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. They include a combination of birth defects, such as severe learning problems and health problems that affect nearly every organ in the body.
Most babies born with trisomy 13 or 18 die by the time they are 1 year old. There is no reason to believe a parent can do anything to cause or prevent trisomy 18 or 13 in their child. A diagnosis of trisomy 13 or 18 can be overwhelming and upsetting.
These include early intervention services, hospice care, social workers, a hospital chaplain or clergy, genetic counselors, and support groups. At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. General — hypotonia. Chest — absent breast buds.
Extremities — short broad hands, fifth finger clinodactyly, fifth finger single flexion crease, single palmar crease, wide gap between first and second toe. Document specialty consultations e. Report whether autopsy pathology findings are available and if so, report the results. Help Center. Links with this icon indicate that you are leaving the CDC website. Linking to a non-federal website does not constitute an endorsement by CDC or any of its employees of the sponsors or the information and products presented on the website.
The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome. There is no cure for Down syndrome.
But a child with Down syndrome may need treatment for problems such as:. Heart defects. About half of babies with Down syndrome have heart defects. Some defects are minor and can be treated with medicines. Others may need surgery. All babies with Down syndrome should be looked at by a pediatric cardiologist.
Babies with Down syndrome should also have an echocardiogram. This is a test that looks at the structure and function of the heart by using sound waves. This exam and test should be done in the first 2 months of life.
This is so that any heart defects can be treated. Intestinal problems. Some babies with Down syndrome are born with intestinal structure problems that need surgery. Vision problems. Common problems include crossed eyes, nearsightedness or farsightedness, and cataracts. Most eyesight problems can be made better with eyeglasses, surgery, or other treatments.
Your child should see an eye doctor pediatric ophthalmologist before he or she turns 1 year old. Hearing loss. This is caused by fluid in the middle ear, a nerve defect, or both. Your child should get regular hearing tests so any problems can be treated early. This will help with language development. Other health problems. Children with Down syndrome may have thyroid problems and leukemia. They also tend to have many colds, as well as bronchitis and pneumonia. Your child should get regular medical care and stay up to date on vaccines.
Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells.
In these people, the condition is called mosaic trisomy The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents.
An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body. Translocation trisomy 13 can be inherited.
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