A 1-hour-old newborn boy is evaluated in the delivery room. He was born at 37 weeks gestation to a 39-year-old G3P3 mother. The mother initially labored at home with a midwife but was transferred to the hospital for failure to progress. The infant was eventually delivered via Caesarean section. The mother declined all prenatal screening tests during this pregnancy. His temperature is 98.6°F (37°C), blood pressure is 63/41 mmHg, pulse is 133/min, and respirations are 39/min. His Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. His weight is 3.0 kg (6.6 lb), and his height and his head circumference are in the 30th and 40th percentiles, respectively. On physical exam, he is found to have a 3 cm full-thickness defect in the abdominal wall to the right of the umbilicus with evisceration of a loop of the bowel. The abdominal defect is immediately covered in sterile saline dressings and an orogastric tube and 2 peripheral intravenous lines are placed. This condition is most likely associated with which of the following additional findings?
Ventricular septal defect
Bicuspid aortic valve
A normal cardiac exam
Tetralogy of Fallot
A normal cardiac exam
This patient presents with a full-thickness defect in the abdominal wall lateral to the umbilicus with evisceration of the bowel, which suggests a diagnosis of gastroschisis. Gastroschisis is not associated with any cardiac defects.

Gastroschisis and omphalocele are the most common abdominal wall defects found in infants and there are important differences between them. Whereas the eviscerated bowel in gastroschisis is not covered by a membrane, the exposed bowel in the omphalocele is covered by a membranous sac. The abdominal wall defect in gastroschisis is located lateral to the umbilicus, whereas in omphalocele the defect is midline. The distinction is also important for management, as omphalocele is commonly associated with other extraintestinal defects whereas fewer than 10% of cases of gastroschisis are associated with an extraintestinal abnormality. Treatment is with surgical correction of the abdominal wall defect.

Skarsgard reviews the evidence regarding the diagnosis and treatment of gastroschisis. He discusses how this is one of the most common birth defects managed in the ICU setting. He recommends urgent surgical correction.

Incorrect Answers:
Answer B: A bicuspid aortic valve occurs in many cases of Turner syndrome. This disease presents with a webbed neck, short stature, low hairline, broad (“shield”) chest, bicuspid aortic valve, horseshoe kidney, and streak ovaries. Treatment is supportive with surgical fixation of cardiac defects and hormone supplementation with growth hormone.

Answer C: Endocardial cushion defects are most commonly found in trisomy 21 (Down syndrome). Over a third of individuals with trisomy 21 have a complete atrioventricular septal defect, and another third have isolated ventricular septal defects. Infants with Down syndrome commonly present with the upslanting palpebral fissures, flat nasal bridge, transverse palmar crease, and hypotonia. Treatment is with supportive care of these deformities such as surgical correction of cardiac defects.

Answer D: Tetralogy of Fallot is most often associated with trisomy 21 (Down syndrome) and 22q11 deletion syndromes. Infants with Down syndrome commonly present with upslanting palpebral fissures, flat nasal bridge, transverse palmar crease, and hypotonia. Treatment is with supportive care of these deformities such as surgical correction of cardiac defects.

Answer E: Ventricular septal defects occur in several genetic syndromes, including trisomy 21 (Down syndrome) and trisomy 13 (Patau syndrome). Infants with trisomy 13 commonly present with cleft lip or palate, polydactyly, and severe intellectual disability. This disease is not compatible with survival past 1 year of age so treatment can involve termination of pregnancy or supportive care.

Bullet Summary:
Gastroschisis presents with an abdominal wall defect with evisceration of the bowel that is lateral to the umbilicus and is not usually associated with other birth defects.