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An omphalocele (British English: omphalocoele) is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall (exomphalos). Omphalocele occurs in 2.5/10,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%) and neural tube defect (40%). Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities.

Presentation[edit]

The sac, which is formed from an outpouching of peritoneum, protrudes in the midline, through the umbilicus (navel).

It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of pregnancy, after which they return to inside the fetal abdomen.

The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases surgical treatment is made more difficult because the infant's abdomen is abnormally small, having had no need to expand to accommodate the developing organs.

Larger omphalocele are associated with a higher risk of cardiac defects.^[1]

Screening[edit]

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.

Causes[edit]

Caused by malrotation of the bowels while returning to the abdomen during development. Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome (Trisomy 18)^[2]^[3] or Patau Syndrome (Trisomy 13).

Related conditions[edit]

Gastroschisis is a similar birth defect, but in gastroschisis the umbilical cord is not involved and the lesion is usually to the right of midline. Parts of organs may be free in the amniotic fluid, and not enclosed in a membranous (peritoneal) sac. Gastroschisis is less frequently associated with other defects than omphalocele.

Other related syndromes are pentalogy of Cantrell, Beckwith-Wiedemann, and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).

International Omphalocele Awareness Day[edit]

International Omphalocele Awareness Day is celebrated annually on January 31st, as part of Birth Defect Awareness Month. The first "O" Awareness Day was in 2012. Participants wear black and white, the color of the MOOs - Mothers of Omphaloceles, in an effort to raise awareness and support for omphalocele, and many share facts and information through e-mail, Facebook, Twitter,and Blogs.

Support[edit]

MOO - Mothers of Omphaloceles - The Mothers of Omphaloceles is support group for parents, grandparents, and families of children born with omphalocele, as well as individuals born with omphalocele themselves. They can be found both through Yahoo Groups and on Facebook.

MOO - Mothers of Omphaloceles [Facebook]
Mothers of Omphaloceles [Yahoo Groups]
Omphalocele Awareness

References[edit]

^ http://www.sciencedirect.com/science/article/pii/S0022346808007495
^ Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG (2002). "Omphalocele in three generations with autosomal dominant transmission". J. Med. Genet. 39 (3): 184–5. doi:10.1136/jmg.39.3.184. PMC 1735073. PMID 11897819.
^ Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG (2003). "Omphalocele in trisomy 3q: further delineation of phenotype". Clin. Genet. 64 (5): 404–13. doi:10.1034/j.1399-0004.2003.00159.x. PMID 14616763.

External links[edit]

The Brown Fetal Treatment Program - Providence, Rhode Island at Brown University
Fetal Treatment Center: Omphalocele at UCSF

UpToDate Contents

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1. 臍帯ヘルニアの産科管理 obstetrical management of omphalocele
2. 胎児腹壁欠陥の出生前超音波診断 prenatal sonographic diagnosis of fetal abdominal wall defects
3. ベックウィズ・ヴィーデマン症候群 beckwith wiedemann syndrome
4. 無脳症 anencephaly
5. 腸回転異常 intestinal malrotation

English Journal

Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Meyer RE1, Liu G2, Gilboa SM3, Ethen MK4, Aylsworth AS5, Powell CM5, Flood TJ6, Mai CT3, Wang Y7, Canfield MA4; National Birth Defects Prevention Network.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Apr;170(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.
Trisomy 13 (T13) and trisomy 18 (T18) are among the most prevalent autosomal trisomies. Both are associated with a very high risk of mortality. Numerous instances, however, of long-term survival of children with T13 or T18 have prompted some clinicians to pursue aggressive treatment instead of the t
PMID 26663415

Watchful waiting as a treatment strategy for patients with a ventral hernia appears to be safe.

Kokotovic D1, Sjølander H2, Gögenur I2, Helgstrand F2.
Hernia : the journal of hernias and abdominal wall surgery.Hernia.2016 Apr;20(2):281-7. doi: 10.1007/s10029-016-1464-z. Epub 2016 Feb 2.
PURPOSE: Due to risks of postoperative morbidity and recurrence some patients with a ventral hernia are not offered surgical repair. There is limited data on the rate and consequences of a watchful waiting (WW) strategy for these patients. The objective of this cohort study was to analyse outcomes f
PMID 26838293

Transabdominal midline reconstruction by minimally invasive surgery: technique and results.

Costa TN1, Abdalla RZ2, Santo MA2, Tavares RR2, Abdalla BM2, Cecconello I2.
Hernia : the journal of hernias and abdominal wall surgery.Hernia.2016 Apr;20(2):257-65. doi: 10.1007/s10029-016-1457-y. Epub 2016 Jan 22.
BACKGROUND: The introduction of the minimally invasive approach changed the way abdominal surgery was carried out. Open suture and mesh reinforcement in ventral hernia repair used to be the surgeon's choice of procedure. Although the laparoscopic approach, with defect bridging and mesh fixation, has
PMID 26801185