Search

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. [ABSTRACT FROM AUTHOR]

Thyroid hormone (TH) is essential for growth and development, yet its specific role during embryogenesis remains incompletely understood. This study investigates the impact of TH deficiency, induced by thiourea, a known inhibitor of thyroid peroxidase (TPO), on the development of domestic chicks. Thiourea was administered before thyroid gland formation, and its presence in treated embryos was confirmed through liquid chromatography‐mass spectrometry. In silico docking revealed a strong interaction between thiourea and the CCP‐like domain of TPO, which was corroborated by TPO activity assays showing reduced enzyme function. This reduction in enzyme activity led to lower embryonic TH levels and increased thyroid‐stimulating hormone (TSH) secretion. Morphological analysis of newly hatched chicks revealed significant structural anomalies, particularly in lateral plate mesoderm‐derived structures, including omphalocele, limb deformities, anophthalmia and craniofacial defects. Alcian blue and Alizarin red staining demonstrated reduced ossification in ribs and forelimbs, while histological analysis showed incomplete abdominal wall closure and abnormal vertebral column development. Haematological profiling of TH‐deficient newly hatched chicks revealed significantly lower blood cell counts, highlighting TH's critical role in haematopoiesis. These findings emphasise the multifaceted role of TH in embryonic development, with potential implications for understanding congenital hypothyroidism and its developmental impacts, especially in regions with limited healthcare access. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical features and perinatal outcomes of antenatally diagnosed fetuses with omphalocele and gastroschisis. Material and Methods: This was a retrospective, single-center, cohort study of prenatally diagnosed fetuses with omphalocele and gastroschisis followed-up and delivered at a university hospital. Demographic, pregnancy, birth and perinatal outcomes were compared between gastroschisis and omphalocele. Results: A total of 75 fetuses with omphalocele and 21 cases with gastroschisis were evaluated. The mean maternal age of women carrying a fetus with omphalocele was significantly higher than the women with gastroschisis (p=0.001). Associated structural anomalies were found in 53.3% and 4.7% of fetuses with omphalocele and gastroschisis, respectively (p<0.001). The rate of chromosomal anomaly was 8.3% in pregnancies with omphalocele. In liveborn pregnancies, the mean gestational age at delivery and birth weight did not differ between the study groups. Time to postoperative oral intake, duration of parenteral nutrition and length of hospital stay were significantly longer in babies with gastroschisis than omphalocele (p<0.01). Rates of termination, intrauterine, neonatal and infant death of fetuses with omphalocele were 25.3%, 6.7%, 10.7% and 2.7% respectively. Time to postoperative oral intake, duration of parenteral nutrition and duration of hospitalization were significantly longer in babies with complex compared to simple gastroschisis (p<0.01). Survival rates were 95.2%, 82.9% and 20% in fetuses with gastroschisis, isolated and non-isolated omphalocele, respectively. Conclusion: Associated structural and chromosomal anomalies were significantly more common in fetuses with omphalocele compared to those with gastroschisis. Prognosis of fetuses with omphalocele depended on the associated structural and chromosomal anomalies, whereas bowel compromise was the main determining factor in gastroschisis. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births. Omphalocele contains herniated abdominal organs and is classified in small and giant based on the size of the defect. Omphalocele is associated with several syndromes or structural anomalies. We reported a case of giant omphalocele of 6 cm with right lung agenesis with tracheal and right bronchial hypoplasia. Laryngeal mask stabilized the newborn allowing endotracheal intubation. Due to serious malformations, the newborn died after few hours of life for cardio-respiratory arrest. Early and accurate prenatal diagnosis allows a better intervention strategies in delivery room, improving the chances of survival and reducing complications for infants with omphalocele.

