In rare cases, the parent may have a balanced translocation involving chromosome People with a balanced translocation have an increased risk of having a child with partial trisomy 13 again. One of the first questions you may be asked if your baby receives a diagnosis of trisomy 13 is whether you want to continue the pregnancy or pursue intensive intervention if the baby is born with health problems.
During pregnancy, some parents choose to terminate babies diagnosed with trisomy 13 due to the generally poor prognosis and the desire to not prolong the grief of the loss.
Others continue the pregnancy due to personal beliefs against abortion, or because they feel they would rather have some time with the baby, even if it turns out to be short.
The same applies to babies diagnosed after birth—some parents choose comfort care only, while others opt for intensive medical interventions, even though the chances appear slim that the baby will survive infancy.
A study showed that performing congenital heart surgery in babies with trisomy 13 may increase their chances of survival. If your baby has been diagnosed with trisomy 13, you may experience any number of emotions from grief to anger to simply feeling overwhelmed. It's fine to take your time and process the situation before moving forward and making decisions or plans. There is no "right" way to feel and no single "correct" course of action to take with these diagnoses.
You have the right to use your own judgment in making a decision, and the answer ultimately is different for everyone. Regardless of what you decide, it is fine to grieve the loss of the baby you were expecting to have. It can be helpful to join support groups for parents of babies with trisomy 13 or other serious chromosomal disorders.
Get diet and wellness tips delivered to your inbox. US National Library of Medicine. Trisomy Normally, a person has 23 pairs of chromosomes. Chromosomes are the packages of genetic information, made of DNA, that contain the instructions the body uses to build a person.
Chromosomes come in 23 pairs, with most people having 46 total chromosomes. Trisomy 13 is caused when a person has three copies of chromosome 13 instead of the usual two, for a total of 47 chromosomes. All babies that survive with Trisomy 13 have significant intellectual disability usually in the severe range. Full Trisomy The existence of a third copy of chromosome 13 in all of the cells.
Mosaic Trisomy The existence of a third copy of chromosome 13 in some of the cells. Partial Trisomy The existence of a part of a third copy of chromosome 13 in the cells. When a couple has a baby with Trisomy 13, it is usually unexpected. Nevertheless, some risk factors exist. For example, the chance of having a baby with Trisomy 13 is higher in older mothers. In other cases, Trisomy 13 can be inherited due to a familial chromosome rearrangement called a translocation.
Pregnancies at increased risk for Trisomy 13 can be identified through screening tests such as non-invasive prenatal testing NIPT and ultrasound examinations. Both of these advanced diagnostics tests are available at the Cardinal Glennon St.
Louis Fetal Care Institute. The diagnosis can also be confirmed shortly after birth through blood testing. Trisomy 18 or trisomy 13 simply means there are three copies of the 18 chromosome or of the 13 chromosome present in each cell of the body, rather than the usual pair. Trisomy 18 and trisomy 13 are genetic disorders that include a combination of birth defects.
This includes severe intellectual disability, as well as health problems involving nearly every organ system in the body. Unfortunately, most babies born with trisomy 18 or 13 die by age 1. It is important to note that some babies with trisomy 18 or 13 do survive the first year of life.
Therefore, these disorders are not universally fatal. In the absence of any immediate life-threatening problems, accurate predictions of life expectancy are difficult to make. There are a few reports of babies with trisomy 18 or 13 surviving to their teens, however, this is unusual. Trisomy 18 is also called "Edwards syndrome," named after the physician who first described the disorder.
Trisomy 13 is called "Patau syndrome," in honor of the physician who first described it. Usually, each egg and sperm cell contains 23 chromosomes half the normal number i body cells. The union of these cells creates 23 matched pairs, or 46 total chromosomes at the time of fertilization. In this manner, a person receives exactly half of their genetic material from each biological parent. Sometimes, an error occurs when an egg or sperm cell is forming, causing it to have an extra chromosome 18 or 13 inside.
If this egg or sperm cell contributes that extra chromosome 18 to the embryo, then trisomy 18 results. If this egg or sperm cell contributes that extra chromosome 13 to the embryo, then trisomy 13 results. The extra chromosome 18 or 13 can come from either the mother or father.
The features of trisomy 18 and trisomy 13 result from having this extra copy of chromosome 18 or 13 in each of the body's cells. Occasionally, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm; this is called a translocation.
This is the only form of trisomy 18 or 13 that can be inherited from a parent. Sometimes, a parent can carry a "balanced" rearrangement, where chromosome 18 or 13 is attached to another chromosome. Learn More Learn More. Where to Start MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. This website is maintained by the National Library of Medicine.
NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.
This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Trisomy Click on the link to view a sample search on this topic.
Submit a new question I lost a child due to trisomy See answer I have a Robertsonian translocation 13; See answer If we had a fetus that terminated due to trisomy 13, and we took the karyotype test and the mother was determined to be a carrier of the Robertsonian translocation or other translocation , what are the chances another pregnancy would result in a trisomy 13 baby?
See answer Have a question? References References. Trisomy 13 Syndrome. Trisomy Haldeman-Englert C. Best RG, Stallworth J. Patau Syndrome. Genetics Home Reference. Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Philadelphia, PA: Saunders Elsevier; ; Do you know of a review article? Share this content:. Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families.
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