Prevalence:

• 1 in 100,000 births.

Ultrasound diagnosis:

• The most common are hemangioma, mesenchymal hamartoma and hepatoblastoma.
• They can be cystic, echogenic, mixed solid and cystic or they may just present with hepatomegaly.
• Hemangiomas and hepatoblastomas may be associated with evidence of high-output heart failure, hydrops and polyhydramnios.
• Color Doppler studies may be helpful in distinguishing hemangioma from the other tumors.

Associated abnormalities:

• Chromosomal abnormalities: no increased risk.
• Hepatoblastoma can be associated with the Beckwith–Wiedemann syndrome with evidence of organomegaly and macroglossia.

Investigations:

• Detailed ultrasound examination, including echocardiography.
• Doppler ultrasound to define the vascular anatomy of the liver.
• Fetal MRI to define the extent of the tumor and its relationship with intrahepatic structures and adjacent organs.

Follow up:

• Ultrasound scans every 2-3 weeks to monitor the size of the tumor and development of heart failure and polyhydramnios.

Fetal therapy:

• In the case of large hemangiomas associated with high-output heart failure maternal administration of steroids may arrest the growth of the tumor.

Delivery:

• Place: hospital with neonatal intensive care and pediatric surgery.
• Time: 38 weeks.
• Method: cesarean section for large vascular tumors to avoid rupture at the time of delivery.

Prognosis:

• Hemangiomas: survival of about 80% after treatment with steroids. However, occasionally, they are associated with arteriovenous shunting, congestive heart failure and hydrops, resulting in intrauterine or neonatal death. After infancy the tumors regress spontaneously.
• Mesenchymal hamartoma: surgical resection with 70% survival.
• Hepatoblastoma: surgical resection with 60% survival. Prior to resection several cycles of chemotherapy may be necessary to shrink the tumor and make it resectable.

Recurrence:

• In general there is no increased risk of recurrence.
• In hepatoblastoma in association with Beckwith–Wiedemann syndrome (autosomal dominant) and familial adenomatous polyposis (autosomal dominant condition that predisposes to colonic adenomas and carcinomas) the risk is increased.

Further information:

• https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome