What is trisomy 18?
Trisomy 18 is a severe hereditary disease caused by an additional chromosome 18. Affected children have various malformations, disturbed growth, delayed development, and reduced intelligence. In the first 5 years of life, 90% of those affected die because of heart or kidney anomalies, eating 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 developing a Wilms tumor is around 1%.
How is trisomy 18 diagnosed?
The diagnosis is made clinically by experts who are experienced with syndromes. Evidence is confirmed by a chromosome analysis.
What is the risk of cancer?
Hepatoblastomas and Wilms tumors are the most common tumors. The risk of developing a Wilms tumor (Wilms tumors are kidney tumors during childhood) is around 1%.
What causes trisomy 18?
Due to the extra chromosome 18, there is an elevated dose of the genetic information contained here. This effect drastically disturbs development.
Is there a treatment?
Medical care for children requires an expert, multi-professional team to work together closely with the affected family.
Surveillance Recommendations for the Early Detection of Cancer
It is worthwhile considering whether to conduct an ultrasound examination of the abdomen and kidneys every 3 months until the age of 7 because of the increased risk of liver and kidney cancer. Due to the poor prognosis, however, this is a controversial topic.
Self-Care and Support
What should I pay special attention to?
Any new symptom that occurs should be evaluated by the treatment team.