Background: Evaluation of quality of life (QoL) in paediatric surgical patients has not always received enough attention in the past. Our aim was to follow up patients with abdominal wall defects for a decade and (1) to analyse children’s view on QoL and to analyse parent’s view on QoL, (2) to evaluate satisfaction and psychological problems, (3) to assess present complaints including subjective aspects such as food intake, reduced appetite, pain in scar area and general abdominal pain and (4) verifiable clinical symptoms assessed through a physical examination and ultrasound. It was hypothesised that QoL would differ from gastroschisis (GS) and omphalocele (OC) children depending on the type of abdominal wall defect. Materials and Methods: A retrospective case–control design was used to compare children with GS (n = 36) and OC (n = 18). A clinical examination, including abdominal inspection, palpation and auscultation of bowel sounds with abdominal ultrasound, was offered, combined with a structured interview and specific QoL questionnaire (KINDL®). The focus was on QoL, child development, present complaints and satisfaction with the cosmetic outcome. Results: During clinical examinations with ultrasound, GS children were significantly more likely to have bowel loops stuck at the scar area (P = 0.008) with bowel malrotation and abnormal appendix position, compared to OC children (P = 0.037). They were significantly more likely to report irregular stools (P = 0.02) but were satisfied with the cosmetic outcome of the abdominal skin scar in 81% of cases. The KINDL® evaluation showed in the dimensions of QoL, namely ‘body awareness’, ‘mental health’, ‘self-esteem’, ‘family’, ‘friends’ and ‘school’, that there were no significant differences to healthy children. OC/GS parents were satisfied with their children’s physical development and QoL, noting no limitations in normal daily activities. Parents of OC children reported suffering from OC/GS-associated problems (P = 0.028) at the time point of interview. Conclusion: Subjective QoL did not differ significantly between OC and GS children. The satisfaction with the cosmetic outcome of the abdominal skin scar was good. On ultrasound examination, adherent bowel loops and bowel malrotation with resulting stool irregularities affect GS children. OC children’s parents reported suffering from OC/OS-associated problems, and all parents need to be educated about the symptoms of recurrent sub-ileus events or atypical appendicitis.

Congenital diaphragmatic hernia (CDH) is a relatively common and genetically heterogeneous structural birth defect associated with high mortality and morbidity. We describe eight unrelated families with an X-linked condition characterized by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. Using linkage analysis and exome or genome sequencing, we found that missense variants in plastin 3 (PLS3), a gene encoding an actin bundling protein, co-segregate with disease in all families. Loss-of-function variants in PLS3 have been previously associated with X-linked osteoporosis (MIM: 300910), so we used in silico protein modeling and a mouse model to address these seemingly disparate clinical phenotypes. The missense variants in individuals with CDH are located within the actin-binding domains of the protein but are not predicted to affect protein structure, whereas the variants in individuals with osteoporosis are predicted to result in loss of function. A mouse knockin model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Both the mouse model and one adult human male with a CDH-associated PLS3 variant were observed to have increased rather than decreased bone mineral density. Together, these clinical and functional data in humans and mice reveal that specific missense variants affecting the actin-binding domains of PLS3 might have a gain-of-function effect and cause a Mendelian congenital disorder.

Omphalocele is a congenital anomaly characterized by a structural defect in the abdominal wall that leads to the protrusion of the intestines or other abdominal organs covered by a protective membrane. Approximately 20%-50% of omphalocele cases are associated with trisomy 13, 18, and 21 and result in fetal death. Prenatal diagnosis of omphalocele can be made by late first trimester ultrasound with a sensitivity of 75% and specificity of 95%, or by elevated maternal serum alpha-fetoprotein concentration. Large omphaloceles (>5 cm) are generally present with extracorporeal liver (ECL) herniation, resulting from arrested lateral fold development and failure of abdominal wall closure in the first month of pregnancy. Omphalocele with ECL demonstrated a decreased incidence of congenital anomalies in comparison to those with intracorporeal liver. Nevertheless, ECL is linked to a greater number of life-threatening anatomical and amniotic volume abnormalities. We present a case of omphalocele with extracorporeal liver in 35–36 weeks' gestation and highlight the importance of defect size measurement and extracorporeal liver identification to aid prenatal counseling in making informed decisions about postnatal interventions.

