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Objectives: To evaluate the perinatal outcomes of antenatally diagnosed omphalocele cases. Material and methods: This was a retrospective study conducted between July 2014 and February 2020 at the prenatal diagnosis center of a university clinic. Gestational week of diagnosis, associated anomalies, karyotype analysis results, complications during pregnancy, termination/delivery characteristics, and postnatal results were evaluated. Results: The analysis was performed on 58 patients. The median diagnosis time was 14.5 weeks of gestation. Thirty-three cases (57%) were defined in the first trimester. 33 (57%) of 58 patients had one or more concomitant anomalies, while 25 patients (43%) had isolated omphalocele. The most common associated anomaly was a cardiac anomaly which was observed in 17 fetuses (30% of all omphalocele cases). Karyotype analysis was performed in forty-five patients (41 in the prenatal period, 4 in the postnatal period). A normal karyotype was detected in 27 cases (60%). Trisomy 18 was the most common chromosomal anomaly (n = 15, 33.3%). Thirty of 58 patients (52%) requested termination of pregnancy (TOP) in the early pregnancy period. Thirteen of the cases died in-utero (22%). Fifteen pregnancies resulted in live births (26%), of those eight were lost in the first year of life (six of them had additional anomalies, while two of them had isolated omphalocele but the omphalocele pouch was containing the liver in those two babies). Conclusions: Most of the cases with an omphalocele can be diagnosed in the first trimester. Cardiac anomalies were the most common associated anomalies, while trisomy 18 is the most common chromosomal anomaly. Thus, earlier and effective counseling can be made about the prognosis of pregnancy.

Introduction. Chilaiditi syndrome—hepatodiaphragmatic interposition—is a rare condition in which bowel loops are compressed in the space between the liver and the dome of the diaphragm, which can lead to the development of a wide range of complications. In the available literature data on the clinical manifestations of this condition in children with omphalocele are not described.Materials and methods. The article describes rare clinical cases of patients 1 year 1 month, 2 years 11 month and 12 years old, previously operated on in the neonatal period for omphalocele, in whom, in the long term after surgery, signs of hepatodiaphragmatic interposition persisted, which led to the development of chronic duodenal obstruction.Conclusion: It has been proven that the leading role in restoring the normal topography of the abdominal organs in children with omphalocele is played by the complete mobilization of the liver and the great vessels (IVC) fi xing it, which provide the possibility of its subphrenic localization. Chronic duodenal obstruction in children with a similar pathology has not been previously described. The proposed original method of surgical treatment seems to be pathogenetically justifi ed.

Purpose Incisional hernia (IH) is a complication following abdominal surgery extensively studied in adults but less so in infants. This study aimed to identify the incidence, high risk diseases and risk factors of IH following abdominal surgery in infants. Methods Infants undergoing abdominal surgery before the age of three years in our tertiary centre between 1998 and 2018 were included. Patient demographics, peri‑operative details and the course during follow up were retrospectively extracted from patient records. Multivariate logistic regression was performed to identify risk factors. Results The incidence of incisional hernia was 5.2% (107/2055). Necrotizing enterocolitis (12%), gastroschisis (19%), and omphalocele (17%) had the highest incidences of IH. Wound infection (OR: 5.3, 95%-CI:2.9–9.5), preterm birth (OR: 4.2, 95%-CI:2.6–6.7) and history of stoma (OR 1.7, 95%-CI:1.1–2.8) were significant risk factors for IH. Whilst age at surgery, surgical approach and total number of operations did not significantly influence IH development. The IH resolved in 15% (16/107) without surgery. Conclusion One in twenty infants experiences IH following abdominal surgery, which is higher than previously described. Understanding the incidence of IH and associated risk factors will allow physicians to identify infants that may be at increased risk for IH and to possibly act pre-emptively.

BACKGROUND: The pentalogy of Cantrell is a rare congenital malformation characterized by five component defects in the anterior abdominal wall, lower sternum, anterior diaphragm, and diaphragmatic pericardium and congenital heart disease. The occurrence of the five features is quite rare. The pentalogy of Cantrell is classified as complete, partial, and incomplete. Few studies have described the successful treatment of neonates with the pentalogy of Cantrell, with even fewer publications about an incomplete defect. CASE REPORT: We report the successful surgical treatment of a newborn boy with an incomplete pentalogy of Cantrell. In this patient, the diaphragmatic hernia was eliminated at the first stage, and a temporary container for umbilical cord hernia was made by suturing the silastic sac to the edges of the defect in the anterior abdominal wall for subsequent gradual immersion of the hernia contents into the abdominal cavity. These steps made it possible to reduce intra-abdominal and, accordingly, intrathoracic pressures, provide favorable conditions for the healing of the diaphragm, and thus stabilize the childs respiratory and cardiovascular systems. Subsequently, the cardiovascular system was examined under more favorable conditions and intracardiac defects were excluded. Moreover, the proposed technique made it possible to safely perform the second stage of surgical correction, i.e., radical plasty of the anterior abdominal wall on day 14 of life with full restoration of the normal anatomical and physiological relationships, by which time the diaphragm and mediastinum had taken their correct topographic position. The literature review provides data from 32 sources. CONCLUSION: The pentalogy of Cantrell is a severe congenital malformation with a high risk of poor outcomes. Reporting of all possible variants of the pentalogy of Cantrell (complete, partial, or incomplete), regardless of the outcome, is important for the accumulation of experience in treating such patients, which by focusing on the clinical situation and the combination of various defects in the pentalogy of Cantrell will improve the strategy and prognosis for this defect.

Objective. We report the first case in which the onset of omphalocele was after the spontaneous rupture of an allantoic cyst. We hypothesize a causal link between the spontaneous rupture of the cyst and the herniation of the viscera. Case Presentation. A 36-year-old woman was diagnosed with an allantoic cyst during the first trimester. The allantoic cyst underwent spontaneous rupture during the 32nd week of gestation, and an omphalocele developed secondary to the cyst’s rupture. Two days after birth, the peritoneum covering intestinal loops broke spontaneously and the newborn underwent successful urgent surgery. Conclusions. This case may suggest that the relative benignity of the allantoid cysts may recommend a close ultrasound follow-up in order to identify the onset of any complications, as a late third trimester onset of omphalocele. Prenatal diagnosis of such complications may allow multidisciplinary management of the pregnancy with planned cesarean section, prenatal pediatric surgery consultation, and neonatal surgery.

Background: Congenital fetal anomalies were defined as any structural defect present at birth. Congenital fetal anomalies are an important causes of neonatal morbidity and mortality in developed and developing countries that affect health care system. Reliable data on these congenital anomalies are still lacking, especially in Indonesia. Objective: This study aims to determine the characteristic profile of congenital fetal anomaly in single tertiary hospital in East Java, Indonesia. Methods: Retrospective cross-sectional by using medical record data of dr. Soetomo General Hospital on January – December 2017. Results: There were 58 cases (4,3%) with fetal congenital anomaly from 1360 deliveries in 2017. The majority of cases were referral cases (51 cases; 88%) and only seven cases were booked cases in obstetric outpatient dr. Soetomo General Hospital. Most of these congenital fetal anomaly cases ( 25 cases / 43,1%) were born from mother with ages 20 – 30 years old. Most cases (34 cases; 58,64%) were diagnosed first at third trimester (gestational age > 28 weeks). There were 36 cases (62%) had active termination of pregnancy. Thirty eight percent (22 cases) were born at 37-42 weeks and majority were born section caesaria. The three highest proportion of organ systems involved in fetal congenital anomalies were those of abdomen (22 cases; 37,9%); head (20 cases; 34,5%); thorax and muskuloskeletal (each 12 cases; 20,7%). Conclusion: The incidence of congenital fetal anomaly in dr. Soetomo Hospital at 2017 was 4,3%. Omphalocele and CTEV were two most common types of congenital fetal anomaly found. Most cases of congenital fetal anomalies have a poor prognosis, 67% cases born died. Further research about risk factors and comprehensive database are needed on cases of congenital anomaly to establish appropriate prevention and management.

