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Alternative Names Return to topEdwards syndrome
Definition Return to top
Trisomy 18 is a genetic disorder associated with the presence of extra material from chromosome 18.
Causes Return to top
Trisomy 18 is a relatively common syndrome affecting approximately 1 out of 3,000 live births. It is three times more common in girls than boys. The syndrome is caused by the presence of an extra material from chromosome 18. The extra material interferes with normal development.
Symptoms Return to top
Exams and Tests Return to top
Examination of the pregnant woman may show an unusually large uterus and extra amniotic fluid. An unusually small placenta may be seen when the baby is born.
Physical examination of the infant may show unusual finger print patterns. X-rays may show a short breast bone. Chromosome studies show trisomy 18, partial trisomy, or translocation.
There are often signs of congenital heart disease, such as:
Tests may also show kidney problems, including:
Treatment Return to top
Medical management of children with Trisomy 18 is planned on a case-by-case basis and depends on the individual circumstances of the patient.
Support Groups Return to top
Outlook (Prognosis) Return to top
Fifty percent of infants with this condition do not survive beyond the first week of life. Some children have survived to teenage years, but with serious medical and developmental problems.
Possible Complications Return to top
Complications depend on the specific defects and symptoms.
When to Contact a Medical Professional Return to top
Call your health care provider and genetic counselor if you have had a child with Trisomy 18 and you plan to have another child.
Prevention Return to top
Prenatal diagnosis of trisomy 18 is possible with an amniocentesis or chorionic villus sampling and chromosome studies on amniotic cells. Parents who have a child with translocational trisomy 18 and want additional children should have chromosome studies, because they are at increased risk to have another child with trisomy 18.Update Date: 7/2/2007 Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.