Trisomy 13 and trisomy 18 are genetic disorders that cause serious birth defects and health problems. The majority of babies born with these syndromes die by age one, although some survive longer.
Because babies with trisomy 13 or 18 have a short life expectancy, parents should speak with their child’s doctor about whether life-sustaining measures are appropriate.
If you have had a child with trisomy 13 or 18 and plan to have another child, contact your doctor about genetic counseling.
Chromosomes carry genetic information. Infants born with trisomy 13 or 18 have three chromosomes where there should only be two.
A risk factor is something that increases your chance of getting a disease or condition. There are no known ways that parents can cause or prevent their child from being born with trisomy 13 or 18.
There may be some association with advanced maternal age.
The symptoms of trisomy 13 and 18 vary. Most children will have some, but not all of the symptoms listed below. If your child is born with any of these symptoms, do not assume it is due to trisomy 13 or trisomy 18. These symptoms may be caused by other health conditions. Talk to your physician about your concerns.
Symptoms of trisomy 13:
Abnormalities of brain development
Abnormally shaped uterus, in girls
Apnea—prolonged periods when there is no breathing
—a vertical slit in the upper lip (more common than in trisomy 18)
—an abnormal opening in the roof of the mouth
(more common than in trisomy 18)
Extra fingers or toes
Feet with prominent heels
—bulging of tissue or organs through a weak spot or opening in a muscle wall
Low-set ears, unusual in shape
Low birth weight
Severe mental retardation
Small eyes or other abnormalities of the eyes (including a single eye)
—analysis of the cells in the amniotic fluid (the liquid that surrounds the baby during pregnancy)
—a test that uses sound waves to examine the baby
CVS (chorionic villus sampling)—analysis of a sample of cells from the placenta
A physical exam
A chromosome analysis, done by using a blood sample from the baby
There is no specific treatment or cure for trisomy 13 or trisomy 18. Since most babies born with trisomy 13 or 18 have very severe physical problems, treatment may focus on making the child comfortable, rather than prolonging life. Talk to your doctor about whether life-prolonging measures are appropriate for your child.
Children who survive infancy may require the following:
Surgery to correct physical problems
Other types of developmental therapy
There are no known ways to prevent trisomy 13 or trisomy 18. Once these disorders are diagnosed, parents can decide whether to continue or terminate the pregnancy. If you have concerns, talk to a genetic counselor when deciding to have children.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a