-
Prenatal Diagnosis Mar 2021An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance... (Review)
Review
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.
Topics: Female; Hernia, Umbilical; Humans; Infant, Newborn; Magnetic Resonance Imaging; Parents; Pregnancy; Prenatal Diagnosis; Professional-Patient Relations; Truth Disclosure
PubMed: 33540475
DOI: 10.1002/pd.5886 -
Seminars in Pediatric Surgery Apr 2019Omphalocele (exomphalos) is one of the most common abdominal wall defects. The size of the defect and the severity of the associated anomalies determine the overall... (Review)
Review
Omphalocele (exomphalos) is one of the most common abdominal wall defects. The size of the defect and the severity of the associated anomalies determine the overall morbidity and mortality. Routine prenatal screening and diagnosis of the abdominal wall defect and concurrent anomalies is important as it allows for effective prenatal counseling and optimal perinatal management. The purpose of this article is to discuss the approach to prenatal diagnosis and management of omphalocele.
Topics: Female; Hernia, Umbilical; Humans; Infant, Newborn; Perinatal Care; Pregnancy; Prenatal Diagnosis; Prognosis
PubMed: 31072463
DOI: 10.1053/j.sempedsurg.2019.04.007 -
Seminars in Pediatric Surgery Apr 2019Omphalocele is an abdominal wall defect which can be classified as small, giant, or ruptured. Ruptured omphaloceles require prompt diagnosis and management to prevent... (Review)
Review
Omphalocele is an abdominal wall defect which can be classified as small, giant, or ruptured. Ruptured omphaloceles require prompt diagnosis and management to prevent associated morbidity and mortality and represent a challenging surgical condition. This review serves to define the etiology, diagnosis, initial resuscitation, and surgical therapy employed in the treatment of ruptured omphalocele. Resuscitation should focus on maintaining hydration and normothermia. Broad spectrum antibiotics should be initiated. Similar to giant omphaloceles, procedural intervention includes primary closure, silo, synthetic and biologic mesh, negative pressure wound therapy, and topical agents. Despite advances in neonatal care, the prognosis remains guarded and mortality is high.
Topics: Anti-Bacterial Agents; Combined Modality Therapy; Hernia, Umbilical; Herniorrhaphy; Humans; Infant, Newborn; Negative-Pressure Wound Therapy; Prognosis; Resuscitation; Rupture, Spontaneous
PubMed: 31072456
DOI: 10.1053/j.sempedsurg.2019.04.009 -
Surgery, Gynecology & Obstetrics Nov 1976
Review
Topics: Abdominal Muscles; Congenital Abnormalities; Hernia, Umbilical; Humans; Infant, Newborn; Methods; Postoperative Care
PubMed: 136050
DOI: No ID Found -
Veterinary Research Communications Dec 2022Omphalocele is an embryonic developmental error presented as a neonatal visceral umbilical herniation. Epidemiological and embryological studies are reviewed that revise... (Review)
Review
Omphalocele is an embryonic developmental error presented as a neonatal visceral umbilical herniation. Epidemiological and embryological studies are reviewed that revise our understanding of midgut development and defects in cattle. Google Scholar and PubMed were searched for omphalocele, exomphalos, calves, calf, cattle, epidemiology, genetics, disease presentation, and omphalocele treatments of bovine neonates. Omphalocele contains small intestine and sometimes liver and/or pyloric abomasum. This condition may arise from inadequately expanded abdominal cavity, herniated midgut entrapment, or inappropriate umbilical ring growth. Full-term neonates are otherwise healthy but comorbidities may be present. Limited epidemiological evidence suggests neonates, commonly female, of dairy dams have much higher omphalocele prevalence than humans but with fewer co-morbidities. Genetic or environmental influences may present at low incidences, especially with co-defects, while also epigenetics operate in metabolically challenged dairy cattle. Calf survival after surgical repair was commonly good if damage to eviscerated tissue was minimal and surgery prompt. Inadequate follow-ups prevented assessment of their commercial value. We also revised understanding of embryonic midgut development. There is little useful epidemiological information on bovine omphaloceles. To address this, we suggest: (i) Observations on omphaloceles should report herd and dam histories, abdominal disposition of contents, and comorbidities. (ii) Cases of surgical restitution must report full histories and thoroughly explore post-surgical follow-ups to assess animal commercial viability. There is a need for very large-scale multi-centre prospective observational studies on cattle health and productivity that should include omphaloceles.
Topics: Pregnancy; Humans; Cattle; Animals; Female; Hernia, Umbilical; Veterinarians; Embryonic Development; Cattle Diseases; Observational Studies, Veterinary as Topic
PubMed: 36107281
DOI: 10.1007/s11259-022-09994-5 -
Seminars in Pediatric Surgery Apr 2019The respiratory difficulties experienced by infants with omphalocele are being appreciated with greater frequency. These problems represent self-limited difficulties... (Review)
Review
The respiratory difficulties experienced by infants with omphalocele are being appreciated with greater frequency. These problems represent self-limited difficulties related to omphalocele closure or are the result of severe pulmonary disease including pulmonary hypoplasia and pulmonary hypertension. Infants with giant omphalocele represent a unique group that may experience increased respiratory morbidity which may lead to chronic respiratory problems extending into childhood and adolescence. Importantly, respiratory insufficiency at birth is an independent predictor of mortality for patients with omphalocele. In this review, we will provide a summary of the respiratory difficulties experienced by patients with omphalocele as well as insight into management and surveillance.