Omphalocele is a rare type of congenital abdominal wall defect that allows intestines (and sometimes a portion of liver) covered by a paper-thin membrane (amnion) to protrude from the abdominal wall at the navel area. The aim of the current study is to report the first successful rectification of a congenital omphalocele in a day old neonatal cow calf using a basic suture pattern in laparotomy at cattle populous area of Jhang (Punjab). The case was presented at College of Veterinary and Animal Sciences, Jhang. The calf after surgery manifested a steady and progressive growth rate without any complication suggesting the success of the surgical remedy. At the same time this approach is quite economical to the farmer in the context of saving the life of his farm. It is concluded that this surgery can instituted with success in cases with fair body condition, less contaminated in the absence of predominant necrosis of the tissues.

espanolIntroduccion: El onfalocele gigante se define por defecto de pared abdominal de 5 cm de diametro a mas o presencia de herniacion hepatica. Se ha descrito el uso de toxina botulinica como coadyuvante en la reconstruccion de la pared abdominal en adultos, su utilidad en pediatria aun es poco descrito, pero si muestra seguridad y eficacia. Reporte de Caso: Paciente femenino de 40 semanas de edad gestacional con onfalocele gigante con defecto amplio de aproximadamente 9 centimetros, en quien a los 75 dias de vida se le aplica inyecciones de toxina botulinica alrededor del defecto y es intervenida a la semana para al cierre definitivo de pared abdominal, la cual se logra sin tension ni intercurrencias post operatorias. Conclusion: El uso de toxina botulinica muestra tener alta efectividad para lograr un cierre de pared abdominal en pacientes con onfalocele gigante. EnglishIntroduction: Giant omphalocele is an abdominal wall defect of 5cm in diameter or more or presence of liver herniation. The use of botulinum toxin has been described as an adjunct therapy in the reconstruction of the abdominal wall in adults. Its use in pediatric patients is still little described but it does show safety and efficacy. Case Report: 40-week gestational-age female patient with a giant omphalocele with a wide defect measuring approximately 9 centimeters, in whom at 75 days of life botulinum toxin injections were applied around the defect and operated a week after for definitive abdominal wall closure which was achieved without tension or post-operative intercurrences. Conclusion: The use of botulinum toxin is shown to be highly effective in achieving abdominal wall closure in infant patients with giant omphalocele.

Background Robotic-assisted laparoscopy (RAL) is an alternative to traditional laparoscopic surgery that might increase a surgeon's ability to offer minimally invasive removal of Mullerian remnants (MR) to patients with complex anatomy. We report on 2 cases of RAL resection of MR. Cases RAL allowed for adequate resection of MR without complications in 2 cases. Case 1 was a 13 year-old female adolescent with VACTERL and uterine remnant close to the ureter of her ipsilateral single kidney. Case 2 was a 16 year-old female adolescent with cloacal exstrophy and omphalocele with remnant hindgut and cervical remnant deep in the pelvis close to the ileal conduit. Summary and Conclusion In 2 adolescents with complex anatomy and surgical history, RAL allowed for successful removal of MR.

The aim of this nationwide population-based case–control study was to assess the incidence of inguinal hernia (IH) among patients with congenital abdominal wall defects. All infants born with congenital abdominal wall defects between Jan 1, 1998, and Dec 31, 2014, were identified in the Finnish Register of Congenital Malformations. Six controls matched for gestational age, sex, and year of birth were selected for each case in the Medical Birth Register. The Finnish Hospital Discharge Register was searched for relevant diagnosis codes for IH, and hernia incidence was compared between cases and controls. We identified 178 infants with gastroschisis and 150 with omphalocele and selected randomly 1968 matched, healthy controls for comparison. Incidence of IH was significantly higher in gastroschisis girls than in matched controls, relative risk (RR) 7.20 (95% confidence interval [CI] 2.25–23.07). In boys with gastroschisis, no statistically significant difference was observed, RR 1.60 (95% CI 0.75–3.38). Omphalocele was associated with higher risk of IH compared to matched controls, RR 6.46 (95% CI 3.90–10.71), and the risk was equally elevated in male and female patients.Conclusion: Risk of IH is significantly higher among patients with congenital abdominal wall defects than in healthy controls supporting hypothesis that elevated intra-abdominal pressure could prevent natural closure of processus vaginalis. Parents should be informed of this elevated hernia risk to avoid delays in seeking care. We also recommend careful follow-up during the first months of life as most of these hernias are diagnosed early in life.What is Known:• Inguinal hernia is one of the most common disorders encountered by a pediatric surgeon.• Prematurity increases the risk of inguinal hernia.What is New:• Children with congenital abdominal wall defects have a significantly higher risk of inguinal hernia than general population.• Families should be informed of this elevated hernia risk to avoid delays in seeking care.

Aim The management of patients with congenital anterior abdominal wall defects remains challenging, particularly in cases of giant omphalocele. In 1948, San Martin described a surgical technique for the repair of large midline incisional hernias in adults without the need for a mesh. The purpose of this report is to describe our experience with this technique for the delayed closure of giant omphaloceles. Methods We retrospectively reviewed the outcomes of all patients with giant omphalocele managed with the San Martin technique between September 2013 and March 2019. Data collected included birth weight, gestational age, associated malformations, neonatal hospital stay, age at the time of the abdominal wall closure, days on mechanical ventilation (MV) after the closure, time to initiation of enteral feedings, intra- and postoperative complications, and postoperative hospital stay. Results A total of 8 patients were included in the study. The median birth weight was 3.190 (2.150 to 3.400) grams. The median gestational age was 35 (32 to 38) weeks. The median age at surgery was 6 (5 to 13) years. The median postoperative days on MV was 3 (3 to 11) days. Enteral feeding were initiated postoperatively at a median of 4 ( 2 to 4) days. There was one intraoperative complication (minor vascular injury). There were no short-term or long-term complications directly related to the surgical technique. The median postoperative hospital stay was 10 (6 to 16) days. The follow-up was 18 months to 8 years. Conclusion We believe that the San Martin technique is a valid alternative for the delayed closure of giant omphaloceles. Level of evidence According to the Journal of Pediatric Surgery this research corresponds to type of study level IV for case series with no comparison group.

