Use of a new vertical traction device for early traction-assisted staged closure of congenital abdominal wall defects: a prospective series of 16 patients.

PURPOSE: Abdominal wall closure in patients with giant omphalocele (GOC) and complicated gastroschisis (GS) remains to be a surgical challenge. To facilitate an early complete abdominal wall closure, we investigated the combination of a staged closure technique with continuous traction to the abdominal wall using a newly designed vertical traction device for newborns. METHODS: Four tertiary pediatric surgery departments participated in the study between 04/2022 and 11/2023. In case primary organ reduction and abdominal wall closure were not amenable, patients underwent a traction-assisted abdominal wall closure applying fasciotens®Pediatric. Outcome parameters were time to closure, surgical complications, infections, and hernia formation. RESULTS: Ten patients with GOC and 6 patients with GS were included. Complete fascial closure was achieved after a median time of 7 days (range 4-22) in GOC and 5 days (range 4-11) in GS. There were two cases of tear-outs of traction sutures and one skin suture line dehiscence after fascial closure. No surgical site infection or signs of abdominal compartment syndrome were seen. No ventral or umbilical hernia occurred after a median follow-up of 12 months (range 4-22). CONCLUSION: Traction-assisted staged closure using fasciotens®Pediatric enabled an early tension-less fascial closure in GOC and GS in the newborn period.

Managing giant omphalocele: A systematic review of surgical techniques and outcomes.

AIM: We analysed closure techniques in the treatment of giant omphalocele. A challenging pathology where there lacks consensus. METHODS: Cochrane, MEDLINE and EMBASE were searched between 1 January 1992 and 31 December 2022 using terms and variations: omphalocele, exomphalos, giant, closure and outcome. Papers were selected using Preferred Reporting Items for Systematic review and Meta-Analyses 2020 criteria. Data collected included demographics, timing and technique of surgical repair, morbidity and mortality. RESULTS: We identified 342 papers; 34 met inclusion criteria with a total 356 neonates. Initial non-operative management was described in 26 papers (14 dressings, eight silo, four serial sac-ligation). Operative techniques by paper were as follows: Early closure: nine primary suture closure without patch, two primary closure with patch and four mixed methods. Delayed closure: five simple, four-component separation technique, four tissue expanders, one Botox/pneumoperitoneum and two with patch. Median number of procedures was two (1-6) in the early group versus three (1-4) in the delayed. The most favourable was early primary closure with biological patch. The most unfavourable was delayed closure with patch. Cumulative reported mortality remained high, mostly due to non-surgical causes. CONCLUSION: Definitions of giant omphalocele in the literature were heterogeneous with a variety of management approaches described.

Two Congenital Gastrointestinal Malformations: A Case of Omphalocele and Meckel's Diverticulum in a Neonate.

Omphalocele is a malformation of the abdominal wall varying in size and located at the base of the umbilical cord. Meckel's diverticulum is the most common congenital malformation of the gastrointestinal tract with an increased prevalence in newborns with congenital malformations of the umbilicus and gastrointestinal tract. The association between Meckel's diverticulum and omphalocele has been described in rare cases. We present the case of a newborn diagnosed with both entities.

Clinical characteristics and outcome of omphalocele and gastroschisis: a 20-year multicenter regional experience.

Omphalocele and gastroschisis are the most common types of abdominal wall defects. Comprehensive local experience helps parents to make decisions on the pregnancy and foresee the disease journey. A retrospective review of abdominal wall defect patients in all three pediatric surgical centers in Hong Kong between January 2003 and February 2023 was conducted. All patients consecutively diagnosed with omphalocele and gastroschisis were included, excluding other forms. Data of demographics and short- and long-term outcome parameters were collected. A total of 99 cases were reviewed and 85 patients met the inclusion criteria. Diagnoses include omphalocele major (n = 49, 57.6%), omphalocele minor (n = 22, 25.9%) and gastroschisis (n = 14, 16.5%), with mean gestational age 37 weeks (SD 2.2) and birth weight 2.7 kg (SD 0.6). Omphalocele is most commonly associated with cardiovascular (n = 28, 39.4%) and chromosomal defects (n = 11, 15.5%). Surgical procedures including primary repair (n = 38, 53.5%), staged closure (n = 30, 42.3%) with average 8.6 days (SD 4.7) of silo reduction, and conservative management (n = 3, 4.2%) were performed. The mortality rate was 14.1% (n = 10) and the complication rate was 36.6% (n = 26). The majority of patients had normal intellectual development (92.5%) and growth (79.2%) on the latest follow-up. For gastroschisis, one patient (7.1%) had intestinal atresia. Surgical procedures included primary repair (n = 9, 64.3%) and staged closure (n = 5, 35.7%) with average 8 days (SD 3.5) of silo reduction. Complication rate was 21.4% (n = 3), with one mortality (7.1%). All patients had normal intellectual development and growth. The mean follow-up time of this series is 76.9 months (SD 62.9). Most abdominal wall defects in our series were managed surgically with a good overall survival rate and long-term outcome. This information is essential during antenatal and postnatal counseling for parents.

