Omphalocele and Gastroschisis

Omphalocele and gastroschisis are congenital abdominal wall defects and were first described in the 16th century by Ambrose Paré and Lycosthenes, respectively.
The first successful repair of omphalocele was reported by Hey in 1802, and the first successful repair of gastroschisis, by Visick in 1873.¹
Coverage of the defect with skin flap was used for the repair of omphalocele before, but the problem was that closure of the resultant hernia could be difficult because of failure of the abdominal cavity to grow without the impetus of the intestines within it and because of intestinal adhesions to the skin flaps.
Current surgical treatment to the omphalocele, which is unable to be closed primarily, is staged reduction, attaching silastic silo to the abdominal wall, progressively tightening over days to weeks to stretch abdominal wall and make room for intestine to achieve the goal of final primary closure.
Most of the patients with gastroschisis can be primarily closed. If not, a silastic silo can be applied as well.

RELEVANT ANATOMY AND TERMINOLOGY

Omphalocele

Omphalocele is a large defect (>4 cm) covered by amniotic membrane that contains midgut and other abdominal organs including the liver and often the spleen and gonad (Figure 15.1).
Omphalocele with cephalic fold defect (pentalogy of Cantrell) is where the abdominal wall defect is supraumbilical and the heart is in the sac through a defect in the pericardium and the central tendon of the diaphragm (Figure 15.2).
Ectopia cordis thoracis (when the heart is outside the chest with no pericardial covering as opposed to being inside the omphalocele sac) might be considered a form of a cephalic fold defect as well (Figure 15.3).
Omphalocele with caudal fold defect is cloacal exstrophy, in which the defect is infraumbilical and accompanied by exstrophy of the bladder, epispadias with ileum prolapsed between the 2 halves of the exstrophied bladder, diastasis of the pubic rami, and imperforate anus.

Figure 15.1 Omphalocele in a newborn. (Reprinted with permission from Ricci S. Essentials of Maternity, Newborn, and Women’s Health Nursing. 4th ed. Philadelphia, PA: Wolters Kluwer; 2016.)

Figure 15.2 Pentalogy of Cantrell. (Reprinted with permission from Mulholland MW, Lillemoe KD, Doherty GM, Maier RV, Upchurch GR, eds. Greenfield’s Surgery: Scientific Principles and Practice. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006.)

Figure 15.3 Ectopia cordis thoracis. (Reprinted with permission from Kline-Fath BM, Bulas DI, Bahado-Singh R, eds. Fundamental and Advanced Fetal Imaging. Philadelphia, PA: Wolters Kluwer Health; 2015.)

Gastroschisis

Gastroschisis is usually less than 4 cm in diameter, has no covering membrane, and usually contains only the midgut with the stomach and possibly a gonad and is almost always to the right of the umbilical cord (Figure 15.4)
The extruded intestine may be thickened and covered with fibrinous exudate.
Complicated gastroschisis means the association with other gastrointestinal conditions such as atresia, perforation, necrosis, or volvulus as a separate entity.
Complicated gastroschisis is usually associated with a poorer outcome (Table 15.1).

ETIOLOGY AND EPIDEMIOLOGY

Omphalocele

Omphalocele represents a failure of the body folds to grow, migrate, and fuse.
The risk factors include both advanced and very young maternal age, maternal obesity, vitamin deficiency (especially vitamin B12 or folic acid), and poor glycemic control.²
Omphalocele exists in families and is associated with chromosomal anomalies (especially trisomy 18).³
Omphalocele is included in many syndromes as well.
For instance, Beckwith-Wiedemann syndrome is the most common.⁴
However, no specific genes or chromosomal anomalies have been identified with gastroschisis.
Omphalocele is the second most common abdominal wall defect.
The overall incidence is 1 out of 6000 to 1 out of 10 000 live births with a male preponderance.
Up to 45% of patients with omphalocele have been reported to have a cardiac abnormality.⁶

Figure 15.4 Gastroschisis. (Courtesy of Robert J Izant Jr, MD, Case Western Reserve University, Cleveland, Ohio. Reprinted with permission from Stocker JT, Dehner LP, Husain AN. Stocker and Dehner’s Pediatric Pathology. 3rd ed. Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins; 2010.)

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