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Pediatrics International : Official... Jan 2022
Topics: Humans; Hernia, Umbilical; Dilatation; Intestinal Diseases; Ileum; Cysts
PubMed: 36564348
DOI: 10.1111/ped.15357 -
Surgery Nov 1977
Review
Topics: Abdominal Muscles; Abnormalities, Multiple; California; Diagnosis, Differential; Hernia, Umbilical; Humans; Infant, Newborn; Infant, Premature; Methods; Surgical Mesh
PubMed: 144328
DOI: No ID Found -
Taiwanese Journal of Obstetrics &... Mar 2007Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with... (Review)
Review
Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup (3q), dup (11p), inv (11), dup (1q), del (1q), dup (4q), dup (5p), dup (6q), del (9p), dup (15q), dup(17q), Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD) such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.
Topics: Aneuploidy; Chromosome Aberrations; Female; Global Health; Hernia, Umbilical; Humans; Male; Uniparental Disomy
PubMed: 17389182
DOI: 10.1016/S1028-4559(08)60099-6 -
Pediatric Surgery International Aug 2004The prevalence of umbilical cord cysts at 7-13 weeks' gestation is approximately 3%. More than 20% of such cases are complicated by structural defects and/or chromosomal... (Review)
Review
The prevalence of umbilical cord cysts at 7-13 weeks' gestation is approximately 3%. More than 20% of such cases are complicated by structural defects and/or chromosomal abnormalities such as trisomy 18. These cysts usually have a single cavity and are <5 cm in size. Therefore, when an umbilical cord cyst is detected in the 2nd trimester, the examination of fetal karyotype is recommended. Omphaloceles are also well known to be complicated by many anomalies, especially trisomy 18. We report a case of an omphalocele associated with a large multilobular umbilical pseudocyst (diameter >5 cm) in a patient with a normal karyotype, 46XY. These anomalies were diagnosed by fetal ultrasonography. However, the cyst was difficult to diagnose as an umbilical cord pseudocyst because it was very large and multilobulated. At 38.5 weeks of gestation, the patient was delivered by Cesarean section. The cyst was resected, and the omphalocele was closed by staged surgeries. Pathologic diagnosis of the cyst was the degeneration of Wharton's jelly. This diagnosis was made by the absence of epithelial lining inside the cyst wall, since the existence of epithelial cells correlates with true cysts.
Topics: Cysts; Hernia, Umbilical; Humans; Infant, Newborn; Male; Ultrasonography, Prenatal; Umbilical Cord
PubMed: 15449087
DOI: 10.1007/s00383-004-1247-y -
Annals of Surgery Apr 1973
Topics: Abdominal Muscles; Abnormalities, Multiple; Birth Weight; Female; Hernia, Umbilical; Hernia, Ventral; Humans; Male; Statistics as Topic
PubMed: 4266281
DOI: 10.1097/00000658-197304000-00016 -
La Pediatria Medica E Chirurgica :... 1984We review our experience of 32 cases of omphalocele treated in the last ten years. Improved neonatal intensive care unit, as well as other support care measures, allowed...
We review our experience of 32 cases of omphalocele treated in the last ten years. Improved neonatal intensive care unit, as well as other support care measures, allowed to extend even to the large defects the indication to radical primary repair. Our experience has supported that this is the method of choice in almost all cases. At present the surgical success depend on associated anomalies, cardiac especially (25% in our series), and on development of sepsis. Analysis of the results shows an overall mortality rate of 41% in the period 1973/1982, significantly decreased to 33% in the last five years.
Topics: Administration, Topical; Female; Hernia, Umbilical; Humans; Infant, Newborn; Male; Merbromin; Parenteral Nutrition; Povidone-Iodine; Retrospective Studies
PubMed: 6085401
DOI: No ID Found -
Pediatrics International : Official... Jan 2022
Topics: Extracorporeal Membrane Oxygenation; Hernia, Umbilical; Humans; Infant, Newborn; Respiratory Insufficiency
PubMed: 34558763
DOI: 10.1111/ped.14682 -
Archives of Disease in Childhood. Fetal... Jan 2019To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical...
OBJECTIVES
To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age.
DESIGN
We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding.
RESULTS
We included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: -0.57 (-1.05 to -0.09); weight: -0.86 (-1.35 to -0.37)) and giant omphalocele (height: -1.32 (-2.10 to -0.54); weight: -1.58 (-2.37 to -0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002).
CONCLUSIONS
The prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy.
Topics: Child Development; Child, Preschool; Developmental Disabilities; Female; Fetus; Hernia, Umbilical; Humans; Infant; Infant, Newborn; Male; Prenatal Diagnosis; Prognosis; Severity of Illness Index
PubMed: 29563149
DOI: 10.1136/archdischild-2017-314700 -
Neonatal Network : NN 2006An omphalocele, a ventral defect of the umbilical ring resulting in herniation of the abdominal viscera, is one of the most common congenital abdominal wall defects seen... (Review)
Review
An omphalocele, a ventral defect of the umbilical ring resulting in herniation of the abdominal viscera, is one of the most common congenital abdominal wall defects seen in the newborn. Omphaloceles occur in 1 in 3000 to 10,000 live births. Associated malformations such as chromosomal, cardiac, or genitourinary abnormalities are common. Postnatal management includes protection of the herniated viscera, maintenance of fluids and electrolytes, prevention of hypothermia, gastric decompression, prevention of sepsis, and maintenance of cardiorespiratory stability. A primary or staged closure approach may be used to repair the defect. Some giant omphaloceles require a skin flap or nonoperative management approach, hoxvever. Immediate postoperative complications, usually related to significant changes in intra-abdominal pressures, include compromise of interior venous blood return and hemodynamic and respiratory instability due to diaphragmaric elevation. Complications occur more frequently with giant defects. Potential short-term complications include necrotizing enterocolitis, prolonged ileus, and respiratory distress. Long-term complications include parenteral nutrition dependence, gastroesophageal reflux, parenteral nutrition-related liver disease, feeding intolerance, and neurodevelopmental delay. Overall, advances in surgical therapies and nursing care have improved outcomes for infants with omphaloceles; survival rates for those with isolated omphaloceles are reported at 75 to 95 percent. Infants with associated anomalies and giant omphaloceles have the poorest outcomes.
Topics: Adult; Delivery, Obstetric; Female; Hernia, Umbilical; Humans; Infant, Newborn; Neonatal Nursing; Perinatal Care; Pregnancy; Prenatal Care; Surgical Flaps; Survival Rate
PubMed: 16989131
DOI: 10.1891/0730-0832.25.5.319 -
Prenatal Diagnosis Jul 2008Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype... (Review)
Review
Omphalocele is one of the most common abdominal wall defects seen in the prenatal period. Once this diagnosis is confirmed, it is important to check the fetal karyotype and thoroughly assess the fetus for other malformations. Prenatal management involves serial assessment of fetal growth and prenatal testing to ensure fetal well-being. Closure of the abdominal wall and replacement of organs into the abdominal cavity can be done directly if the omphalocele is small or in a staged manner if the omphalocele is large. Successful outcomes for these neonates can be optimized with a multidisciplinary team approach to prenatal and postnatal management.
Topics: Abdominal Cavity; Female; Hernia, Umbilical; Humans; Infant, Newborn; Pregnancy; Prenatal Care; Ultrasonography, Prenatal
PubMed: 18634119
DOI: 10.1002/pd.2008