Aim Methods Results Conclusion To identify predictors of morbidity in GO through an analysis of associated anomalies, defect characteristics and management strategies.PubMed and Ovid EMBASE databases were searched from 2013 to 2023. Primary end points assessed correlation of morbidity with gestational age (GA), birth weight (BW), eviscerated organs, defect size, associated anomalies and management strategy.Twenty articles were included for analysis with a total of 1009 GO. Median GA was 37 weeks (27–41), with a median BW of 2700 g (900–6000). 143 cardiovascular anomalies, 238 pulmonary anomalies, 98 musculoskeletal anomalies, 53 urogenital anomalies, 94 gastrointestinal anomalies, 11 neurological anomalies and 43 chromosomal anomalies were identified. 82 had unspecified additional anomalies, of which 20 and 17 were defined as major and minor, respectively. 123 neonates were managed with primary closure, 206 neonates with staged closure and 312 neonates with conservative treatment. Complications included sepsis, respiratory compromise, feeding dysfunction and closure‐related adverse events. Long‐term morbidity included home ventilation (n = 72), long‐term parental nutrition (n = 36), and delayed motor neurodevelopment (n = 21). Main predictors of morbidity were pulmonary hypertension/hypoplasia, major congenital anomalies, greater defect size and liver herniation.Key predictors of poor outcomes include the presence of additional congenital anomalies, defect size, liver herniation and pulmonary hypertension/hypoplasia. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Gastroschisis is one of the most common fetal abdominal defects, along with ectopia cordis, omphalocele and bladder exstrophy. The defect is located mostly to the right of the umbilical cord, although the left side defect may be also encountered. Omphalocele is the defect situated on the midline at the level of the umbilical cord entry, and the organs that protrude are covered by the same membrane that covers the umbilical cord. Organs protruded through gastroschisis are not covered by any membrane and, hence, they are exposed to amnionic fluid, and complications may arise. Early diagnosis is extremely important for the correct management and the parents’ counseling in order to prevent further complications and give the future parents a real insight of expectations and allow them to be prepared for the pregnancy evolution. We present the case of a 24-year-old primigravida, with no risk factors associated. At the 13-week scan, we diagnosed fetal gastroschisis. She chose to perform a cell-free fetal DNA that turned out negative for aneuploidies. Then she decided to continue with the pregnancy after the genetic and maternal-fetal specialist counseling at a tertiary center in Bucharest, Romania. There was an uneventful course of pregnancy until 35 weeks and 3 days, when spontaneous rupture of membranes occurred, and the baby was delivered by caesarean section and then sent to the pediatric ward for management. The baby undergone Silo procedure and, seven days after the caesarean section, the bowel loops were entirely in the abdomen, and the defect was sutured without complications. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. 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. [ABSTRACT FROM AUTHOR]

Omphalocele is an abnormality in which fetal abdominal organs protrude through the abdominal wall. We report the case of a 13-year-old female with a history of omphalocele repair who presented with acute periumbilical pain, nausea, and vomiting. A 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. We 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 considered in surgical patients with a history of omphalocele repair. [ABSTRACT FROM AUTHOR]

Cephalophagus is the rarest type of conjoined twins. Given the exceedingly dismal prognosis, early prenatal detection is crucial because surgical separation is not an option in many situations. The present case report presents a rare non janiceps cephalophagus conjoined twin pregnancy in a 22-year-old primigravida, identified during the third-trimester antenatal ultrasound. Imaging revealed a single face, a shared thoracic cavity with one heart. There were two lungs, the upper abdomen was fused, and the stomach and liver were shared. Two vertebral columns, separate pelvises, and two pairs of limbs were seen. An omphalocele containing liver tissue was observed. An emergency C-section delivered the cephalophagus foetus, underscoring the vital role of early antenatal ultrasound in managing such cases.