Early detection of Beckwith-Wiedemann syndrome (BWS) is very important since it is very useful regarding counseling of parents concerning the risk of developing embryonic tumors, selection of the mode of delivery due to potential adrenal cysts that might bleed during labor, prevention of neonatal hypoglycemia and even options of pregnancy termination in non-viable fetuses. This report describes the prenatal classic sonographic triad of fetal BWS (omphalocele, macrosomia, macroglossia) and other supporting findings (hepatomegaly, adrenal enlargement) as well as additional postnatal evidence. Also, it demonstrates new molecular genetic evidence potentially associated with the disease (the presence of a novel heterozygous c.358G>T variant of the CDKN1C gene). Importantly, we provide new evidence indicating that elevated levels of the four serum biomarkers (alpha-fetoprotein, beta-human gonadotropin, unconjugated estriol, and inhibin-A) in late first or early second trimester might be strongly suggestive of BWS which may facilitate early detection especially in cases of no obvious anomaly. In conclusion, this study emphasizes on early detection of BWS as early as at 14 weeks of gestation, based on the abnormal rise of the four serum biomarkers together with omphalocele. To the best of our knowledge, this is the earliest prenatal detection of BWS ever reported. Finally, we provide new molecular genetic evidence that is, potentially associated with BWS.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome that can be associated with a spectrum of clinical features including isolated lateralized overgrowth, macrosomia, macroglossia, organomegaly, omphalocele/umbilical hernia, and distinct facial features. Because of a range of clinical presentations and molecular defects involving Chromosome 11p15, many cases will fall within what is now being defined as the Beckwith-Wiedemann spectrum (BWSp). Cushing syndrome (CS) in infants is a rare neuroendocrinological disease associated with hypercortisolism that has rarely been reported in patients with BWS. Here, we describe the first case of a 5-month-old male with CS secondary to paternal uniparental disomy of Chromosome 11p without additional clinical signs or symptoms of BWS. This case continues to expand the phenotypic spectrum of BWSp.

Introduction: Giant omphaloceles can be a challenge for pediatric surgeons and neonatologists worldwide. It is a rare and low-frequency congenital anomaly with no standardized management schemes or treatment protocols. Over the past few decades, we have developed a simple and efficient staged management for giant omphaloceles that allows definitive closure in the neonatal period, the results of which we outline in this report. Material and methods: With IRB approval, a retrospective and multicentric cohort study was carried out between 1994 and 2019 with patients with giant omphalocele defined as an abdominal wall defect greater than 5 cm in diameter and/or that contains more than 50% of the liver within the sac. We included all patients managed with the nonsurgical silo technique. Data on demographics, gestational age, associated malformations, amnion reduction and inversion time, anatomic closure, requirement of a mesh, intra- and post-silo complications, mortality and follow-up were collected. The technique consists of the construction of a silo with an adhesive hydrocolloid dressing (DuodermⓇ) to achieve an omphalocele staged-reduction until complete abdominal reintegration of the liver and bowel preservation of the amnion sac. This also enables the simulation of abdominal closure before definitive surgical closure, being managed in the neonatal intensive care unit (NICU). Results: Forty patients, 21 of whom were female, were managed with this technique. The average weight was 2900 gs (890–3900), and the median gestational age was 38 weeks (28–40). In total, 37.5% of cases had an associated comorbidity. The average silo reduction time was 7.3 days (0–35), the average time of amnion inversion was 5 days (2–9), and the average time to closure was 14.6 days (6–38). Anatomical closure was achieved in 95% of cases. In 4 patients, an absorbable mesh was used to reinforce the anatomical closure, and in 2 patients (5%), a mesh (DualmeshⓇ) was required to achieve an abdominal closure. There was no mortality associated with this nonsurgical silo technique. The average follow-up time was 60 (6 - 288) months. Conclusion: The staged silo management of giant omphalocele in this series is safe and effective and reduces the time to closure and potential morbidity and mortality compared with traditional surgical or medical management.

Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

Objective We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation. Case report A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes. Conclusion Our case report enhances the phenotype–genotype correlation associated with homozygous loss of function mutations in the PIGN gene.

Cantrell's pentalogy is a congenital multiple malformation consisting of midline supraumbilical thoraco-abdominal wall defects, anterior and pericardial diaphragm defects, lower sternum defects, ectopia cordis and various intracardiac anomalies. Complete pentalogy is very rare. Some additional anomalies may accompany pentalogy and there are cases in the literature where chromosomal anomalies and pentalogy are seen. Cases of Cantrell's pentalogy in twin pregnancies are rare. Twin pregnancies with Cantrell's pentalogy in both fetuses are one of the rarest cases in the literature. In this study, we presented a twin pregnancy case with Cantrell's pentalogy in both fetuses and we reviewed twin pregnancy cases in which Cantrell's pentalogy was seen in the literature. In our case, anomalies were found in both fetuses in the evaluation performed on a 32-year-old, gravida 2, para 1 woman with 10 weeks + 5 days monochorionic-monoamniotic twin pregnancy. The first fetus had ectopia cordis, cystic hygroma and increased nuchal thickness (4.6 mm), and the anterior abdominal wall was in contact with the amniotic band. The second fetus had ectopia cordis omphalocele, cystic hygroma, holoprosencephaly and a single lower extremity deficiency. Both fetuses were pre-diagnosed with Cantrell's pentalogy and the parents were informed about the adverse course of the fetuses. After the completion of the legal procedures, with the approval and decision of the parents, termination was made in the 11th week of pregnancy. External images of the fetuses confirmed the diagnosis. The family denied the autopsy procedure. When we review the literature, twin pregnancies complicated by Cantrell's pentalogy are divided into 3 groups: Group1- cases where one of the twins has completely normal phenotype and the other twin has Cantrell's pentalogy; Group2- cases where one of the twins has Cantrell's pentalogy and the other twin does not have the Cantrell's pentalogy but has several anomalies; Group3- cases where both fetuses have Cantrell's pentalogy. In conclusion, early diagnosis of twin pregnancy cases complicated by Cantrell's pentalogy and determination of all anomalies in both fetuses are very important in terms of obstetric management.

The pathogenesis of omphalocele and gastroschisis is not obvious. Their etiology is disputed. The prevalence and the types of anomalies co-occurring with omphalocele and gastroschisis are variable in the different series published. The aim of this study was to estimate the frequency and the types of co-occurring anomalies in cases with gastroschisis and omphalocele. This study was performed in a well-described population of 387,067 consecutive births between 1979 and 2007. Hundred-one cases with omphalocele were registered (2.61 per 10,000), 75 (74.3%) had co-occurring anomalies comprising chromosomal anomalies (28 cases, 27.7%, including 18 trisomy 18), non-chromosomal syndromes (16 cases, 15.8%, including 3 cases with Beckwith-Wiedemann syndrome, 2 cases with the OEIS sequence, and one case with the Pentalogy of Cantrell complex), and 31 cases, 30.7% with MCA (multiple congenital anomalies). The most common MCA were musculoskeletal (23.5%), urogenital (20.4%), cardiovascular (15.1%), and central nervous (9.1%). Seventy-one cases of gastroschisis were ascertained (1.83 per 10,000). However, the prevalence increased during the study period. The frequency was highest in the mothers 15-19 years old. Sixteen out of the 71 cases with gastroschisis, (22.5%) had co-occurring anomalies including 11 cases of MCA and 5 cases with syndromes. To conclude, the frequency and the types of anomalies co-occurring with omphalocele and gastroschisis are peculiar. Therefore, cases with gastroschisis and omphalocele need to be screened for co-occurring anomalies.

Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bífida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una polimalformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatología aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

Folic acid (vitamin B9) is a water-soluble vitamin, essential for the growth and development of the blood and immune systems. Its deficiency is a significant risk factor for fetal neural tube defects. The widespread implementation of drugs and food supplements containing folic acid in preparation for pregnancy and in its first trimester has significantly reduced the incidence of fetal neural tube defects.According to current recommendations, taking 0.4 mg of folic acid per day is indicated within 6 months before conception and in the first trimester of pregnancy. Taking folic acid at a dosage of 4 mg is indicated for patients with a history of a fetal neural tube defect.There are also other risk factors for developing fetal neural tube defects. These include family history, obesity, malabsorption syndrome, folate cycle gene polymorphisms, smoking, drug use, diabetes mellitus (pre-gestational), and other chronic diseases. Determination of the required dosage of folic acid in these categories of patients still requires discussion and clinical trials. Also, folic acid intake is associated with a decreased risk of esophageal atresia, conotruncal heart disease, cleft palate, urinary tract malformations, and omphalocele, reduces the incidence of some behavioral anomalies, in particular, hyperactivity, the need for planning a pregnancy.