Topics: Abnormalities, Multiple; Chronic Disease; Hernia, Umbilical; Humans; Hypertension, Pulmonary; Infant, Newborn; Lung; Respiratory Insufficiency
PubMed: 31072459
DOI: 10.1053/j.sempedsurg.2019.04.008 -
Obstetrical & Gynecological Survey Nov 2022Congenital omphalocele is among the most common antenatally diagnosed anomalies. As additional abnormalities are found in majority of cases, antenatal investigations... (Review)
Review
IMPORTANCE
Congenital omphalocele is among the most common antenatally diagnosed anomalies. As additional abnormalities are found in majority of cases, antenatal investigations target the search for additional structural anomalies and genetic disorders, including aneuploidy. Antenatal management focuses on the assessment of fetal well-being. Unfortunately, antenatal prediction of postnatal and long-term outcomes represents 2 less well-documented but crucial facets of this pathology. A large part of the prognosis relies on aspects that are difficult to predict such as quality of life, neurological development, and autonomy, which cause significant anxiety in expectant parents.
OBJECTIVE
This article offers a comprehensive review of antenatal management of omphalocele with a specific focus on predictive factors and long-term outcomes.
EVIDENCE ACQUISITION, RESULTS
We conducted an extensive literature review targeting management of fetal omphalocele. We had a specific interest in factors predictive of fetal and neonatal outcome as well as long-term consequences of omphalocele. Fetuses with large defects and those containing the liver are at higher risk of having a complicated postnatal course. Neonates may experience pulmonary hypoplasia, pulmonary hypertension, and gastroesophageal reflux. In selected cases, motor and cognitive delay may be present, but the overall life-long prognosis and quality of life is good.
CONCLUSIONS AND RELEVANCE
A multidisciplinary approach should be encouraged after the diagnosis of fetal omphalocele. In addition to clinical team experience, antenatal counseling should be based on objective and gestational age-dependent criteria and should include long-term outcomes.
Topics: Infant, Newborn; Female; Pregnancy; Humans; Hernia, Umbilical; Ultrasonography, Prenatal; Quality of Life; Retrospective Studies; Fetus; Counseling
PubMed: 36345106
DOI: 10.1097/OGX.0000000000001073 -
Seminars in Pediatric Surgery Apr 2019Omphaloceles are ventral abdominal wall defects that are associated with significant other anomalies in up to 80% of cases in some descriptions. Of these abnormalities,... (Review)
Review
Omphaloceles are ventral abdominal wall defects that are associated with significant other anomalies in up to 80% of cases in some descriptions. Of these abnormalities, Cardiac defects are some of the more common ones, and have the most substantial impact on outcomes and survival. In cases with a severe congenital heart defect (CHD), the omphalocele management changes significantly. This article addresses the common defects seen, and their management issues.
Topics: Abnormalities, Multiple; Cardiac Surgical Procedures; Heart Defects, Congenital; Hernia, Umbilical; Herniorrhaphy; Humans; Infant, Newborn
PubMed: 31072458
DOI: 10.1053/j.sempedsurg.2019.04.002 -
Prenatal Diagnosis Dec 1998Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated... (Review)
Review
Exomphalos affects approximately 3 in 10,000 births and can arise from a number of developmental insults. The clinical outcome is dependent upon the associated structural and chromosomal anomalies and the gestation at delivery. Accurate antenatal ultrasound diagnosis and karyotyping are important and allow informed prenatal and postnatal management decisions to be made. Prenatal care and counselling should be multidisciplinary and information should ideally be given to parents regarding prognosis and outcome based on prospectively collected population-based data.
Topics: Adult; Female; Hernia, Umbilical; Humans; Pregnancy; Ultrasonography, Prenatal; United Kingdom
PubMed: 9885020
DOI: 10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd480>3.0.co;2-4 -
Seminars in Pediatric Surgery Apr 2019Congenital abdominal wall defects are one of the most common human birth defects with an incidence of about 1 in 2000 live births. While often discussed together... (Review)
Review
Congenital abdominal wall defects are one of the most common human birth defects with an incidence of about 1 in 2000 live births. While often discussed together abdominal wall defects consist mainly of two distinct entities namely gastroschisis and omphalocele. There is no clear consensus explaining the precise embryological mechanisms leading to the development of an omphalocele. Many clinicians and embryologists have attempted to explain congenital malformation as a result of failure of progression of normal embryonic development. This review summarizes the mechanisms involved in normal and abnormal development of the ventral abdominal wall.
Topics: Abdominal Wall; Hernia, Umbilical; Humans; Risk Factors
PubMed: 31072462
DOI: 10.1053/j.sempedsurg.2019.04.003