Frequency of gastroschisis and omphalocele and possible influence of maternal folic acid supplementation. A narrative review.

There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.

Prune belly syndrome: A rare case report.

Key Clinical Message: In babies presenting with an omphalocele, other components of the prune belly syndrome should be scrutinized for early diagnosis and timely intervention. Abstract: A male baby on his 13th day of life presented with an omphalocele. On evaluation, he had congenital absence of left kidney and bilateral cryptorchidism. Therefore, he was diagnosed with prune belly syndrome. He responded well to abdminoplasty, and wait and watch policy was applied for his cryptorchidism.

Ovary and Fallopian Tube Displacement in an Adolescent Patient with a History of Omphalocele.

Omphalocele is an abnormality where fetal abdominal organs protrude through the abdominal wall. We report a case of a 13-year-old female with a history of omphalocele repair who presented with acute periumbilical pain, nausea, and vomiting. Computed Tomography scan showed a para-ovarian cyst and mild dilation of the small bowel. During laparoscopy, the right ovary and fallopian tube were detached from the uterus and located behind the cecum. Despite this displacement, the ovary appeared to have retained functionality with intact blood supply. Authors hypothesize that surgical repair led to pelvic adhesion that caused torsion and avulsion of the fallopian tube and utero-ovarian ligament that led to the displacement. This anatomical change should be taken into consideration in surgical patients with history of omphalocele repair.

Beckwith-Wiedemann Syndrome With Severe Relapsing Hypoglycemia After the Neonatal Period: A Case Report and a Literature Review.

Beckwith-Wiedemann syndrome (BWS) is a rare genomic imprinting disorder that affects multiple systems. Major features can manifest as large birth weight, anterior abdominal wall defects, macroglossia, hyperinsulinism, organomegaly hemihypertrophy, and renal abnormalities. Characteristic facies manifested as midface hypoplasia, infraorbital creases, facial nevus simplex, and anterior linear ear lobe creases/posterior helical ear pits, with a predisposition to tumor development. This case report describes a Saudi infant born at 38+5 weeks gestation via elective cesarean section to a 33-year-old G3P2+0 mother, with a family history of type 1 diabetes and Down syndrome. Prenatal ultrasound revealed an anterior abdominal wall defect. Postnatally, the infant exhibited macrosomia, macroglossia, and omphalocele. Genetic testing confirmed paternal disomy of the imprinted region in 11p15.5. The infant underwent successful omphalocele repair but experienced respiratory distress, and seizures on the third day of life. Intubation, ventilation, and antiepileptic treatment were initiated. Subsequent investigations revealed right upper lobe collapse, neonatal seizures on electroencephalogram (EEG), and thin corpus callosum on magnetic resonance imaging (MRI). Feeding difficulties led to elective partial glossectomy at two months of age. During her hospital stay two days post surgery, the infant developed persistent hypoglycemia requiring high glucose infusion rates. Extensive endocrine evaluation revealed high insulin and cortisol levels. Subcutaneous octreotide was administered with minimal response. After 15 days of careful glucose tapering, the infant's blood glucose stabilized, reaching feeding targets. The patient was discharged with follow-up appointments. This comprehensive case highlights the complexity of managing severe relapsing hypoglycemia in an infant with BWS.

A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.

INTRODUCTION: Beckwith-Wiedemann syndrome (BWS) manifests distinctive features, such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a case of BWS in an extremely low birth weight infant diagnosed at three months after birth because of the intensive care for low birth weight. PRESENTATION OF CASE: A female infant was delivered at 24 weeks and 6 days of gestation with a weight of 845 g. After birth, significant small intestinal intra-umbilical prolapse was observed, and abdominal wall closure using a sutureless method was performed on day zero. Careful neonatal management was performed; however, an episode of bloody stools led to a diagnosis of intestinal volvulus due to intestinal malrotation. At 119 days of age, the Ladd procedure was performed. Notably, during anaesthesia induction, features suggestive of BWS were observed, leading to its diagnosis. DISCUSSION: Early diagnosis of BWS is vital because of its association with tumors. However, because she was an extremely low birth weight infant who required oral intubation and supine management for respiratory control, nevus flammeus and macroglossia were not observed. Therefore, BWS was not diagnosed for approximately three months after birth. It is important to recognize that omphalocele in extremely low birth weight infants is a risk factor for delayed diagnosis of BWS. CONCLUSION: Timely diagnosis of BWS is critical because of its association with tumors and varied clinical presentations. Early screening, especially for tumors, and awareness among surgical practitioners can aid in timely interventions and improved patient outcomes.