The management of complex exomphalos major is difficult, and traditional techniques fail to address the visceroabdominal disproportion in the most severe cases. Intra-abdominal tissue expansion is a novel technique and has been used in a small number of patients to safely increase the intra-abdominal volume and allow the reduction of viscera and subsequent closure of the abdominal domain. We review 7 published reports of this technique and add a case report describing our refinement of the technique. We propose that the use of multiple expanders placed in the intra-abdominal preperitoneal space, when expanded slowly, can allow safe reduction of viscera and immediate direct closure of the musculofascial layer of the abdomen.

The incidence of abdominal wall defects like gastroschisis and omphalocele are relatively rare. Gastroschisis occurs approximately in 2 to 3 births in every 5,000, and omphalocele occurs in fewer than 2 births in every 10,000. However, our Level III NICU was informed that we were going to receive 2 infants with gastroschisis and one infant with an omphalocele in the same year. Because of the infrequency of these defects, our novice NICU nurses expressed concern about their lack of exposure to and familiarity with these defects. It became apparent that a thorough review of the clinical care and emergency interventions was needed before the anticipated deliveries. The challenge, however, was to develop an innovative, interactive learning experience for the NICU nurse that would provide both a didactic review and hands-on education to care for these patients. We opted to employ simulation. Infant mannequins were used along with moulage to create realistic-looking loops of bowel, herniated bowel segments, and umbilical cord. Scenarios were created that covered the various unpredictable clinical directions these cases could take. These scenarios included the emergency equipment, maneuvers, and interventions that could be required for the anticipated deliveries. Ten sessions for each abdominal wall defect were held; 51 NICU nurses participated in each simulation. NICU nurses reported increased comfort and readiness to care for each infant.

Introduction Postoperative management of patients with the congenital growth disorder Beckwith-Wiedemann syndrome (BWS) can be complicated. The main clinical manifestations of the syndrome are macroglossia — which may hamper airway management —, prematurity, hemihypertrophy, omphalocele, embryonal tumours and episodes of neonatal hypoglycaemia. Objective Our main objective is to describe the perioperative management and potential anaesthetic complications in paediatric patients with BWS undergoing glossectomy. Methods Case report and literature review. Results We describe the case of an 11-month-old patient diagnosed with BWS who underwent reduction glossoplasty. We performed a comprehensive preoperative evaluation, taking into account potential anaesthetic complications derived from both macroglossia and prematurity, and the risk of hypoglycaemia. The procedure was performed under general anaesthesia. Intubation — performed according to difficult airway management algorithms — was uneventful and the patient was successfully extubated in the operating room. The patient remained stable during the postoperative period, with good respiratory dynamics, SatO2 > 96% and good glycaemic control. Oral intake was started 4 h after surgery, and she was discharged to the ward at 24 h. Conclusion BWS patients require a multimodal approach that includes detailed preoperative planning and knowledge of potential airway-related and systemic complications.

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%-32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization.

Folic acid (FA) can reduce the risk for selected birth defects other than neural tube defects. We examined whether FA has preventive effects against fetal abdominal wall defects (AWD) in a unique intervention cohort in China. Birth outcomes of 247 831 singleton births from a population-based cohort study with detailed pre-conceptional FA intake information were collected in China in 1993–1996. Information on births at 20 complete gestational weeks, including live births, stillbirths and pregnancy terminations, and all structural birth defects regardless of gestational week were recorded. The birth prevalence of omphalocele, gastroschisis and total fetal AWD was classified by maternal FA supplementation. The prevalence of total AWD was 4·30 per 10 000 births among women who took FA compared with 13·46 per 10 000 births among those who did not take FA in northern China and 6·28 and 5·18 per 10 000 births, respectively, in southern China. The prevalence of omphalocele was 0·54 per 10 000 births among women who took FA compared with 3·74 per 10 000 births among those who did not take FA in northern China and 1·79 and 1·44 per 10 000 births, respectively, in southern China. FA supplementation significantly prevented total AWD in multivariate analysis (relative risk 0·26, 95 % CI 0·11, 0·61) in northern China, although no preventive effect of FA on AWD was observed in southern China. FA supplementation successfully reduced the prevalence of AWD in northern China.

Omphalocele is a congenital malformation belonging to the group of abdominal wall defects. Objective. To determine the incidence of omphalocele and analyze its dynamics for the period 2011–2018 in the regions of the Russian Federation according to monitoring data of congenital anomalies. Materials and methods. Statistical analysis of omphalocele cases among newborns and fetuses with malformations for the period 2011–2018 in 22 regions of the Russian Federation was carried out. The incidence of malformations was calculated per 10,000 births. Results. A total of 1,073 cases of omphalocele were reported from 2011 to 2018, of which 69.34% were in fetuses eliminated due to the prenatal detection of malformation, 27.03% – in liveborn fetuses, and 3.63% – in stillborn fetuses. The male to female ratio was 1.56:1. The overall incidence of omphalocele was 2.95 (95% CI 2.77– 3.13) and the incidence among newborns excluding fetuses was 0.9 per 10,000 (95% CI 0.81– 1.01). There was a statistically significant positive time trend in the dynamics of the overall incidence of omphalocele between 2011 and 2018. Conclusion. The evaluation of the incidence of severe malformation – omphalocele – was obtained in different regions of the Russian Federation for the first time. The incidence of this malformation tended to increase over the study period. Male gender and maternal age over 35 years can be considered as risk factors. These results can be used in planning preventive measures. Key words: congenital malformation, monitoring, newborns, omphalocele, fetuses, incidence, epidemiology

PurposeSeveral studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD.MethodsAll male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes.ResultsWe identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele.ConclusionsCryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended.

Analyze the biometric parameters and the size (area) of abdominal wall defect (AWD) in fetuses with gastroschisis and omphaloceles and correlate them with the herniated internal organs. We studied 22 fetuses (11 with AWDs and 11 without anomalies). In all fetuses we evaluated the xiphopubic distance (XPD) and iliac crest distance (ICD). In fetuses with AWDs we dissected the abdominal wall and measured the width and length of the defect for calculating its area and studying the correlation between the size of the defect with the organs that were herniated. For statistical analysis, the Anova and Tukey post-test were used (p 2 = 0.2504, p = 0.5068). There is no correlation between the size (area) of abdominal wall defects and the number of the internal organs that herniated. Therefore, the hole size is not a predictor of the severity of the gastroschisis or omphalocele.

OBJECTIVE To assess the efficacy of positive feedback closed-loop management system (PFCMS) protocol in influencing parents' decision about pregnancy continuation in pregnancies diagnosed with omphalocele. METHODS This was a retrospective cohort study of patients who were diagnosed with fetal omphalocele prior to 20 weeks' gestation by ultrasound and were referred to Fetal Care Center at a mainland Chinese medical center during an 11-year period. Two management strategies were offered during the two stages of the study period: a single consultant with a routine protocol and a multidisciplinary support team with PFCMS, respectively. We analyzed the two protocols influencing parents' decision about pregnancy continuation. RESULTS Forty-nine patients diagnosed with fetal omphalocele were included in this study. In Group A including 16 patients with routine protocol during the first stage of the study period, the majority opted for termination, and only five continued the pregnancy. In Group B including 33 patients with PFCMS during the second stage of the study period, less than one third chose TOP, and 23 ended in live births. There was a significantly lower TOP rate in patients treated with the PFCMS protocol. CONCLUSION The PFCMS protocol may be an efficient approach in managing pregnancies complicated by omphalocele, which may help in preventing unnecessary pregnancy terminations.

