Omphalocele

Question 1

What is omphalocele?

Answer 1

Full thickness (skin, muscle, fascia) midline abdominal wall defect at the base of the umbilical cord insertion covered by membrane.

Question 2

Describe the ultrasound characteristics of an omphalocele.

Answer 2

Umbilical cord insertion into the membrane covering the contents of the viscera extruding from abdominal wall defect

Question 3

How do you distinguish between an omphalocele and gastroschisis on ultrasound?

Answer 3

Omphalocele: -midline defect -contained in membrane -umbilical cord inserted into membrane -associated with chromosomal abnormality -female > male -low MsAFP Gastroschisis: -Defect to the right of the umbilical cord insertion -No membrane -Elevated MsAFP -No associated with aneuploidy

Question 4

How do you counsel a patient if an omphalocele is identified on ultrasound?

Answer 4

High incidence of other malformation and chromosomal disorder. Pulmonary hypoplasia and pulmonary hypertension

Question 5

What is the likelihood of an underlying genetic abnormality in the presence of an omphalocele?

Answer 5

up to 54%

Question 6

How does the size of an omphalocele impact the likelihood of an underlying genetic abnormality

Answer 6

the smaller the size the higher the likelihood of genetic abnormality

Question 7

How do you counsel the patient on the prognosis for fetuses with an omphalocele?

Answer 7

Increases risk of fetal growth restriction and IUFD Preterm delivery/long NICU stay Abdominal compartment syndrome 80% survival when isolated 10-20% survival when associated with other anomalies

Question 8

What work-up do you recommend when an omphalocele is identified on ultrasound?

Answer 8

Detailed anatomic survey Fetal echocardiogram Amniocentesis Maternal history (medication exposure, alcohol/illicit drug use and family history)

Question 9

What are the most likely genetic conditions associated with omphalocele?

Answer 9

T13 T18 Triploidy Monosomy X Beckwidth-Wiederman syndrome Meckel Gruber (encephocele, renal cystic dysplasia, dandy-walke) OEIS complex

Question 10

How do you counsel a patient regarding route of delivery in the setting of omphalocele without an underlying abnormality?

Answer 10

Extracorporeal liver –> c-section (deliver at 37 weeks if giant –> measuring >5cm) Deliver at 39 weeks vaginally if small omphalocele

Question 11

What are the most likely associated anomalies with omphalocele?

Answer 11

Cardiac GI atresia Renal abnormalities Polyhydramnios

Question 12

What are the risk factors for omphalocele?

Answer 12

AMA, ART, Aneuploidy

Question 13

How do you follow a pregnancy with an isolated omphalocele?

Answer 13

Detailed anatomic survey Fetal echocardiogram Amniocentesis Fetal growth monthly Antenatal testing at 32 weeks Antenatal neonatal and surgical consultation Delivery at 37 weeks

Question 14

Pentralogy of Cantrell:

Answer 14

• Ectopic cordis
• Omphalocele
• Sternal defect
• Diaphragmatic defect
• Pericardial defect