Surgical Management of Omphalocele With Concurrent Ileal Atresia: A Case Report.

Omphalocele, a congenital anomaly characterized by the protrusion of abdominal viscera through the umbilical ring, often presents challenges in surgical management, especially when concurrent with other anomalies such as intestinal atresia. We presented a case of a female infant weighing 2.6 kg born with omphalocele and concurrent ileal atresia. The child was successfully managed through prompt surgical intervention. Preoperative investigations revealed signs suggestive of intestinal obstruction, necessitating immediate surgical exploration. Intraoperatively, meticulous reduction of the omphalocele sac and resection of the atretic segment were performed. Postoperative care in the neonatal intensive care unit ensured optimal recovery. This case underscored the importance of timely intervention and multidisciplinary collaboration in managing complex congenital anomalies in neonates.

Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study.

PURPOSE: This retrospective study aims to describe anatomical parameters of omphaloceles and to analyze their association with anatomical, genetic, or syndromic malformations. METHODS: Cases were selected from digital records of two university centers, a certified regional registry and personal records. Patients from 1998 to 2018 with omphalocele and live birth (LB), termination of pregnancy due to fetal anomaly (TOPFA) and fetal death (FD) were included. Cases born outside Western Switzerland and/or with upper or lower coelosomy were excluded. RESULTS: We analyzed 162 cases with the following distribution: 57 (35%) LB, 91 (56%) TOPFA and 14 (9%) FD. TOPFA was significantly more frequently performed in cases with non-isolated omphalocele, i.e., omphaloceles with associated major malformations (especially cardiovascular and genitourinary), genetic/chromosomal anomalies, or syndromes. For LB, associated anatomical malformations, genetic or chromosomal anomalies were not significantly associated with the size of the omphalocele or the liver involvement. CONCLUSIONS: The proportion of cases resulting in TOPFA was higher among fetuses with major malformations, genetic or chromosomal anomalies. Despite the large size of this cohort, and in contrary to previous publications, the size of the omphalocele and/or liver involvement does not allow for conclusions regarding the presence or number of associated malformations, genetic or chromosomal anomalies.

Surgical technique for epigastric incisional hernia after omphalocele repair: bilateral modified composite flaps using the upper rectus abdominis muscle and the vertically inverted flap of the lower rectus abdominis fascia.

We present a patient who developed an incisional hernia, from epigastrium to umbilicus, after omphalocele repair. The hernia gradually enlarged to a 10 cm × 10 cm defect with significant rectus abdominis muscle diastasis at the costal arch attachment point. At 6 years of age, the abdominal wall defect in the umbilical region was closed using the components separation technique. For the muscle defect of the epigastric region, composite flaps were made by suturing together the flap of the upper rectus abdominis muscle, after peeling it away from the costal arch attachment point, and the vertically inverted flap of the lower rectus abdominis fascia, created with a U-shaped incision. The composite flaps from each side were reversed in the midline to bring them closer and then sutured; the abdominal wall and skin were then closed. Five months after surgery, the patient had no recurrent incisional hernia and no wound complications.

Limb-body wall complex: Literature review and case report.

INTRODUCTION: Body wall anomalies comprise a wide range of malformations. Limb-Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process. CASE REPORT: We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb. DISCUSSION AND CONCLUSIONS: LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.

Understanding and managing a case of the omphalocele-exstrophy-imperforate anus-spinal defect complex.

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal, neural, and genitourinary system defects. We present a case report of a neonate with OEIS born by vertex spontaneous delivery to non-consanguineous parents. The major presenting defect was exstrophy of the cecum lying between two exstrophied halves of the bladder, an imperforate anus and spina bifida myelomeningocele. Explorative laparotomy revealed a duplex kidney system, attachment of the terminal ileum and cecum to the exstrophy, and a sausage-like atretic large bowel. Malrotation was also noted. Ladd's bands were released followed by ileostomy and ureterostomy. Patient was stable post-operatively and in the incubator on room air. OEIS remains a challenging anomaly that requires optimal treatment to facilitate the quality of life. With appropriate surgical intervention, the functional and social treatment goals for this unusual congenital defect can be met.

LUMBAR syndrome-OEIS complex overlap: A case series and review.

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.

[Gastroschisis and omphalocele: Incidence and outcome].

