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229688251 omphalocele
- 1. Jump to firstpageCopyright, 1996 © Dale Carnegie & Associates, Inc. Omphalocele Origin from the Greek word “Omphalos” meaning “center of the world”
- 2. Jump to firstpage Introduction Abdominal Wall defects 3 subtypes Gastroschisis Omphalocele Hernia of the umbilical cord
- 3. Jump to firstpage Introduction Integrity of the fetal abdominal wall development depends on appropriate craniocaudal and lateral infolding of the embryonic disk.
- 4. Jump to firstpage Introduction The migration and fusion of the cranial, caudal and lateral folds normally result in an intact umbilical ring by 5 weeks gestation.
- 5. Jump to firstpage Introduction Partial or complete arrest of this process is believed to result in omphalocele.
- 6. Jump to firstpage Introduction Failure of migration and fusion of the lateral abdominal folds is associated with the formation of a central abdominal omphalocele with insertion of the umbilical cord onto the central omphalocele sac with a surrounding fascial defect.
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- 8. Jump to firstpage Omphalocele Defect is covered by a surrounding membrane (peritoneum and amnion) Umbilical cord inserts into the sac Typically contain bowel and/or liver, stomach and spleen
- 9. Jump to firstpage Types of Omphalocele Central - failure of fusion of lateral folds Epigastric - failure of fusion of lateral and cephalic folds Hypogastric - failure of fusion of caudal and cephalic folds
- 10. Jump to firstpage Omphalocele
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- 12. Jump to firstpage California Birth Defects Monitoring Program
- 13. Jump to firstpage Comparison OMPHALOCELE 1:4,000 to 10,000 Covering sac present Cord onto sac Herniated bowel normal NEC if sac ruptured Failure of migration and fusion of folds wk 3 to 5 Anomalies 45 to 55 % Survival 20%/70% GASTROSCHISIS 1:20,000 to 30,000 Covering sac absent Cord onto abdominal wall Bowel edematous, matted NEC 18% Failure of return of midgut to abdomen by wk 10 Anomalies 10 to 15% Survival 70-90%
- 14. Jump to firstpage Omphalocele
- 15. Jump to firstpage Gastroschisis
- 16. Jump to firstpage Associated GI Anomalies Midgut volvulus Meckel diverticulum Intestinal atresia Intestinal duplication Malrotation
- 17. Jump to firstpage Giant Omphalocele
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- 19. Jump to firstpage Chromosomal Anomalies Amniocentesis is indicated when an omphalocele is identified in a fetus, because approximately 30 percent of fetuses with an omphalocele have a chromosome abnormality.
- 20. Jump to firstpage Chromosomal Anomalies The most common chromosomal abnormalities are Trisomy 18 Trisomy 13 Trisomy 21 Turner syndrome (45, X) Triploidy
- 21. Jump to firstpage Chromosomal Anomalies Fibrochondrogenesis Amnion rupture sequence Carpenter syndrome CHARGE association Duplication 3q syndrome Fryns syndrome Hydrolethalus syndrome Killian/Teschler-Nicola syndrome Marshall-Smith, Meckel-Gruber, Melnick- Needles, Miller-Dieker, Oto-Palato-Digital II.
- 22. Jump to firstpage Associated Anomalies Another syndrome that may be associated with an omphalocele is Beckwith-Wiedemann syndrome.
- 23. Jump to firstpage Beckwith Wiedemann Syndrome The cardinal features of this disorder are Exomphalos, Macroglossia, and Gigantism in the neonate. This was the origin of the initialism EMG syndrome, used earlier as the preferred designation.
