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LaeknabladidGastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated...
INTRODUCTION
Gastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated anomalies and the course of these diseases in Iceland.
MATERIAL AND METHODS
The study was retrospective. The population was all newborns who were admitted to the NICU of Children's Hospital Iceland due to gastroschisis or omphalocele in 1991-2020. Furthermore, all fetuses diagnosed prenatally or post mortem where the pregnancy ended in spontaneous or induced abortion, were included.
RESULTS
During the study period, 54 infants were born with gastroschisis and five with omphalocele. The incidence of gastroschisis was 4.11 and omphalocele 0,38/10,000 births. There was no significant change in the incidence of the diseases during the study period. In addition, five fetuses were diagnosed with gastroschisis and 31 with omphalocele where the pregnancy was terminated. In addition to gastroschisis in the live born infants and fetuses the most common associated anomalies were in the gastrointestinal or urinary tract but in infants and fetuses with omphalocele anomalies of the cardiac, central nervous or skeletal systems were the most common. Sixteen fetuses diagnosed with omphalocele had trisomy 18. Mothers aged 16-20 were more likely to give birth to an infant with gastroschisis than older mothers (p< 0.001). Primary closure was successful in 86% of the infants. Those reached full feedings significantly earlier and were discharged earlier. Overall survival rate was 95%. Three children were still receiving parenteral nutrition at discharge due to short bowel syndrome.
CONCLUSIONS
The incidence of gastroschisis in Iceland is in accordance with studies in other countries but but the incidence of omphalocele is lower, which can be partly explained by spontaneous or induced abortions. Other anomalies associated with omphalocele are more severe than those associated with gastroschisis. Primary closure was associated with more benign course. Children with gastroschisis may need prolonged parenteral nutrition due to shortening of their intestines.
Topics: Pregnancy; Infant; Female; Child; Infant, Newborn; Humans; Gastroschisis; Hernia, Umbilical; Retrospective Studies; Incidence; Prenatal Diagnosis
PubMed: 38420959
DOI: 10.17992/lbl.2024.03.785 -
Cureus Oct 2023Congenital abdominal wall abnormalities in infants present an interesting and difficult management problem for surgeons. Congenital malformations of the ventral... (Review)
Review
Congenital abdominal wall abnormalities in infants present an interesting and difficult management problem for surgeons. Congenital malformations of the ventral abdominal wall can be diagnosed by their distinctive anatomical presentations. Among them, omphalocele, gastroschisis and umbilical cord hernias are the most frequently observed clinically detected abdominal wall anomalies. Omphalocele refers to the herniation of abdominal contents through a defect in the abdominal wall at the umbilicus with or without the presence of a sac. This article gives an insight into the embryology, risk factors, treatment, investigations and complications of omphalocele, a common congenital abdominal wall defect. There is minimal proof that environmental factors contribute to the development of omphalocele. However, there is a considerable amount of evidence which points to the importance of genetic or familial risk factors. Newborns and infants with prenatal diagnoses are the most frequently presenting patients with omphalocele to paediatric surgeons. This article describes the problems and the steps of management for handling each circumstance, as well as any further complications. Omphalocele and gastroschisis are frequently described together in many research papers. However, it's crucial to consider that they are two different conditions which vary in anatomy, pathology and associated conditions which account for the difference in their treatments and noticeably varied outcomes. Additionally, there is evidence that each has a different set of factors associated with risk for occurrence. There are no known etiologic causes that cause these abnormalities to develop. The size of the baby, the extent of the lesion, and any other disorders all affect how individuals with these congenital abdominal wall anomalies are treated.
PubMed: 38021990
DOI: 10.7759/cureus.47638 -
BJS Open May 2024Umbilical hernias, while frequently asymptomatic, may become acutely symptomatic, strangulated or obstructed, and require emergency treatment. Robust evidence is... (Review)
Review
BACKGROUND
Umbilical hernias, while frequently asymptomatic, may become acutely symptomatic, strangulated or obstructed, and require emergency treatment. Robust evidence is required for high-quality care in this field. This scoping review aims to elucidate evidence gaps regarding emergency care of umbilical hernias.
