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Screening recommendations for patients with BWS are aimed primarily at detecting hepatoblastoma and Wilms tumor. Current suggested screenings for people who are known or suspected to have BWS include:
Baseline magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scan of the abdomen at the time of diagnosis
Abdominal ultrasound to screen for hepatoblastoma and Wilms tumor every three months, until age 8. After age 8, imaging may be limited to just a renal ultrasound
Serum alpha-fetoprotein blood test every six weeks (every three months at the minimum), until age 4
Regular physical examination, including abdominal exam; schedule determined by your doctor
If a child has an identical twin who doesn’t have signs of BWS, the twin should still be screened with ultrasounds and serum alpha-fetoprotein blood tests, as noted above.
Additionally, screening for hypoglycemia is important in infancy. Children with BWS may also need to be evaluated by a craniofacial team (doctors who specialize in treating head and face conditions) to determine if surgery may be required to decrease tongue size. Support may be needed to assist with feeding difficulties in infancy and speech development in childhood. Children with significant hemihyperplasia may need to be evaluated by an orthopedist (bone doctor).
Screening recommendations may change over time as new technologies are developed and more is learned about BWS. It is important to talk with your doctor about appropriate screening tests.