Question 1

What is Beckwith-Wiedemann syndrome?

Accepted Answer

Beckwith-Wiedemann syndrome is a rare congenital overgrowth disorder characterized by excessive growth, enlarged organs, and increased cancer risk. It is caused by genetic and epigenetic changes affecting chromosome 11p15.5, leading to overexpression of the IGF-2 gene. The IGF-2 blood test is the most important test for monitoring this syndrome because it measures the growth factor levels that drive overgrowth and tumor development.

Question 2

What causes Beckwith-Wiedemann syndrome?

Accepted Answer

Beckwith-Wiedemann syndrome is caused by genetic and epigenetic alterations on chromosome 11p15.5 that disrupt normal growth regulation. These changes lead to overexpression of the IGF-2 gene and reduced expression of growth-suppressing genes like CDKN1C. The result is uncontrolled cell growth during fetal development and early childhood. Most cases occur sporadically without family history, though about 10-15% are inherited in an autosomal dominant pattern with parent-of-origin effects, meaning the genetic change matters depending on whether it comes from the mother or father.

Question 3

What is the best test for Beckwith-Wiedemann syndrome?

Accepted Answer

The IGF-2 blood test is the most important laboratory test for Beckwith-Wiedemann syndrome because it measures insulin-like growth factor-2 levels, which are typically elevated due to IGF-2 gene overexpression. This test helps monitor the biochemical activity driving excessive growth and increased tumor risk in affected individuals. While genetic testing through methylation analysis and chromosomal studies confirms the diagnosis, the IGF-2 test provides valuable ongoing monitoring information. Healthcare providers use IGF-2 levels alongside regular ultrasound screening and alpha-fetoprotein testing to assess tumor development risk and guide clinical management decisions throughout childhood.

Question 4

When should I get tested for Beckwith-Wiedemann syndrome?

Accepted Answer

You should get tested if your child shows signs of excessive growth, such as being significantly larger than expected for their age, having one side of the body larger than the other, or displaying an enlarged tongue that protrudes from the mouth. Testing is also important if your baby is born with abdominal wall defects, creases in the earlobes, or experiences repeated episodes of low blood sugar in infancy. Early testing allows for prompt tumor surveillance and management of complications, which significantly improves long-term outcomes for children with this condition.

Question 5

What are the symptoms of Beckwith-Wiedemann syndrome?

Accepted Answer

Beckwith-Wiedemann syndrome presents with a range of growth-related symptoms including macrosomia (large body size at birth), macroglossia (enlarged tongue), and hemihyperplasia (one side of the body larger than the other). Infants often have abdominal wall defects like omphalocele or umbilical hernia, distinctive facial features including creases or pits in the earlobes, and neonatal hypoglycemia that can be severe. Other signs include visceromegaly (enlarged organs, especially liver, spleen, and kidneys), and increased risk of embryonal tumors such as Wilms tumor and hepatoblastoma, particularly during the first eight years of life.

Question 6

Who is at risk for Beckwith-Wiedemann syndrome?

Accepted Answer

Beckwith-Wiedemann syndrome affects approximately 1 in 10,000 to 13,700 births worldwide, with most cases occurring sporadically without family history. Children conceived through assisted reproductive technologies have a slightly higher risk due to potential imprinting errors. Families with a history of BWS have increased risk, especially when inherited through the maternal line, since the genetic changes involve imprinted genes. Children with BWS have a 5-10% increased risk of developing embryonal tumors, with the highest risk occurring before age 8, making children with the syndrome the primary at-risk population requiring ongoing surveillance.

Question 7

What happens if Beckwith-Wiedemann syndrome is left untreated?

Accepted Answer

If Beckwith-Wiedemann syndrome is left unmonitored, children face serious risks including undetected tumor development, particularly Wilms tumor and hepatoblastoma, which are most common in early childhood. Severe neonatal hypoglycemia can cause seizures and permanent brain damage if not promptly treated. The enlarged tongue can lead to feeding difficulties, speech delays, breathing problems during sleep, and orthodontic complications. Hemihyperplasia may worsen over time, causing functional limitations and cosmetic concerns. Without proper medical management and regular tumor surveillance through ultrasounds and blood tests, children miss opportunities for early cancer detection when treatment is most effective and outcomes are best.

Question 8

Can Beckwith-Wiedemann syndrome be diagnosed with a blood test?

Accepted Answer

Beckwith-Wiedemann syndrome cannot be definitively diagnosed with blood tests alone, as diagnosis primarily requires genetic testing through methylation analysis and chromosomal studies. However, blood tests play an important supportive role in management. The IGF-2 test measures elevated insulin-like growth factor-2 levels associated with the condition, while alpha-fetoprotein screening helps monitor for liver tumors. Blood glucose testing is critical in newborns to detect and manage hypoglycemia. These blood tests complement the diagnostic genetic testing and provide ongoing monitoring information that guides treatment decisions and tumor surveillance protocols throughout childhood.

Question 9

How is Beckwith-Wiedemann syndrome treated?

Accepted Answer

Beckwith-Wiedemann syndrome treatment focuses on managing symptoms and preventing complications through a multidisciplinary approach. Neonatal hypoglycemia requires immediate treatment with frequent feedings or intravenous glucose to prevent brain damage. Macroglossia may need surgical tongue reduction if it causes breathing, feeding, or speech problems. Abdominal wall defects often require surgical repair. The most critical aspect is tumor surveillance through abdominal ultrasounds every 3 months until age 8 and regular alpha-fetoprotein blood tests to detect cancers early. Physical therapy helps address hemihyperplasia and developmental delays. Regular monitoring of IGF-2 levels helps assess ongoing disease activity and guide clinical decisions.

Question 10

How can I prevent Beckwith-Wiedemann syndrome?

Accepted Answer

Beckwith-Wiedemann syndrome cannot be prevented as it results from genetic and epigenetic changes that typically occur spontaneously during early development. For families with a known BWS history, genetic counseling before pregnancy can help assess recurrence risk and discuss options like preimplantation genetic diagnosis. While assisted reproductive technologies may carry a slightly increased risk, the absolute risk remains very low. The focus should be on early detection through prenatal ultrasound, which can identify features like macrosomia or abdominal wall defects, and prompt postnatal diagnosis and management. Early identification allows for immediate implementation of tumor surveillance protocols and hypoglycemia management, which significantly improve outcomes.

Question 11

What can I do at home for Beckwith-Wiedemann syndrome?

Accepted Answer

While Beckwith-Wiedemann syndrome requires professional medical management, parents can support their child at home by monitoring for signs of hypoglycemia, especially in infancy, including jitteriness, lethargy, or poor feeding, and seeking immediate medical attention if these occur. Maintain all scheduled tumor surveillance appointments and blood tests without delay. For children with macroglossia, work with speech and feeding therapists to implement recommended exercises and positioning techniques. Document growth patterns and any asymmetry changes to share with healthcare providers. Join support groups to connect with other BWS families and stay informed about the latest management strategies. Ensure all caregivers understand your child's specific needs and emergency protocols.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

Yes.
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Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
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Beckwith-Wiedemann Syndrome Blood Test

What is Beckwith-Wiedemann syndrome?

What causes Beckwith-Wiedemann syndrome?

What is the best test for Beckwith-Wiedemann syndrome?

When should I get tested for Beckwith-Wiedemann syndrome?

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