"Trisomy 18" – What Is It?
Trisomy 18 is a serious genetic disorder caused by an extra chromosome 18. Affected children have various malformations, impaired growth, delayed development, and reduced intelligence. In the first five years of life, 90% of those affected die due to heart or kidney abnormalities, nutritional disorders, infections, or apnea. Children with mosaicism or partial trisomy 18 have a better prognosis. Hepatoblastomas and Wilms tumors are the most common tumors. The risk of Wilms’ tumors is about 1%.
How Is "Trisomy 18" Diagnosed?
The diagnosis is made clinically by an expert experienced in syndromes. The diagnosis is made by chromosome analysis.
What Is the Risk of Cancer?
Hepatoblastomas and Wilms’ tumors are the most common. The risk of Wilms’ tumors (Wilms’ tumors are kidney tumors in children) is around 1%.
What Is Known About the Development of "Trisomy 18"?
The additional presence of chromosome 18 increases the dose of genetic information present here. This effect results in drastically impaired development.
Is There Any Form of Treatment Available?
Caring for children requires an expert multi-professional team that works closely with the family concerned.
Diagnosis of " Trisomy 18" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Trisomy 18" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
An ultrasound examination of the abdomen and kidneys every 3 months until the age of 7 may be considered due to the increased risk of liver and kidney cancer. However, this is controversial due to the poor prognosis.
Trisomy 18- What You Can Do Yourself
You Should Pay Attention to This
Your treatment team should clarify any new symptoms.
Further Information
Any further questions?
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