Objective: Omphalocele is the ventral body wall maldevelopment. Early surgical interventions in the treatment of giant omphaloceles (GO) can increase morbidity and mortality. In this study, it was aimed to compare the advantages and disadvantages of primary closure, silo and vacuum assisted closure (VAC) methods used in omphalocele treatment. Materials and Methods: Three different treatment methods applied to 23 patients with giant omphalosis who were treated in our clinic between 2005 and 2020 were compared. Silo method was used in the treatment of 14 patients. Primary repair was performed in 7 patients. Mesh was used in 2 patients who underwent primary repair. The VAC was preferred for 2 patients. Treatments were discussed in terms of hospital stay, epithelization time, infections, and post-discharge problems. Results: Sepsis, ileus, gastroesophageal reflux and respiratory system problems were encountered after the silo method and primary repair, which are the classical methods of omphalocele treatment. VAC in technique, epithelization and healing were faster and only bilateral inguinal hernia developed as a complication. Conclusion: Minimizing complications with its effects that increase epithelization and prevent infection, VAC when other methods are considered in the treatment of giant omphalocele, it should be the first method that comes to mind., Amaç: Omfalosel karın ön duvar gelişim bozukluğudur. Silo yöntemi, cilt flepleri ve sentetik maddeler ile kapama tedavi seçenekleridir. Erken dönemde uygulanan cerrahi tedavilerin morbidite ve mortalitesindeki yükseklik dev omfalosellere yaklaşımda cerrahi dışı teknikleri ön plana çıkarmaktadır. Bu çalışmada omfalosel tedavisinde kullanılan primer kapatma, silo ve vakum yardımlı kapatma (VAC) yöntemlerinin avantaj ve dezavantajları karşılaştırılması amaçlanmıştır. Materyal ve Metot: 2005- 2020 yılları arasında kliniğimizde tedavi edilen dev omfalosel tanılı 23 hastaya uygulanan 3 farklı tedavi yöntemi karşılaştırıldı. 14 hastaya tedavide silo yöntemi kullanıldı. 7 hastaya primer onarım yapıldı. Birincil kapama yapılan 2 hastaya meş kullanıldı. 2 hasta için ise VDK sistemi tercih edildi. Tedaviler hastanede kalış süresi, epitelizasyon süresi, enfeksiyonlar ve taburculuk sonrası sorunlar açısından tartışıldı. Bulgular: Omfalosel tedavisinde klasik yöntemler olan silo yöntemi ve primer onarım sonrasında sepsis, ileus, gastroözefageal reflü ve solunum sistemi sorunları ile karşılaşıldı. VDK tekniğinde, epitelizasyon ve iyileşme daha hızlı idi ve komplikasyon olarak sadece bilateral inguinal herni gelişti. Sonuç: Diğer klasik yöntemlere göre epitelizasyonu hızlandırıcı ve enfeksiyonlardan koruyucu etkisi ile kısa dönemde iyileşmeyi sağlayan ve komplikasyonları en aza indiren VDK sistemi, dev omfalosellerin tedavisinde ilk tercih edilebilecek yöntemler arasında akla gelmelidir.

Gastroschisis and omphalocele are the most common congenital malformations of the abdominal wall that required surgical correction. Despite of the long history of the gastroschisis’ study, there is no generally accepted theory of the pathogenesis of this malformation. There are numerous theories of the pathogenesis of gastroschisis discussed in the modern literature: disorders of differentiation of embrionic mesenchyme as the result of teratogenic influence on the early stages of the embryonic development; rupture of amniotic membrane at the base of the umbilical cord; vascular disorders during of the embryonic development; disorders of the yolk-sac escape. Each of existing theories has its supporters and opponents. It is no generally accepted theory of the pathogenesis of gastroschisis. Most likely is the rupture of physiological hernia along the umbilical cord in its pars flaccid, with the subsequent elongation of the midgut out of the abdominal cavity with the vascular compression, especially of venous and lymphatic vessels. Narrow mesenteric root and narrow-sized defect may contribute to various complications that jeopardize the ultimate prognosis. Further studies are needed to finalize the pathogenesis of gastroschisis. No conflict of interest was declared by the author. Key words: gastroschisis, pathogenesis, vascular disorders, embryonic disorders.

Background: Congenital anomalies make an important contribution to infant mortality and they remain a leading cause of death in many countries of the world. Many babies also died in our country due to congenital anomalies. Methods: This retrospective cross-sectional study was conducted at the Departments of Obstetrics and Gynecology of CMCH between October 2016 to March 2017. Objective of the study was to find out the risk factors of non-cardiac congenital anomaly of fetus. The study population of those women who delivered a baby with different non-cardiac congenital anomalies admitted in Departments of Obstetrics and Gynecology of CMCH. Results: The mean maternal age was found 26.6±5.6 years and the mean paternal age was found 35.8±7.9 years. 28 (28.0%) patients had hydrocephalus, 25 (25.0%) had Anencephaly, 7 (7.0%) had Omphalocele, 7 (7.0%) had Hydrops fetalis, 6 (6.0%) had cleft lip, 6 (6.0%) had cleft palate, 4 (4.0%) had cleft lip and cleft palate. 20 (20.0%) patients had consanguinity, history of high-grade fever with rash in first trimester was 12 (12.0%). 16(16.0%) was diabetes mellitus. Majority (63.0%) patients belonged to gestational age 16-28 weeks. The mean gestational age was found 29.5±7.1 weeks with ranged from 16 to 42 weeks. Majority (89.0%) were singleton pregnancy. 60% reveal congenital anomaly in USG. Conclusion: Risk factors of non-cardiac congenital anomalies were consanguinity, maternal obesity, high grade fever with rash in first trimester due to viral infection, diabetes mellitus (uncontrolled), uncontrolled gestational diabetes mellitus, previous birth defect, inadequate intake of folic acid in first trimester, blood group Rh negative, male baby. Hydrocephalus and anencephaly were the most common congenital anomalies. Cardiovasc. j. 2020; 13(1): 40-45

Introduction Congenital disorders of glycosylation (CDG) are inborn errors of glycan metabolism with high clinical variability. Only a few antenatal cases have been described with CDG. Due to a lack of reliable biomarker, prenatal CDG diagnostics relies primarily on molecular studies. In the presence of variants of uncertain significance prenatal glycosylation studies are very challenging. Case report A consanguineous couple had a history of second-trimester fetal demise with tetralogy of Fallot and skeletal dysplasia. In the consecutive pregnancy, the second trimester ultrasonography showed skeletal dysplasia, vermian hypoplasia, congenital heart defects, omphalocele and dysmorphic features. Prenatal chromosomal microarray revealed a large region of loss of heterozygosity. Demise occurred at 30 weeks. Fetal whole exome sequencing showed a novel homozygous likely pathogenic variant in ALG3 and a variant of uncertain significance in COG5. Methods Western blot was used to quantify ALG3, COG5, COG6, and the glycosylation markers ICAM-1 and LAMP2. RT-qPCR was used for ALG3 and COG5 expression in cultured amniocytes and compared to age matched controls. Results ALG3 and COG5 mRNA levels were normal. ICAM-1, LAMP2, ALG3 and COG5 levels were decreased in cultured amniocytes, suggesting the possible involvement of both genes in the complex phenotype. Conclusion This is the first case of successful use of glycosylated biomarkers in amniocytes, providing further options of functional antenatal testing in CDG.