METHODS
EMBASE, MEDLINE and CENTRAL databases were searched using a predefined strategy until November 2023. Primary research studies reporting on any aspect of emergency umbilical hernia care and published in the English language were eligible for inclusion. Studies were excluded where emergency umbilical hernia care was not the primary focus and subsets of relevant data were unable to be extracted. Two independent reviewers screened abstracts and full texts, resolving disagreements by consensus or a third reviewer. Data were charted according to core concepts addressed by each study and a narrative synthesis was performed.
RESULTS
Searches generated 534 abstracts, from which 32 full texts were assessed and 14 included in the final review. This encompassed 52 042 patients undergoing emergency umbilical hernia care. Most were retrospective cohort designs (11/14), split between single (6/14) and multicentre (8/14) with only one randomized trial. Most multicentre studies were from national databases (7/8). Themes arising included risk assessment (n = 4), timing of surgery (n = 4), investigations (n = 1), repair method (n = 8, four mesh versus suture; four laparoscopic versus open) and operative outcomes (n = 11). The most commonly reported outcomes were mortality (n = 9) and morbidity (n = 7) rates and length of hospital stay (n = 5). No studies included patient-reported outcomes specific to emergency umbilical hernia repair.
CONCLUSION
This scoping review demonstrates the paucity of high-quality data for this condition. There is a need for randomized trials addressing all aspects of emergency umbilical hernia repair, with patient-reported outcomes.
Topics: Humans; Hernia, Umbilical; Herniorrhaphy; Emergencies
PubMed: 38898709
DOI: 10.1093/bjsopen/zrae068 -
BMC Pregnancy and Childbirth Sep 2023Patients 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...
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.
Topics: Pregnancy; Child; Humans; Female; Hernia, Umbilical; Prenatal Care; China; Family; Amniotic Fluid
PubMed: 37726736
DOI: 10.1186/s12884-023-05999-3 -
PLoS Biology Dec 2023Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights...
Ciliopathies are associated with wide spectrum of structural birth defects (SBDs), indicating important roles for cilia in development. Here, we provide novel insights into the temporospatial requirement for cilia in SBDs arising from deficiency in Ift140, an intraflagellar transport (IFT) protein regulating ciliogenesis. Ift140-deficient mice exhibit cilia defects accompanied by wide spectrum of SBDs including macrostomia (craniofacial defects), exencephaly, body wall defects, tracheoesophageal fistula (TEF), randomized heart looping, congenital heart defects (CHDs), lung hypoplasia, renal anomalies, and polydactyly. Tamoxifen inducible CAGGCre-ER deletion of a floxed Ift140 allele between E5.5 to 9.5 revealed early requirement for Ift140 in left-right heart looping regulation, mid to late requirement for cardiac outflow septation and alignment, and late requirement for craniofacial development and body wall closure. Surprisingly, CHD were not observed with 4 Cre drivers targeting different lineages essential for heart development, but craniofacial defects and omphalocele were observed with Wnt1-Cre targeting neural crest and Tbx18-Cre targeting epicardial lineage and rostral sclerotome through which trunk neural crest cells migrate. These findings revealed cell autonomous role of cilia in cranial/trunk neural crest-mediated craniofacial and body wall closure defects, while non-cell autonomous multi-lineage interactions underlie CHD pathogenesis, revealing unexpected developmental complexity for CHD associated with ciliopathies.
Topics: Animals; Mice; Cilia; Heart Defects, Congenital; Embryonic Development; Carrier Proteins; Skull; Ciliopathies
PubMed: 38079449
DOI: 10.1371/journal.pbio.3002425 -
Journal of the American College of... Dec 2023
PubMed: 38045016
DOI: 10.1002/emp2.13078