.

Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births. This anomaly involves diaphragmatic pericardial defects, lower sternal defect, intracardiac anomalies, ventral abdominal wall abnormality, and anterior diaphragmatic defect. Considering the number of presented anomalies, PC is classified into three groups of certain, probable, or incomplete pentalogy. Although the etiology of PC is unknown, it has been assumed that abnormalities in intra embryonic mesodermal differentiation formation and migration at around 14-18 days after conception are responsible for the anomalies observed in PC. The prenatal diagnosis of the PC can be made via prenatal two-dimensional or three-dimensional ultrasound. Case report: This case report investigated an Iranian 2-hour-old full-term neonate who was referred to Imam Reza Hospital, Kermanshah, Iran, due to respiratory distress and abdominal wall defect. The patient was finally diagnosed with a probable PC, although his prenatal investigations were considered normal. Conclusion: Although ultrasonography is a widely available tool for prenatal diagnosis of PC, as in our case, the absence of ectopic heart and omphalocele makes the prenatal diagnosis of PC via ultrasonography less possible. Keyword

Objective: Recently, achieving good cosmetic results for patients with gastroschisis has gained popularity, as since the visceral organs can be safely positioned into the abdominal cavity. We aimed to evaluate patient outcomes while focusing on the cosmetic results to contribute to the limited amount of data on this subject in the literature.Methods: From January 2005 to May 2018, patients operated on for gastroschisis in a single institution were evaluated retrospectively.Results: Twenty-two patients with gastroschisis were treated (10 females/12 males). The mean gestational age was 38.2±2.1 weeks. The mean birth weight was 2256.9±418.2 g. Eleven patients were diagnosed prenatally. Five patients had complex gastroschisis. Others presented with necrosis (n=3), perforation (n=3), volvulus (n=1) and jejunal atresia (n=1). Primary closure (n=16) and staged closure (n=6) were performed. Patients needed mechanical ventilation and total parenteral nutrition for 3.7±1.0 days and 24.3±9.7 days, respectively. Enteral feeding was started at 15.9±10.5 days. The duration of hospitalisation was 36.7±13.3 days. Three patients died from sepsis and multi-organ failure.Conclusion:We believe that performing appropriate gastroschisis surgery at the same hospital without transferring to another centre is the main factor in achieving a successful outcome. Good cosmetic results and visceral function were achieved in this study in 86.3% patients.

We report a very rare case of isolated thoracoschisis from the city of Campinas-São Paulo, Brazil. Early management in the NICU allowed gentle reduction of the viscera back to the abdominal cavity with no signs of ischemia or respiratory distress. Complete repair was performed four days later in the operating room, under general anesthesia, using a biocompatible collagen/polyester mesh. Postoperative course was uneventful, the child was discharged from hospital on the 24th postoperative day and outpatient follow-up shows a normal developing child. Clinical and surgical aspects of this rare malformation are discussed.

Application of synthetic or biological meshes is the main therapy for the repair and reconstruction of abdominal wall defects, a common disease in surgery. Currently, no ideal materials are available, and there is an urgent need to find appropriate ones to satisfy clinical needs. Electrospun scaffolds have drawn attention in soft tissue reconstruction. In this study, we developed a novel method to fabricate a composite electrospun scaffold using a thermoresponsive hydrogel, poly (N-isopropylacrylamide)-block-poly (ethylene glycol), and a biodegradable polymer, polylactic acid (PLA). This scaffold provided not only a high surface area/volume ratio and a three-dimensional fibrous matrix but also high biocompatibility and sufficient mechanical strength, and could simulate the native extracellular matrix and accelerate cell adhesion and proliferation. Furthermore, rat adipose-derived stem cells (ADSCs) were seeded in the composite electrospun scaffold to enhance the defect repair and regeneration by directionally inducing ADSCs into endothelial cells. In addition, we found early vascularization in the process was regulated by the hypoxia inducible factor-1α (HIF-1α)/vascular endothelial growth factor (VEGF) pathway. In our study, overexpression of HIF-1α/VEGF in ADSCs using a lentivirus system promoted early vascularization in the electrospun scaffolds. Overall, we expect our composite biomimetic scaffold method will be applicable and useful in abdominal wall defect regeneration and repair in the future.

Abstract Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.

Ruptured giant omphaloceles (GO) and gastroschisis with total liver herniation are rare cases of exceptionally large abdominal wall defects. Many of these children have lethal outcome. The surgical and postsurgical management are complex. We report on two cases treated with staged surgical repair using a wound retractor as a silo. With this technique, the liver and intestines could be reduced into the abdomen with secondary closure of the abdominal cavity within the first 1 to 2 weeks of life.

Abstract Background Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated. Methods Given the tight relationship with BWS, we hypothesized that the isolated form of the omphalocele could belong to the heterogeneous spectrum of the BWS associated features, representing an endophenotype with a clear genetic connection. We therefore investigated genetic and epigenetic changes affecting BWS imprinted locus at 11p15.5 imprinted region, focusing in particular on the KCNQ1OT1:TSS DMR. Results We studied 21 cases of isolated omphalocele detected during pregnancy or at birth and identified the following rare maternally inherited variants: i) the non-coding variant G > A at nucleotide 687 (NR_002728.3) at KCNQ1OT1:TSS-DMR, which alters the methylation pattern of the imprinted allele, in one patient; ii) the deletion c.624-629delGGCCCC at exon 1 of CDKN1C, with unknown clinical significance, in two unrelated cases. Conclusions Taken together, these findings suggest that KCNQ1OT1:TSS-DMR could be a susceptibility locus for the isolated omphalocele.