Introduction: Heteropagus twins are extremely rare, occurring in one to two million live births. To date, fewer than 75 cases of epigastric heteropagus twins have been reported, and only a handful of these cases have involved heteropagus twins with a concomitant omphalocele. Case presentation: We present a case of heteropagus twins in a 2-day-old neonate with a fully formed parasitic mass attached to the lower anterior chest wall and epigastrium. The parasitic twin was acephalic and acardiac, had bowel structures, pelvic bones, bilateral lower limbs, and a single upper limb. The blood supply of the parasitic twin primarily originated from the right internal mammary artery, and the venous return was via the right internal mammary vein to the superior vena cava. The parasitic twin's bowel loops overlapped the left lobe of the autosite's liver, which was partially contained in a midline omphalocele-like abdominal wall defect. The autosite also had a small patent foramen ovale and a patent ductus arteriosum with a left-to-right shunt. A successful dissection and excision of the parasitic twin was done to remove the rudimentary limbs, pelvis, and part of the parasitic trunk. The autosite's omphalocele was repaired at the same time. The patient had an uneventful postoperative recovery. Conclusion: Early surgical separation of heteropagus twins is crucial to optimize the outcomes of the healthy twin.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Omphalocele and gastroschisis are the most frequent congenital developmental abdominal wall defects. Prenatal diagnosis of omphalocele and gastroschisis is critical in the management of the pregnancy, affording patients the option of termination. This study aims to evaluate the prenatal diagnosis and postnatal outcomes of omphalocele and gastroschisis cases. Materials and Methods: The cases of gastroschisis and omphalocele diagnosed prenatally and followed up at our university were evaluated retrospectively between January 2019 and January 2022. Maternal demographic and clinical characteristics and perinatal outcomes were compared between the cases. Results: This study evaluated 42 omphalocele and nine gastroschisis cases. All gastroschisis cases were isolated (p =.001). Additional anomalies were present in 61.9% of omphalocele cases. While two patients with gastroschisis refused the invasive procedure, the genetic results of the others were normal. The karyotype was abnormal in 42.9% of omphalocele cases (p =.008). Half of the omphalocele cases were terminated, and 38.1% (n = 8) of the terminated omphalocele cases were trisomy 18. The coexistence of multiple system anomalies and cystic hygroma was high in the terminated cases. In all cases of gastroschisis, only the intestines protruded from the abdominal wall into the amniotic fluid. The number of survivors of omphalocele was 23.8%. The median hospital stay was 25 and 14 days for gastroschisis and omphalocele, respectively. Conclusion: Prenatal diagnosis of omphalocele and gastroschisis is critical in pregnancy management. The presence of associated anomalies determines the prognosis of omphalocele and gastroschisis. [ABSTRACT FROM AUTHOR]

Congenital umbilical cord hernia is often misdiagnosed and easily confused with a small omphalocele. It is different from postnatally diagnosed umbilical hernias and is believed to arise from persistent physiological mid-gut herniation. Its incidence is estimated to be 1 in 5,000, although some articles reported the incidence rate of approximately 0.2%. It is very important to clearly diagnose these cases in the antenatal period so that the patients receive appropriate management postnatally and to decrease the stress in the parents as well. Umbilical cord hernias have not been associated with other chromosomal anomalies.

We herein present a case of a ruptured giant omphalocele with congenital short small intestine. Vacuum-sealing drainage and carboxymethylcellulose silver dressing promoted wound healing after repair, avoided abdominal compartment syndrome, and reduced the risks of multiple procedures. We review the perioperative management of omphaloceles in congenital short small intestines.

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.

Normal childhood growth is an indicator of good health, but data addressing the growth of children born with abdominal wall defects (AWDs) are limited. The detailed growth phenotypes of children born with gastroschisis or omphalocele are described and compared to peers without AWDs from birth to adolescence. Data from 183 gastroschisis and 144 omphalocele patients born between 1993 and 2017 were gathered from Finnish nationwide registers and electronic health records. Weight (n = 3033), length/height (n = 2034), weight-for-length (0–24 months, n = 909), and body mass index measures (2–15 years, n = 423) were converted into sex- and age-specific Z-scores. Linear mixed models were used for comparisons. Intrauterine growth failure was common in infants with gastroschisis. Birth weight Z-scores in girls and boys were − 1.2 (0.2) and − 1.3 (0.2) and length Z-scores − 0.7 (0.2) and − 1.0 (0.2), respectively (p < 0.001 for all comparisons to infants without AWDs). During early infancy, growth failure increased in infants with gastroschisis, and thereafter, catch-up growth was prominent and faster in girls than in boys. Gastroschisis children gained weight and reached their peers' weights permanently at 5 to 10 years. By 15 years or older, 30% of gastroschisis patients were overweight. Infants with omphalocele were born with a normal birth size but grew shorter and weighing less than the reference population until the teen-age years. Conclusion: Children with gastroschisis and omphalocele have distinct growth patterns from fetal life onwards. These growth trajectories may also provide some opportunities to modulate adult health. What is Known: • Intrauterine and postnatal growth failure can be seen frequently in gastroschisis and they often show significant catch-up growth later in infancy. It is assumed that part of the children with gastroschisis will become overweight during later childhood. What is New: • The longitudinal growth of girls and boys with gastroschisis or omphalocele is described separately until the teenage years. The risk of gaining excessive weight in puberty was confirmed in girls with gastroschisis. [ABSTRACT FROM AUTHOR]

