Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.
Most babies born with trisomy 13 or 18 die by age 1. But some babies with these disorders do survive the first year of life. It’s hard to predict how long a child with these disorders might live. There are a few reports of babies with trisomy 13 or 18 surviving to their teens. But this is unusual.
Chromosomes come in sets of 2, or pairs. Most people have 23 pairs of chromosomes in their cells. Trisomy means that a person has 3 of a certain chromosome instead of 2. Trisomy 13 means the child has 3 copies of chromosome number 13. Trisomy 18 means the child has 3 copies of chromosome number 18.
When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes. Half are from the father and half are from the mother.
But sometimes an error occurs when the 46 chromosomes are being divided in half. An egg or sperm cell may keep both copies of chromosome number 13 or 18, instead of just 1 copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome number 13 or 18. If the baby has 3 copies of chromosome number 13, this is called trisomy 13. If the baby has 3 copies of chromosome number 18, this is called trisomy 18. The extra copy of chromosome number 13 or number 18 is present in every cell in the body.
Sometimes the extra number 13 or number 18 chromosome, or part of it, is attached to another chromosome in the egg or sperm. This is called a translocation. This is the only form of trisomy 13 or 18 that may be inherited from a parent. Some parents may have balanced translocation. This means the number 13 or 18 chromosome is attached to another chromosome. But it does not affect their own health.
A rare form is called mosaic trisomy 13 or 18. This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number 13 or 18.
Symptoms can occur a bit differently in each child.
A baby with trisomy 13 may have symptoms such as:
A baby with trisomy 18 may have symptoms such as:
Most babies with trisomy 18 have problems that affect all parts of the body. Heart problems, feeding problems, and infections are what most often lead to death.
Chromosome problems such as trisomy 13 or 18 can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This can also be done by looking at the amount of the baby’s DNA in the mother's blood. This is a noninvasive prenatal screening. These tests are very accurate.
Fetal ultrasound during pregnancy can also show the possibility of trisomy 13 or 18. But ultrasound is not 100% accurate. Problems caused by trisomy 13 or 18 may not be seen with ultrasound.
After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome.
Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.
Severe, often life-threatening health problems occur in both trisomy 13 and trisomy 18. Treatment for complications varies depending on the body organ affected and the severity of the problem. Your child’s healthcare provider will discuss treatment options with you.
Researchers don’t know how to prevent the chromosome errors that cause these disorders. There is no reason to believe a parent can do anything to cause or prevent trisomy 13 or 18 in their child.
If you are younger than 35, the risk of having a baby with trisomy 13 or 18 goes up slightly each year as you get older. After a baby is born with suspected trisomy 13 or 18, a healthcare provider will take a blood sample to do a chromosome analysis (karyotype). This confirms trisomy 13 or 18. This test also shows the chromosome problem that caused the disorder. This information is important in assessing the risk in future pregnancies. Translocation and mosaic trisomy 13 and 18 have different risks for future pregnancies.
Your healthcare provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests in detail. He or she can talk about risks for future pregnancies. The counselor can tell you what tests are available to diagnose chromosome problems before a baby is born.
A diagnosis of trisomy 13 or trisomy 18 can be overwhelming and upsetting. You will face difficult decisions about how to care for your baby. Many babies born with trisomy 13 or trisomy 18 may not live beyond the first few days or weeks of life. So you may have to cope with your baby never coming home from the hospital.
Many resources are available to help you. These include early intervention services, hospice care, social workers, a hospital chaplain or clergy, and genetic counselors. Support groups that include other families dealing with a similar problem can also help you cope with questions and emotions.
If you are caring for your child at home, call your child’s healthcare provider if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider:
Article Last Updated: August 20, 2019
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