Amniotic band syndrome is a unique condition in which amnion a normal structure causes complications. A case of second gravid, obese who is a known diabetic came to OPD at 13 weeks pregnancy for regular antenatal check up. A routine ultrasonogram was advised in which multiple anomalies were noted and the diagnosis of amniotic band syndrome was made. The parents were counseled for medical termination of pregnancy and after obtaining the consent termination were performed and the parents were asked to postpone the next pregnancy for minimum 6 months. This anomaly as seen in this patient could be due to risk factors like diabetes and obesity.

Background : Abdominal wall defect presents a great challenge when it is large, ruptured, or associated with other anomalies. Objective : To review the challenges and outcome of management of anterior abdominal wall defects (AAWD). Materials and Methods : A retrospective review of omphalocele and gastroschisis managed over 8 years at our institution. Results : Omphalocele (n=49) and gastroschisis (n=7) constituted 2.4% of total admission. The median age was 23.5 hours, with male-female ratio of 1:1.1. Term infants were 91.7% and more than 75% weighed above 2.5 kg. The mean maternal age was 28.5±5.87 years and mean parity was 3.1±2.0, with P values of 0.318 and 0.768, respectively. More than 92.9% of infants were out-born, 46 pregnancies (82.1%) were booked, and 51 (91.1%) had at least one ultrasound scan, but only 1 (1.8%) was diagnosed with gastroschisis. Ruptured omphalocele were 11 (6 major, 5 minor) in number, 3 of which presented with enterocutaneous fistula, and 3 (6.1%) were syndromic omphalocele. Positive blood culture confirmed septicaemia in 21 cases (37.5%). Surgical repair was done in 35 cases (62.5%), 44.6% as emergency, and 17.9% as elective. Non-operative management was done in 21 patients (37.5%) and 5 (8.9%) were discharged against medical advice. Median length of hospital stay was 10 days (mean, 15.98±14.38). Postoperative complication rate was 32.1% and overall mortality was 30.4%, with the highest case fatality among gastroschisis (57.1%) and omphalocele major (32.1%). Conclusions: There were large numbers of out-born infants due to poor prenatal diagnosis in spite of high instances of antenatal ultrasound scan. Many patients presented with complications that resulted in poor outcome.

Background: Omphalocele is a midline abdominal hernia that conditions important rates of mortality and morbidity. Infants born with omphalocele present an increased risk of having structural and chromosomal anomalies or syndromes. It is a defect that requires surgical treatment with multiple postoperative comorbidities. Purpose: To identify and characterize the cases of omphalocele of a Level III Neonatal Intensive Care Unit and analyse the impact of clinical and demographic characteristics of both infant and mother in patients’ outcome. Methods: This is a retrospective study based on the record analysis of infants that have been hospitalized in the Neonatal Intensive Care Unit of “Centro Hospitalar de São João” with the diagnosis of omphalocele between 2003 and 2012. Sixteen patients fulfilled these criteria. For each one, data about pregnancy, maternal history, prenatal diagnosis, delivery, newborn, treatment and follow-up was collected and analysed. Results: The mean birth weight was 2,761 grams and the mean gestational age was 37 weeks. Prenatal diagnosis was performed in 12 (75%) of the cases; mean gestational week of diagnosis was lower in patients that died. Overall, 50% (80% of deceased patients) had large defects. Major malformations were seen in 25% of cases most often in deceased infants. Low 1st minute Apgar score, need of inotropic support, more days of parenteral nutrition and lower birth weight had statistically significant impact on mortality. After surgical correction 31.3% died, 18.8% had a residual hernia and 12.5% a gastroesophageal reflux, respectively. Conclusion: The mortality rates of patients with the diagnosis of omphalocele are not negligible because of associated anomalies or postoperative complications. We have been able to correlate some clinical features with mortality and found out that patients who survive can have other comorbidities mainly in the first years of life. However the majority of infants are expected to have a good long-term development and quality of life.

The rupture of an omphalocele sac during birth is a well recognized entity. The associated lesions due to vascular compromise can result in necrosis of the bowel with perforation. Spontaneous bowel perforation in an omphalocele at birth is not reported in the literature. We describe a case with bowel perforation at the fundus of an omphalocele in a newborn.

Introducción: Los defectos congénitos constituyen una causa importante de mortalidad infantil y discapacidad. Las cardiopatías y los defectos del tubo neural y de la pared abdominal son de los más frecuentes. Objetivo: sistematizar los referentes teóricos sobre la embriogénesis y la epidemiología de estas anomalías del desarrollo, que contribuyan a la capacitación de médicos y estudiantes como promotores de salud. Materiales y Métodos: se realizó la revisión de 32 artículos científicos, búsqueda en la Biblioteca Virtual de Salud de Infomed, en las bases de datos Medline Complete, Pubmed Central, Clinical Key, Scielo regional y Scielo Cuba. La búsqueda se realizó entre los meses de octubre de 2014 y febrero de 2015, y quedó limitada a los últimos 8 años. Resultados: los defectos cardiacos se producen por fallas en la embriogénesis, entre la quinta y décima semanas de embarazo; los del tubo neural en la tercera y cuarta semana de embarazo y los de pared anterior entre la cuarta y la duodécima semana de embarazo. La etiología obedece a factores genéticos, ambientales y multifactoriales, y el riesgo de recurrencia depende de la causa. Existen tres niveles de prevención: preconcepcional, prenatal y postnatal. Conclusiones: el más importante es el preconcepcional, pues es el más eficaz, humano y económico.