Abstract Purpose The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH). Methods This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others. Results There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p

This paper reports a case of Kagami-Ogata syndrome in a preterm infant with gestational age of 30 weeks. Prenatal ultrasonography suggested excess amniotic fluid, large biparietal diameter and abdominal circumference, and widening of the lateral ventricles, renal pelvis, and intestinal tubes in several places. Postnatal examination showed a small jaw, collapsed nose, and upturned nostrils; the chest was narrow and bell-shaped, and the abdominal wall showed diastasis recti and a bowel pattern. Chest radiographs showed 'hanger sign' ribs. Ultrasound showed widening of the lateral ventricles, hydronephrosis in both kidneys and cryptorchidism. Thyroid function tests suggested congenital hypothyroidism. Prenatal amniocentesis results obtained on day 6 after birth revealed the presence of a microdeletion of approximately 268.2 kb in the known genomic imprinted region 14q32.2 from the mother. The diagnosis of Kagami-Ogata syndrome was confirmed on the basis of the prenatal amniocentesis results and the clinical presentation of the infant after birth. The family gave up treatment after the infant was treated with ventilator, nutritional support, and antibiotics without significant improvement. In this paper, we summarize the diagnosis and treatment of this infant and review the literature inorder to enrich the clinical knowledge of this disease.

Abstract Background Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate. However, the long-term outcomes of fetuses with prenatally diagnosed omphalocele have scarcely been studied. Therefore, we investigated the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provided a reference for the perinatal management of such cases. Methods A total of 120 pregnant females with fetal omphalocele were diagnosed using prenatal ultrasonography at the Fujian Provincial Maternity and Child Health Hospital from January 2015 to March 2022. Amniotic fluid or cord blood samples were drawn at different gestational weeks for routine karyotype analysis, chromosomal microarray analysis (CMA) detection, and whole exome sequencing (WES). The maternal and fetal outcomes were followed up. Results Among the 120 fetuses, 27 were diagnosed with isolated omphalocele and 93 with nonisolated omphalocele using prenatal ultrasonography. Cardiac anomalies were the most observed cause in 17 fetuses. Routine karyotyping and CMA were performed on 35 patients, and chromosomal abnormalities were observed in five patients, trisomy 18 in three, trisomy 13 in one, and chromosome 8–11 translocation in one patient; all were non-isolated omphalocele cases. Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants. Of the 120 fetuses, 112 were successfully followed up. Eighty of the 112 patients requested pregnancy termination. Seven of the cases died in utero. A 72% 1-year survival rate was observed from the successful 25 live births. Conclusion The prognosis of fetuses with nonisolated omphalocele varies greatly, and individualized analysis should be performed to determine fetal retention carefully. Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. If the fetal karyotype is normal and no associated abnormalities are observed, fetuses with omphalocele could have a high survival rate, and most will have a good prognosis.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Abstract Background A few cases of small omphalocele with umbilical evagination of the bladder have been reported. However, its embryology is yet to be elucidated. Only a few reports have indicated the existence of urachal anomalies and umbilical cysts related to bladder evagination. The incidence of urachal anomalies at birth is reported to be 1 in 5000–8000 live birth, and urachal aplasia is rare. Herein, we report a rare, novel case of urachal aplasia. Case presentation We encountered a small omphalocele with bladder evagination associated with urachal aplasia for which the neonate underwent surgery one day after birth. The patient was a one-day-old boy with a prenatally diagnosed omphalocele. A fetal magnetic resonance image (MRI) scan (25 weeks of gestation) revealed a 30 × 33 mm (approximately 1.3 in.) cystic lesion which was suspected to be an umbilical cyst. The baby was born vaginally at 38 weeks, weighing 2956 g. An omphalocele (hernial orifice diameter, 4 cm × 3 cm) with bladder prolapse was recognized. After sac excision, the prolapsed bladder was resected and closed with two-layer sutures. In order to secure sufficient bladder capacity, we estimated the minimum residual volume as 21 ml after bladder plasty. The remaining bladder capacity was confirmed to be 30 ml by injecting a contrast dye and saline into the bladder. The neonate had no associated cardiac urogenital or skeletal anomalies. Postoperative course was uneventful. The patient was regularly followed up for two years after surgery and underwent umbilicoplasty. He had no trouble with urinary function. Conclusion In this case, we experienced extremely rare condition of a small omphalocele with bladder evagination associated with urachal aplasia and reviewed 7 case reports of anomalies similar to those in the present case. Umbilical cord cysts may be an informative indicator of these symptoms in utero. Therefore, ultrasonography scans should be conducted until delivery, despite the spontaneous disappearance of cord cysts.