Abdominal wall defects (AWDs) represent a wide spectrum of congenital anomalies which are characterized by a herniation of abdominal organs through a pathologic opening in the abdominal region. The author describes a 29-year-old pregnant woman who was prenatally found to have a living female fetus with a giant omphalocele and a spinal deformation in the lumbosacral region. An evisceration of the abdominal contents into the amnionic cavity was visible. Based on USG findings the limb-body wall complex was suggested. An amniocentesis was performed and a genetic testing identified a chromosome 17q23.1–q23.2 duplication. As the fetal anomaly was considered incompatible with life, a medical termination of the pregnancy was carried out. Postmortem examination of the fetus revealed a huge abdominoschisis with a complete evisceration of the liver, stomach, small and large intestines, spleen, and the right kidney. A severe left-sided scoliosis deformity of the spine with crooked trunk was evident. The gross findings shared the features of omphalocele and limb-body wall complex with no postnatal life expectancy. Most fetal AWDs have poor prognosis. The pathology of these conditions differ greatly and require specific prenatal evaluation and pregnancy management for each entity. Accurate assessment of AWDs will allow the identification of isolated forms with better clinical outcomes compared to associated multiple malformations with chromosomal anomalies or genetic syndromes.

INTRODUCCION: La pentalogia de Cantrell abarca la presencia de cinco defectos congenitos que representan un gran desafio para los cirujanos. Las anomalias del corazon, pericardio, diafragma, esternon y pared abdominal anterior son los hallazgos principales. Su incidencia es baja, sin embargo, es fundamental identificarla oportunamente para adoptar una terapia adecuada para todos los defectos descritos, puesto que se reporta una mortalidad elevada. CASO CLINICO: Se trato de un recien nacido a termino, de sexo masculino, con antecedentes de defecto de la pared abdominal compatible con onfalocele detectado mediante ecografia prenatal. Tras cesarea programada, se evidencio defecto en la pared abdominal a traves del cual emergian el lobulo hepatico izquierdo, intestinos y corazon; el esternon ademas presentaba una fisura baja. En ecocardiograma se evidencio foramen oval permeable, insuficiencia tricuspidea leve e hipertension pulmonar severa. EVOLUCION: Se decidio su manejo quirurgico inmediato. Se coloco silo, con cierre progresivo de la linea media en 7 dias. En segundo tiempo quirurgico, se corrigio el defecto diafragmatico y pericardico con protesis de pericardio bovino. Pese a la evolucion adecuada de la cirugia, a los 28 dias, el paciente presento cianosis subita, sin responder a maniobras de reanimacion y fallecio. CONCLUSION: La Pentalogia de Cantrell es una enfermedad rara, con caracteristicas clinicas, anatomicas y embriologicas peculiares, representa un desafio unico para los cirujanos. Su diagnostico temprano, asi como el seguimiento durante el embarazo, la planificacion de una cesarea en un centro de alto nivel y la aproximacion quirurgica inmediata con un equipo multidisciplinario, son componentes clave en el manejo integral de pacientes con Pentalogia de Cantrell. ABSTRACT Case Report: Two-stage surgical resolution of Cantrell’s Pentalogy. BACKGROUND: Cantrell’s pentalogy includes the presence of five birth defects that represent a great challenge for surgeons. Abnormalities of the heart, pericardium, diaphragm, sternumand anterior abdominal wall are the main findings. Its incidence is low, however, it is essential to identify Cantrell´s pentalogy timely to adopt an adequate therapy for all specific defects, since it has high mortality. CASE REPORT: The patient was a full- term male newborn, with a history of abdominal wall defect compatible with an omphalocele detected by prenatal ultrasound. After the caesarean section, the abdominal wall defect was notable, the left liver lobe, intestines and heart emerged through it, the sternum also had a low fissure. The echocardiogram revealed a permeable oval foramen, mild tricuspid regurgitation, and severe pulmonary hypertension. EVOLUTION: Immediate surgical management was decided. Silo was placed, with progressive closure of the midline in 7 days. During the second surgical procedure, the diaphragmatic and pericardial defect was corrected with a bovine pericardial prosthesis. Despite the adequate evolution after surgery, at day 28 he presented with sudden cyanosis and didn’t respond to cardiopulmonary resuscitation and died. CONCLUSIONS: Cantrell’s Pentalogy is a rare disease, with peculiar clinical, anatomical and embryological characteristics, it represents a unique challenge for surgeons. Early diagnosis, as well as follow-up during pregnancy, planning a cesarean section in a high-level center and immediate surgical approach with a multidisciplinary team, are the key components in the management of patients with Cantrell’s Pentalogy.

Purpose. Presentation of clinical cases of rare combination of omphalocele with pylorostenosis in the postoperative period and additional liver lobe. Materials and methods. In National Medical Research Center for Childrens Health of health surgical ward of newborns and infants for the 2019 us operated 2 children who performed surgery involving intra-operative decision making about further surgical tactics. Results. the results of surgical treatment of newborns with omphalocele combined with hypertrophic pylorostenosis and extra liver lobe are presented. Conclusions. In patients with malformations of the anterior abdominal wall in the postoperative period, when regurgitation syndrome appears, it is necessary to make a differential diagnosis between the functional and organic causes of obstruction. When confirming the organic nature of the obstruction, surgical intervention is indicated. It is necessary to be able to timely and objectively assess the risks and expediency of the approach when choosing surgical tactics in each individual case.

Summary Introduction Prenatal determination of bladder exstrophy (BE) or cloacal exstrophy (CE), known also as the omphalocele-exstrophy-imperforate anus-spinal anomaly complex (OEIS), is challenging. Distinguishing between BE and CE is important because children with CE have many more challenges initially and during their lifetime. An accurate diagnosis is critical when counselling expectant parents. We hypothesized that there are key imaging features that can distinguish BE from CE, and that there are areas of diagnostic concordance and discordance between fetal ultrasound (fUS) and fetal MRI (fMRI) among these entities. Materials and methods We queried a single institutional IRB-approved registry of children with BE and CE to identify those with accessible fetal imaging from 2000 to 2018, and formal interpretations were collected. Two pediatric radiologists performed independent retrospective blinded review of the images. Criteria evaluated included: genitalia, kidneys, bowel appearance, presence of anal dimple, location of insertion of umbilical cord into the abdomen relative to the abdominal wall defect, umbilical vessels, bladder protuberance, presence of omphalocele, and spine/neural cord abnormalities. We evaluated concordance between radiologic interpretations and postnatal diagnosis, as well as between specific findings in the two diagnostic modalities. Results Twenty-one infants born between 2000 and 2018 with BE or CE had fetal imaging for review: 15 had both fUS and fMRI, 2 had fUS alone, and 4 fMRI alone. There was 100% concordance between fUS and fMRI in evaluating kidneys, presence of anal dimple, location of abdominal insertion of umbilical cord relative to the defect, number of umbilical vessels, and spine abnormalities/level of neural cord termination. The following discrepancies were observed: 1) genitalia and bowel appearance, and bladder protuberance in 1/15 (6.7%); 2) presence of an omphalocele in 2/15 (13.3%). Of the initial radiologic interpretations, 4/17 (23.5%) of fUS and 2/19 (10.5%) of fMRI erroneously were interpreted as on the OEIS spectrum when the post-natal diagnosis was BE. Errors in diagnosis were due to a protuberant bladder plate extending beyond the plane of the abdominal wall with bowel loops posteriorly mimicking an omphalocele. In all of these BE cases, the abdominal wall defect was located inferior to the umbilical cord insertion on the abdominal wall. Conclusion An everting bladder plate with bowel loops posterior to the plate in classic BE may be misdiagnosed as CE. Identification of the location of umbilical cord insertion relative to the abdominal wall defect, with fetal US or MRI, results in the correct differentiation between BE and CE. Download : Download high-res image (350KB) Download : Download full-size image Summary Figure . T2 sagittal images of fetal MRI (a&b) and fetal US (c&d) in a patient with BE demonstrating: a&c) insertion of umbilical cord (long arrows) superior to a defect (short arrows), b&d) protuberant bladder plate with bowel posterior to it (short arrows), (in d, abdomen and thorax highlighted by white circle, protuberance outlined in yellow, and umbilical cord highlighted in red) and e) post-natal appearance of male with BE and large protruding bladder.

