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Trisomy 18

Trisomy 18 is a genetic disorder in which a person has a third copy of material from chromosome 18, instead of the usual 2 copies.

Causes

Trisomy 18 occurs in 1 in 6,000 live births. It is 3 times more common in girls than boys.

The syndrome occurs when there is extra material from chromosome 18. The extra material affects normal development.

Symptoms

Symptoms may include:

Exams and Tests

An exam during pregnancy may show an unusually large uterus and extra amniotic fluid. There may be an unusually small placenta when the baby is born. A physical exam of the infant may show unusual fingerprint patterns. X-rays may show a short breast bone.

Chromosome studies will show trisomy 18. The chromosome abnormality may be present in every cell or present in only a certain percentage of the cells (called mosaicism). Studies may also show part of the chromosome in some cells. Rarely, part of the chromosome 18 becomes attached to another chromosome. This is called translocation.

Other signs include:

There are often signs of congenital heart disease, such as:

Tests may also show kidney problems, including:

Treatment

There are no specific treatments for trisomy 18. Which treatments are used depend on the person's individual condition.

Support Groups

Support groups include:

  • Support Organization for Trisomy 18, 13 and Related Disorders (SOFT): www.trisomy.org
  • Trisomy 18 Foundation: www.trisomy18.org
  • Hope for Trisomy 13 and 18: www.hopefortrisomy13and18.org

Outlook (Prognosis)

Half of infants with this condition do not survive beyond the first week of life. Nine out of 10 children will die by 1 year of age. Some children have survived to the teenage years, but with serious medical and developmental problems.

Possible Complications

Complications depend on the specific defects and symptoms.

When to Contact a Medical Professional

Genetic counseling can help families understand the condition, the risks of inheriting it, and how to care for the person.

Prevention

Tests can be done during pregnancy to find out if the child has this syndrome.

Genetic testing is recommended for parents who have a child with this syndrome and who want to have more children.

Alternative Names

Edwards syndrome

Images

References

Bacino CA, Lee B. Cytogenetics. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 81.

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Update Date 8/1/2015

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