Background: Omphalocele is the result of the abnormal interaction between biological/molecular mechanisms and a genetic predisposition during the first twelve weeks of development, where the return of the intestinal loops to the abdominal cavity is disturbed. Muscle relaxation with botulinum toxin A (TxBtA) has been used as an adjuvant postnatal therapy for the repair of complex abdominal wall defects. Case presentation: A female fetus was diagnosed with a giant omphalocele at 14 weeks of gestation. At 34 weeks and 5 days of gestation, 35 units of TxBtA (diluted at 100 units per 10 ml) were injected under ultrasound guidance into each muscle of the left and right sides of the abdominal wall with a 25G spinal needle. The fetus tolerated the procedure well. Two weeks after the injection, the first ultrasound examination was done and revealed a noteworthy change in the shape of the abdominal circumference, with a 50 % decrease in the omphalocele size. The newborn was delivered at 38 weeks and 3 days of gestation. The omphalocele had a maximum diameter of 7 cm. The patient required mechanical ventilation for 24 hours. The reconstruction of the anterior abdominal wall was completed on the fifth day of life using a component separation technique. Feedings were initiated one day after the closure and the patient was discharged home on the 12th day of life. The patient has not experienced any complications at 2 months of follow up. Conclusion: Our case suggests that prenatal muscle relaxation of the abdominal wall with TxBtA could reduce the need for mechanical ventilation, the time on parenteral nutrition, and the overall hospital stay in newborns with giant omphalocele.

Purpose: The purpose of this study was to explore echocardiographic parameters of the left ventricle (LV) in relation to the outcomes of omphalocele neonates with pulmonary hypertension (PH). Methods: This retrospective study was conducted among omphalocele patients with PH born from 2019 to 2020. Patients in this study did not have additional severe malformations or chromosomal aberrations. Patients who died under palliative care were excluded. The echocardiographic parameters of LV were obtained within 24 h after birth. Clinical and outcomes data were recorded, echocardiograms evaluated for left ventricular internal dimension in end-diastole (LVIDd), end-diastolic volume (EDV), stroke volume (SV) and cardiac output index (CI), among others. Results: There were 18 omphalocele newborns with PH, of whom 14 survived and 4 died. Both groups were comparable in the baseline characteristics. Non-survival was associated with a smaller LV [LVIDd (12.2 mm versus15.7 mm, p < 0.05), EDV (3.5 ml versus 6.8 ml, p < 0.05)] and with worse systolic function [SV (2.3 ml versus 4.2 ml, p < 0.05), and CI (1.7 L/min/m2 versus 2.9 L/min/m2, p < 0.01)]. Conclusion: In the cohort of omphalocele patients with PH, lower LVIDd, EDV, SV and CI were associated with mortality. Level of evidence: Level III. [ABSTRACT FROM AUTHOR]