There has been substantial controversy regarding treatment of congenital heart defects in infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus expectant treatment, and rarely there has been an effort to consolidate existing evidence into a more coherent way to help clinicians with decision-making and counseling families. An extensive review of the existing literature on cardiac surgery in patients with these trisomies was conducted from 2004 to 2020. The effects of preoperative and perioperative factors on in-hospital and long-term mortality were analyzed, as well as possible predictors for postoperative chronic care needs such as tracheostomy and gastrostomy. Patients with minimal or no preoperative pulmonary hypertension and mechanical ventilation undergoing corrective surgery at a weight greater than 2.5 kg suffer from lower postoperative mortality. Infants with lower-complexity cardiac defects are likely to benefit the most from surgery, although their expected mortality is higher than that of infants without trisomy. Omphalocele confers an increased mortality risk regardless of cardiac surgery. Gastrointestinal comorbidities increased the risk of gastrostomy tube placement, while those with prolonged mechanical ventilation and respiratory comorbidities are more likely to require tracheostomy. Cardiac surgery is feasible in children with trisomies 13 and 18 and can provide improved long-term results. However, this is a clinically complex population, and both physicians and caretakers should be aware of the long-term challenges these patients face following surgery when discussing treatment options.

A study of the prevalence rates for selected isolated non-Mendelian congenital anomalies in the Hutterite Brethren of Alberta, Canada was undertaken to further examine longitudinal data in this isolated community that was last reported in 1985 (Lowry et al., 1985), although there are numerous publications on recessive disorders (Boycott et al., 2008; Triggs-Raine et al., 2016). Cases were ascertained from the Alberta Congenital Anomaly Surveillance System for the years 1997-2016. Since our initial results showed some surprising findings in the Hutterite Brethren, such as zero cases of spina bifida, cleft lip and palate, gastroschisis, and omphalocele, and a significant excess of cases with hypospadias, we extended the study to prior years (1980-1996) for selected anomalies. For the extended study period (1980-2016), there was a significant increased prevalence of hypospadias, tetralogy of Fallot and tricuspid atresia in the Hutterite population, and although not statistically significant, zero cases of cleft lip with cleft palate, gastroschisis and omphalocele were confirmed. Further research is needed to determine the precise effects of rural environmental exposures, lifestyle factors, and genetic associations for selected multifactorial congenital anomalies.

Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a syndromic condition suggest distinct etiologies between the two defects. We assessed complex patterns of defect co-occurrence with these defects separately using the Texas Birth Defects Registry. We used co-occurring defect analysis (CODA) to compute adjusted observed-to-expected (O/E) ratios for all observed birth defect patterns. There were 2,998 non-syndromic (i.e., no documented syndrome diagnosis identified) cases with gastroschisis and 789 (26%) of these had additional co-occurring defects. There were 720 non-syndromic cases with omphalocele, and 404 (56%) had additional co-occurring defects. Among the top 30 adjusted O/E ratios for gastroschisis, most of the co-occurring defects were related to the gastrointestinal system, though cardiovascular and kidney anomalies were also present. Several of the top 30 combinations co-occurring with omphalocele appeared suggestive of OEIS (omphalocele, exstrophy of cloaca, imperforate anus, spinal defects) complex. After the exclusion of additional cases with features suggestive of OEIS in a post-hoc sensitivity analysis, the top combinations involving defects associated with OEIS (e.g., spina bifida) were no longer present. The remaining top combinations involving omphalocele included cardiovascular, gastrointestinal, and urogenital defects. In summary, we identified complex patterns of defects that co-occurred more frequently than expected with gastroschisis and omphalocele using a novel software platform. Better understanding differences in the patterns between gastroschisis and omphalocele could lead to additional etiologic insights.

BACKGROUND Neonates with abdominal wall defects are at an increased infection risk because of the defect itself and prolonged neonatal intensive care unit (NICU) stays. Antibiotic prophylaxis until closure of the defect is common. However, infection risk and antibiotic use have not been well quantified in these infants. METHODS A retrospective cohort study of infants with abdominal wall defects (gastroschisis and omphalocele) admitted to a single-center NICU from 2007 to 2018. Demographic and clinical information, including microbiologic studies, antibiotic dosing and surgical care, were collected. Antibiotic use was quantified using days of therapy (DOT) per 1000 patient-days. Sepsis was defined as culture of a pathogen from a normally sterile site. RESULTS Seventy-four infants were included; 64 (86%) with gastroschisis and 10 (14%) with omphalocele. Median day of closure was 8 days [interquartile range (IQR) 6-10, range 0-31]. All infants received ≥1 course of antibiotics; median antibiotic DOT/infant was 24.5 (IQR 18-36) for an average of 416.5 DOT per 1000 patient-days. Most antibiotic use was preclosure prophylaxis (44%) and treatment of small intestinal bowel overgrowth (24%). Suspected and proven infection accounted for 26% of all antibiotic use. Skin and soft tissue infection (13/74, 18%) and late-onset sepsis (11/74, 15%) were the most common infections; 2 infants had sepsis while on antibiotic prophylaxis. All infants survived to discharge. CONCLUSIONS Most antibiotic use among infants with abdominal wall defects was prophylactic. Infection on prophylaxis was rare, but 35% of infants had infection after prophylaxis. Improved stewardship strategies are needed for these high-risk infants.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.

Omphalocele is a congenital malformation of the abdominal wall consisting of a protrusion of the abdominal contents at the base of the umbilical cord. It has a high association with genetic and structural defects; however, if the latter is ruled out, its prognosis improves significantly. Prenatal diagnosis has a key role in this condition as omphalocele can be diagnosed by ultrasound in the first trimester scan, enabling a coordinated approach strategy to achieve the best perinatal results. We present a case report of a pregnant patient with a fetus having a giant omphalocele in which prenatal diagnosis played a decisive role, allowing the coordination of a multidisciplinary team, which was crucial in the immediate care of the newborn.