INTRODUCTION: Gastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated anomalies and the course of these diseases in Iceland. MATERIAL AND METHODS: The study was retrospective. The population was all newborns who were admitted to the NICU of Children's Hospital Iceland due to gastroschisis or omphalocele in 1991-2020. Furthermore, all fetuses diagnosed prenatally or post mortem where the pregnancy ended in spontaneous or induced abortion, were included. RESULTS: During the study period, 54 infants were born with gastroschisis and five with omphalocele. The incidence of gastroschisis was 4.11 and omphalocele 0,38/10,000 births. There was no significant change in the incidence of the diseases during the study period. In addition, five fetuses were diagnosed with gastroschisis and 31 with omphalocele where the pregnancy was terminated. In addition to gastroschisis in the live born infants and fetuses the most common associated anomalies were in the gastrointestinal or urinary tract but in infants and fetuses with omphalocele anomalies of the cardiac, central nervous or skeletal systems were the most common. Sixteen fetuses diagnosed with omphalocele had trisomy 18. Mothers aged 16-20 were more likely to give birth to an infant with gastroschisis than older mothers (p< 0.001). Primary closure was successful in 86% of the infants. Those reached full feedings significantly earlier and were discharged earlier. Overall survival rate was 95%. Three children were still receiving parenteral nutrition at discharge due to short bowel syndrome. CONCLUSIONS: The incidence of gastroschisis in Iceland is in accordance with studies in other countries but but the incidence of omphalocele is lower, which can be partly explained by spontaneous or induced abortions. Other anomalies associated with omphalocele are more severe than those associated with gastroschisis. Primary closure was associated with more benign course. Children with gastroschisis may need prolonged parenteral nutrition due to shortening of their intestines.

Associations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011.

OBJECTIVE: Previous studies of alcohol consumption during pregnancy and omphalocele have produced mixed results. We updated an earlier analysis of National Birth Defects Prevention Study (NBDPS) data, adding six years of participants, to examine associations between maternal alcohol consumption and omphalocele. METHODS: NBDPS was a multi-site, population-based case-control study in the United States. Cases were identified from birth defect surveillance programs in 10 states; controls were liveborn infants without a birth defect randomly selected from the same catchment areas. Mothers self-reported alcohol consumption during the periconceptional period (one month before through the third gestational month) via telephone interview. Our study included mothers of 410 omphalocele cases and 11,219 controls with estimated dates of delivery (EDDs) during 1997-2011. We used logistic regression to estimate adjusted odds ratios (AORs) and 95% confidence intervals (CIs) for periconceptional alcohol consumption and omphalocele. We performed a probabilistic bias analysis to evaluate the impact of alcohol exposure misclassification on our results. RESULTS: Overall, 44% of case and 38% of control mothers reported periconceptional alcohol consumption; 22% and 17%, respectively, reported binge drinking. Any maternal periconceptional alcohol consumption was associated with modestly increased odds of omphalocele (AOR 1.35, 95% CI 1.09, 1.68), as was binge drinking (AOR 1.47, 95% CI 1.08, 2.01). Our bias analysis yielded estimates further from the null. CONCLUSIONS: We observed modest associations between maternal periconceptional alcohol consumption and omphalocele. Based on our bias analysis, studies of alcohol and birth defects not accounting for exposure misclassification may underestimate associations.

The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.

The pathophysiology of Patau's syndrome involves the triplication of chromosomes, leading to multiple comorbidities. An omphalocele is characterized by a protrusion of abdominal contents from the base of the umbilical cord through the peritoneum. An omphalomesenteric duct remnant occurs when there is a failure of duct closure that results in a diverticulum extending from the fetal midgut to the yolk sac. While congenital defects rarely occur simultaneously in patients with Patau's syndrome, this case report describes a newborn with Patau syndrome who presented with both an omphalocele and an omphalomesenteric duct remnant. The newborn exhibited various congenital abnormalities such as coloboma, microphthalmia, broad nasal bridge, cleft lip, cleft palate, low-set ears, systolic murmur, omphalocele, intestinal umbilical fistula (omphalomesenteric continuous vitelointestinal duct remnant), polydactyly, rocker-bottom feet, left-sided clubbed foot, and ruptured myelomeningocele. Imaging revealed additional complications such as a large patent ductus arteriosus, hypoplastic distal arch, markedly dilated right atrium and left ventricle, and cerebellar hypoplasia. Chromosomal analysis confirmed the diagnosis of Patau's syndrome. Given the untreatable medical condition, the patient was placed under "Do Not Resuscitate," and palliative care was initiated. The simultaneous appearance of an omphalocele and an omphalomesenteric continuous vitelointestinal duct is rare, and surgical intervention is the standard of care if the patient is deemed suitable for surgery. However, in cases where surgery is not feasible, palliative care is initiated. Regardless of the outcome, genetic counseling is essential and should include a discussion on paternal autonomy, understanding the disorder, suggesting alternative management methods, and making crucial decisions concerning future family care and planning.