To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies. A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size, content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed. Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007 %. Overall survival during the study period was 73.9 %. Twenty-eight (71.7 %) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7 % in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42 %; followed by placental or umbilical cord anomalies (28.9 %), skeletal defects (27.5), genitourinary anomalies (20.2 %), central nervous system (18.8 %) and facial anomalies (7.2 %), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95 % CI (1.1–19.5) and (OR: 10.3 95 % CI (1.6–63.9), respectively). Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival. [ABSTRACT FROM AUTHOR]

We compared strategy outcomes and financial impact over the first two years of life (F2YOL) for patients with giant omphaloceles undergoing early repair (ER) (primary or staged) versus delayed repair (DR). A retrospective review of giant omphaloceles (fascial defect > 5 cm/> 50% liver herniation) at a tertiary children's hospital between 1/1/2010 and 12/31/2019 was performed. Survival, length of stay, age at repair, ventilation days (VD), time to full enteral feeds, readmissions during the F2YOL, incidence of major associated anomalies, and total hospitalization charges during the F2YOL were compared. A subanalysis removing potential confounders and only including patients who underwent fascial closure within the F2YOL was also conducted. Thirty four giant omphaloceles (23DR and 11ER) were identified. The median age (days) at repair was 289 [148, 399] DR versus 10 [5, 21] ER, P < 0.001. Total cohort two-year survival was significantly higher in the DR group (95.7% versus 63.6%, P = 0.03). Including patients with a tracheostomy there was no significant difference in VD during the index hospitalization. Excluding tracheostomy patients, the DR group had significantly fewer VD during the index hospitalization, 15 [0, 15] versus 18 [10, 54], P = 0.02 and over the F2YOL 6.5 [ 0, 21] versus 18 [14, 43], P = 0.03. There were no significant differences in the incidence/type of major associated anomalies, time to full enteral feeds, index length of stay, total hospital days, total admissions, or associated hospital charges. On subanalysis, there was no significant difference in VD or survival at any time. Delayed and early repair strategies for giant omphaloceles have equivalent outcomes in the index hospitalization and over the course of the first two years of life. These findings are useful for family counseling and expectation setting. [ABSTRACT FROM AUTHOR]

Aim: Exomphalos is a congenital anomaly found in 1/4500 newborns. Choice of non‐operative management of exomphalos major unamenable to primary repair is controversial. This study aims at reviewing conservative management modalities and compare outcomes and complications. Methods: A systematic review was performed according to PRISMA guidelines of all English publications in MEDLINE and EMBASE databases. Search words were exomphalos OR omphalocoele AND conservative OR non‐operative AND management. Studies were scrutinised for patient demographics, co‐morbidities, mode of treatment, time to full feeds, time to full epithelialisation, length of stay, complications and mortality. Studies not specifically describing mode of management and/or describing primary or staged surgical repairs were excluded. Results: Initial search resulted in 1243 studies. Forty‐two studies were deemed suitable offering 822 patients for analysis after excluding duplicates and non‐eligible studies. Management methods varied including painting with Alcohol, Mercurochrome, silver products, Povidone Iodine, honey and other materials. Mortality was mostly due to associated anomalies. There was mixed reporting of alcohol, silver, Povidone Iodine and mercury toxicity as well as infection during the course of treatment. Conclusion: This report has recognised the variations in topical substances employed for conservative management with no clear consensus. Reports on safety of different methods remain unclear. [ABSTRACT FROM AUTHOR]

Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g. Wilms tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma. The aim of this study was to examine the prevalence of BWS and the risk of embryonal tumors amongst patients born with omphalocele. A population-based cohort was used, including all children born in Sweden 1/1 1997–31/12 2016. Patients with omphalocele were identified through the Swedish National Patient Register and the Swedish Medical Birth Register. For each case of omphalocele ten age and sex matched individuals unexposed for omphalocele were randomly selected for comparison. Data on BWS and embryonal tumors were collected from the Swedish National Patient Register and the Swedish National Cancer Register. Out of 207 cases of omphalocele, 15 (7.2%) were diagnosed with BWS. None of the children with omphalocele had yet developed any kind of embryonal tumor (median follow-up time 8 years). None of the 2070 controls were diagnosed with BWS but 3 (0.1%) of them had developed embryonal tumors during a median follow-up time of 10 years. In this study the prevalence of BWS amongst children born with omphalocele is in the lower range of previously reported figures. Also, the prevalence of embryonal tumors amongst children with BWS is lower than expected and the risk of embryonal tumors in children with omphalocele and BWS might not be as high as previously stated. This must be taken into consideration when counseling parents prenatally. National register cohort study. II. [ABSTRACT FROM AUTHOR]