Purpose: In order to achieve the Sustainable Development Goal (SDG) 3 target of reduction in under-five mortality below 25 per thousand live birth by the year of 2030, major reductions are going to be required in neonatal mortality. Congenital anomalies have become the fourth cause of neonatal deaths and most of these are curable. The largest public hospital of Bangladesh is serving the poor and lower middle class people where surgery and medical facilities are mostly free of cost. This study was done to see the types of neonatal surgical patients admitted in this hospital and their management out come with limited facilities and find out some new ideas and information and the ways to improve the scenario to contribute in achieving the SDG 3. Materials & Methods: This was a descriptive study with retrospective record review of all admitted neonates done over a period of 17 years from July 2001 to June 2018 and carried out in the Department of Pediatric Surgery. A total of 2492 neonates were admitted during this period and it was the 16.16% of total number of 15414 pediatric surgical admission upto12 years of age. Data was collected from hospital records and analyzed retrospectively. Detail history of each patient was collected and recorded in a pre-designed, semi-structured questionnaire. Statistical assessments were done by SPSS version 22. An Ethical clearance had been sought. Results: Out of these 2492 neonates, 1932 (77.53%) were admitted for Neonatal Intestinal Obstruction (NIO) and Intestinal atresia 246 (09.87%), Omphalocele 163 (06.54%), Meconium ileus 154 (06.18%), Volvulous neonatoram 125 (05.02%), Septicemia 114 (04.57%), Posterior urethral valve 78 (03.13%), Gastroschisis 75 (03.01%), Abscess 57 (02.29%), Congenital Diaphragmatic Hernia 54 (02.17%), Ectopia vesicae 50 (02.01%), Infantile pyloric stenosis 42 (01.68%), Tracheo-oesophageal fistula 24 (0.96%), Prune belly syndrome 8 (0.32%), Neonatal injury 5 (0.20%), Conjoint twin 4 (0.16%). The most common cause of NIO was anorectal malformation (ARM) 806 (32.34%). Among them 516 (64.02%) patients had high variety and 290 (35.98%) patients had low variety ARM. Next was Hirschsprungs disease and 487 (19.54%) neonates presented with this. One hundred and forteen (4.57%) patients presented with septicemia and 246 (9.87%) presented with intestinal atresia, 154 (6.18%) neonates had meconium ileus and 125 (5.02%) patients presented with volvulus neonatorum. Total 1791 (71.86%) patients were managed surgically. Most of the surgerical procedures were pelvic colostomy 541 (21.71%), transverse colostomy and biopsies 376 (15.09%), resection and anastomosis 261(10.47%), anoplasty 239 (9.59%), primary repair 135 (5.42%) and ileostomy 104(4.17%). Out of 2492 patients, 351 died, so mortality was 14.09%, before surgery 127 (5.10%) and after surgery was 224 (14.85%). Conclusion: Pediatric surgeons by their skill and teamwork greatly improved the neonatal surgical service and contributing significantly in reducing infant mortality rate to achieve SDG 3. But to improve further, neonatal intensive care unit (NICU) and other support systems are essential as well as support from UNICEF and World Health Organization (WHO) to include pediatric surgery and surgeons in their activities especially in developing countries. Due to socio-political and economic reasons of the developing countries the roll of pediatric surgeons are multidimensional. Bangladesh Med Res Counc Bull 2020; 46(1): 05-11

The 2 most common congenital abdominal wall defects are gastroschisis and omphalocele. Both are usually diagnosed prenatally with fetal ultrasonography, and affected patients are treated at a center with access to high-risk obstetric services, neonatology, and pediatric surgery. The main distinguishing features between the 2 are that gastroschisis has no sac and the defect is to the right of the umbilicus, whereas an omphalocele typically has a sac and the defect is at the umbilicus. In addition, patients with an omphalocele have a high prevalence of associated anomalies, whereas those with gastroschisis have a higher likelihood of abnormalities related to the gastrointestinal tract, with the most common being intestinal atresia. As such, the prognosis in patients with omphalocele is primarily affected by the severity and number of other anomalies and the prognosis for gastroschisis is correlated with the amount and function of the bowel. Because of these distinctions, these defects have different management strategies and outcomes. The goal of surgical treatment for both conditions consists of reduction of the abdominal viscera and closure of the abdominal wall defect; primary closure or a variety of staged approaches can be used without injury to the intra-abdominal contents through direct injury or increased intra-abdominal pressure, or abdominal compartment syndrome. Overall, the long-term outcome is generally good. The ability to stratify patients, particularly those with gastroschisis, based on risk factors for higher morbidity would potentially improve counseling and outcomes.

The review of topical issues of diagnostics and treatment of malformation of the anterior abdominal wall - omphalocele in newborns is presented. Currently, there are no specific, recognized criteria acceptable for the maintaining and further managing pregnancy, delivery and treatment of children with omphalocele. Prenatally, the possibility of predicting the tactics of surgical treatment and postoperative management of a newborn with omphalocele is not taken into account. In the choice of tactics of treatment of this category of patients there is a need to consider many factors, namely: the data for the antenatal diagnosis of the defect, duration of respiratory support at the stage of preparation for surgery, age at the time of surgical treatment, the size of the hernia SAC, and the size of the liver in the hernia SAC. These criteria are necessary to determine the possibility of radical surgery for the anterior abdominal wall or stage-by-stage treatment with the creation of a temporary abdominal cavity, with preliminary gradual immersion of the evented organs into the abdominal cavity under the control of the child’s hemodynamic and respiratory parameters, with the dynamic control of the occurrence and progression of pulmonary hypertension under the ultrasound control. To date, a unified approach has not been developed in the surgical treatment and postoperative care of newborns with omphalocele. The use of a variety of methods of surgical correction and their modifications reveals extensive potential for the treatment of different form of exomphalos, but leads to the fact that some of these techniques find their applications in a single universally accepted treatment of this condition. The lack of unified standards of prevention and organization of treatment approaches for newborns with various forms of omphalocele makes this problem very relevant. When preparing a literary review, such databases as PubMed, MedLine, CyberLeninka, and RSCI were used.

Chatron et al. describe a novel syndrome caused by bi-allelic loss-of-function mutations in GAD1, the gene encoding the GABA synthetic enzyme GAD67. The syndrome is characterized by the unique association of developmental and epileptic encephalopathy, cleft palate, joint contractures and/or omphalocele., Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1−/− mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.

BACKGROUND: Risk factors for birth defects are frequently investigated using data limited to liveborn infants. By conditioning on survival, results of such studies may be distorted by selection bias, also described as “live birth bias”. However, the implications of live birth bias on risk estimation remain poorly understood. OBJECTIVES: We sought to quantify live birth bias and to investigate the conditions under which it arose. METHODS: We used data on 3,994 birth defects cases and 11,829 controls enrolled in the National Birth Defects Prevention Study to compare odds ratio (OR) estimates of the relationship between three established risk factors (antiepileptic drug use, smoking, and multifetal pregnancy) and four birth defects (anencephaly, spina bifida, omphalocele, and cleft palate) when restricted to live births as compared to among live births, stillbirths, and elective terminations. Exposures and birth defects represented varying strengths of association with live birth; all controls were liveborn. We performed a quantitative bias analysis to evaluate the sensitivity of our results to excluding terminated and stillborn controls. RESULTS: Cases ranged from 33% live born (anencephaly) to 99% (cleft palate). Smoking and multifetal pregnancy were associated with live birth among anencephaly (crude OR [cOR] 0.61 and cOR 3.15, respectively) and omphalocele cases (cOR 2.22 and cOR 5.22, respectively). For analyses of the association between exposures and birth defects, restricting to live births produced negligible differences in estimates except for anencephaly and multifetal pregnancy, which was two-fold higher among live births (adjusted OR [aOR] 4.93) as among all pregnancy outcomes (aOR 2.44). Within tested scenarios, bias analyses suggested that results were not sensitive to the restriction to liveborn controls. CONCLUSIONS: Selection bias was generally limited except for high mortality defects in the context of exposures strongly associated with livebirth. Findings indicate that substantial live birth bias is unlikely to affect studies of risk factors for most birth defects.