Screening & Follow-Up Care
We recommend that patients with Beckwith-Wiedemann syndrome or isolated hemihypertrophy have regular screenings in order to detect potential cancers as early as possible. Wilms' tumor and hepatoblastoma are cancers that can be cured with proper treatment.
The probability of cure depends in part upon the extent of the cancer’s spread (its stage) at diagnosis, as well as its histology or acquired genetic changes in the tumor tissue. Research shows that early detection leads to improved outcomes, as tumors are then smaller and easier to remove surgically. An earlier diagnosis may also reduce the need for chemotherapy and lower the dose of, or eliminate the need for, radiation treatment.
All cancer screening should be performed in consultation with a pediatric geneticist or oncologist, and radiology studies should be reviewed by a radiologist with pediatric expertise. In the event that screening results in a suspected or confirmed tumor, we recommend a prompt referral to a pediatric oncologist.
CHOP recommends the following cancer screening protocol for patients suspected of having, or proven to have, Beckwith-Wiedemann syndrome or isolated hemihypertrophy:
Abdominal Ultrasound
An abdominal ultrasound should be performed every three months until 7 years of age. Until 4 years of age, the ultrasound should include views of the liver, kidneys and other internal organs. After 4 years of age, renal ultrasounds with views of the adrenal glands should be performed until 7 years of age.
The risk for hepatoblastoma drops significantly in children older than 4, so the remaining ultrasounds can focus specifically on the kidneys (renal ultrasounds), which includes the adrenal glands that sit on top of the kidneys.
Abdominal ultrasounds are safe and painless, and do not involve the use of radiation.
Measurement of Blood Alpha-Fetoprotein (AFP) Concentration
A blood test to measure serum AFP should be performed every three months until 4 years of age. AFP is a protein released by immature or damaged liver cells, and it is released at higher levels by hepatoblastoma tumor cells. This is an extremely sensitive way to detect these cancers.
Because AFP levels are normally high during the newborn period, measurements should be performed regularly and reviewed by an experienced pediatrician, geneticist or pediatric oncologist.
The key with AFP levels is to follow the trend — normal levels are expected to decrease over time. Whenever possible, AFP screening should be done at the same center for consistency of results.
Additional Healthcare Needs
Some children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy may need to see other medical specialists. Geneticists can also assist with referrals to these specialists and aid in monitoring tumor screening.
- Oncology: Oncologists can discuss cancer risks, as well as coordinate and review the results of appropriate tests for cancer surveillance.
- Orthopaedics: Children with leg-length discrepancies may require evaluation by an orthopedist.
- Plastic surgery: Children with enlarged tongues should be evaluated by a plastic surgeon and have formal evaluations for potential effects on feeding, speech and sleep.
- Endocrinology: Children with severe hypoglycemia should be evaluated by an endocrinologist, and treatment may be required until this normalizes.
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Additional evaluations are based on clinical needs.
*This information is for educational purposes and is not intended for diagnosis or to replace a physician's advice. Please see your doctor for treatment and diagnosis if you suspect your child has BWS.