Background: Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate. However, the long-term outcomes of fetuses with prenatally diagnosed omphalocele have scarcely been studied. Therefore, we investigated the ultrasonographic features, genetic characteristics, and maternal and fetal outcomes of fetuses with omphalocele and provided a reference for the perinatal management of such cases. Methods: A total of 120 pregnant females with fetal omphalocele were diagnosed using prenatal ultrasonography at the Fujian Provincial Maternity and Child Health Hospital from January 2015 to March 2022. Amniotic fluid or cord blood samples were drawn at different gestational weeks for routine karyotype analysis, chromosomal microarray analysis (CMA) detection, and whole exome sequencing (WES). The maternal and fetal outcomes were followed up. Results: Among the 120 fetuses, 27 were diagnosed with isolated omphalocele and 93 with nonisolated omphalocele using prenatal ultrasonography. Cardiac anomalies were the most observed cause in 17 fetuses. Routine karyotyping and CMA were performed on 35 patients, and chromosomal abnormalities were observed in five patients, trisomy 18 in three, trisomy 13 in one, and chromosome 8–11 translocation in one patient; all were non-isolated omphalocele cases. Six nonisolated cases had normal CMA results and conventional karyotype tests, and further WES examination revealed one pathogenic variant and two suspected pathogenic variants. Of the 120 fetuses, 112 were successfully followed up. Eighty of the 112 patients requested pregnancy termination. Seven of the cases died in utero. A 72% 1-year survival rate was observed from the successful 25 live births. Conclusion: The prognosis of fetuses with nonisolated omphalocele varies greatly, and individualized analysis should be performed to determine fetal retention carefully. Routine karyotyping with CMA testing should be provided for fetuses with omphalocele. WES is an option if karyotype and CMA tests are normal. If the fetal karyotype is normal and no associated abnormalities are observed, fetuses with omphalocele could have a high survival rate, and most will have a good prognosis. [ABSTRACT FROM AUTHOR]

A neonatal Holstein bull calf presented emergently for abdominal evisceration. Calving was unassisted. Ninety minutes postpartum, farm staff noted the defect and brought the patient to the hospital. On presentation, the calf was recumbent, dull, and in hypovolemic shock with uncompensated hyperlactatemic metabolic acidosis. Multiple organs were identified through a 4–5 cm defect in the caudoventral midline. Differentials included a ruptured omphalocele, gastroschisis, trauma and schistosomus reflexus. This presentation was consistent with a ruptured omphalocele. Following triage and haemodynamic stabilisation, the eviscerated abdominal contents were lavaged, surgically replaced and an umbilical resection with partial cystectomy performed to remove a patent urachus. Postoperatively, the patient was hospitalised with aggressive nursing care. Pharmacotherapy included prophylactic antibiotics, gastroprotectants and anti‐inflammatory medication. The calf developed mild postoperative pneumonia, but was discharged after 6 days. This report details management of omphalocele evisceration in a calf and the pathology of congenital midline anomalies in neonatal ruminants. [ABSTRACT FROM AUTHOR]

Introduction: The combination of a patent omphalomesenteric duct in the setting of an omphalocele is rare and has an unusual physical appearance on presentation. Case presentation: We share the case of a neonate who presented with omphalocele and a concurrent patent omphalomesenteric duct with intestinal prolapse. We report the early diagnosis and operative management of this presentation with intestinal resection and anastomosis, and primary closure of the omphalocele. The patient had no other abnormalities and after uncomplicated recovery, was able to discharge uneventfully tolerating oral feeds. Conclusion: Because the initial appearance of a patent omphalomesenteric duct in an omphalocele is unusual with visible bowel mucosa and an intact omphalocele membrane, this variation of an abdominal wall defect is at risk of being misdiagnosed as a ruptured omphalocele, gastroschisis, or another complex abdominal wall defect. Expeditious surgical management is indicated.