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- 25. Jump to firstpage Beckwith Wiedemann Syndrome Associated features - gigantism, macroglossia, visceromegaly. Developmental abnormalities - Wilms tumor, congenital heart defects, hemihypertrophy Inheritance - may be AD but expressed only in individuals who inherit it from their mother. Caused by mutation at 11p15.5 Pathogenesis of the disease - involves deregulation of imprinted genes in the region
- 26. Jump to firstpage Genetics of BWS Expression of an allele depends on its parental origin. Disease can occur if the normally expressed allele is absent or mutated: Deletion Uniparental disomy Chromosome rearrangement Mutation which leads to loss of expression
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- 28. Jump to firstpage Beckwith-Wiedemann Syndrome Macrosomia, large muscle mass, accelerated bony maturation Macroglossia, prominent eyes, large fontanels, prominent occiput Linear fissures lobule of external ear, indentations on posterior rim of helix Large kidneys, medullary dysplasia Pancreatic hyperplasia with excess of islets Focal adrenocortical cytomegaly Polycythemia, hypoglycemia, cryptorchidism, isolated cardiomegaly, diaphragmatic eventration
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- 30. Jump to firstpage 6 month old infant
- 31. Jump to firstpage Beckwith-Wiedemann Syndrome Hepatomegaly, hemihypertrophy Adrenal carcinoma, Wilm’s tumor Gonadoblastoma, hepatoblastoma, large ovaries, hyperplastic uterus and bladder, bicornuate uterus, hypospadias Immunodeficiency Cardiac hamartoma, focal cardiomyopathy
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- 33. Jump to firstpage Exstrophy of Cloaca Sequence Incomplete closure of caudal and lateral folds Cloacal or bladder exstrophy Hypogastric omphalocele Vesicointestinal fissure, imperforate anus, colonic agenesis
- 34. Jump to firstpage ???
- 35. Jump to firstpage Omphalocele
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- 37. Jump to firstpage Associated Anomalies Pentalogy of Cantrell Failure of closure of lateral and cephalic folds Sternal defect (cleft sternum) Diaphragmatic defect (anterior midline) Pericardial defect (absence) Abdominal wall defect (omphalocele) Cardiac anomaly (ectopia cordis)
- 38. Jump to firstpage Associated Anomalies Other anomalies are identified in approximately 67 to 88 percent of fetuses with an omphalocele. The prognosis of the fetus often depends on the presence of associated anomalies.
- 39. Jump to firstpage Gastroschisis Small abdominal wall defect, lateral to the umbilicus Umbilical cord attached to abdominal wall to the left of defect No limiting sac, viscera often limited to small intestine and ascending colon
- 40. Jump to firstpage Gastroschisis
- 41. Jump to firstpage Gastroschisis Ischemic compromise due to compression of mesenteric blood vessels when defect is small Serositis and serosal peel result from amniotic fluid exposure Ischemic changes and atresia are late events related to mesenteric constriction
- 42. Jump to firstpage Hernia of the Umbilical Cord Occurs later in gestation At 8 to 11 weeks, normal contracture of the umbilical ring occurs Accompanied by return of the midgut to the abdominal cavity Failure of umbilical ring contracture
- 43. Jump to firstpage Hernia of the Umbilical Cord
- 44. Jump to firstpage Hernia of the Umbilical Cord Small fascial defect, less than 4 cm An intact umbilical ring Generally, only small intestinal herniation Low cord clamping can cause intestinal injury (small defect, failure to appreciate herniated intestine)
- 45. Jump to firstpage Management Advances in obstetric ultrasound have allowed the diagnosis of abdominal wall defects in utero Karyotype analysis when appropriate A large omphalocele, a syndrome- associated omphalocele, Trisomy syndromes, or severe associated anomalies allows counseling for termination of pregnancy
- 46. Jump to firstpage Management In addition, prenatal diagnosis improves management by allowing maternal transport for labor and delivery at a tertiary center PLAN AHEAD
- 47. Jump to firstpage Management These infants have excessive heat, fluid and protein losses which must be replaced Increased risk of contamination because of the absence of a protective barrier Complete physical examination Attention to euglycemia Call the friendly neighborhood surgeons
- 48. Jump to firstpage Management Primary repair of ventral wall defect with complete reduction Staged reduction of herniated viscera large defects containing liver and intestine Skin-flap closure without ventral wall repair multiple complex congenital anomalies Nonsurgical methods uncorrectable congenital anomalies
- 49. Jump to firstpage Umbilical scar after repair of Omphalocele