Trisomy 13 (T13)
If you have received a prenatal test result for your child, we are here to support you. Our services are free. Talk with one of our trained consultants to determine if parent care coordination would be helpful for you.
Definition
Trisomy 13 (T13), or Patau syndrome, is a genetic disorder that occurs when an infant receives an extra copy of chromosome 13 at conception. Chromosomes are the genetic material that determine the growth and functions of human beings. Usually, humans have 2 copies of each chromosome. Humans with Trisomy 13 have 3 copies of chromosome 13. The extra chromosome 13 is associated with a variety of possible medical conditions including heart defects, brain and spinal cord issues, feeding and breathing issues, skeletal abnormalities, cleft lip and/or palate, eye problems, and slow development during pregnancy. Infants with this condition may have variable combinations of these problems. Consistent findings, however, in individuals with Trisomy 13 are severe intellectual and mental disabilities. Trisomy 13 occurs in 1 in 10,000-25,000 live births and is not inherited in most cases.
Screening and Diagnosis
Trisomy 13 is diagnosed prenatally by amniocentesis or chorionic villus sampling (CVS). A positive prenatal biochemical screen (e.g., Quad test), ultrasound scan, or NIPT/NIPS screen indicates the chance of a possibly higher risk for this abnormality. NIPS screens for T13 carry a high false-positive rate (the result says there is a high risk, but there is no risk at all). Therefore, follow-up confirmatory diagnostic testing is recommended to confirm any positive T13 screening result to confirm the risk (a diagnostic test such as amniocentesis, CVS, or newborn screening). Amniocentesis tests the amniotic fluid during the second or third trimester of pregnancy and CVS tests the placenta to confirm a T13 diagnosis. These diagnostic tests pose a 1 in 500 risk of miscarriage.
Treatment/Prognosis
Trisomy 13 is a life-limiting condition associated with a significant risk of mortality and severe disability. Survival is dependent on the associated medical conditions which when they affect the heart, brain, abdomen, or lungs can impact prognoses. Children with T13 should be medically evaluated as individuals. There are studies that show that babies with T13 benefit from active care at birth and in the first months of life, allowing them to live longer lives. Treatment options such as surgeries, medicine, feeding assistance, and breathing assistance to correct physical abnormalities, as well as therapeutic treatment to address motor skills and mental disabilities, can be pursued to manage the baby’s symptoms to improve the quality and length of the baby’s life after birth. The literature reporting on families who pursue medical support for their infants who live beyond 3 months demonstrates these children, while they may undergo more medical procedures than other children, are valued family members, are generally happy, and they have a positive impact on siblings. In addition, families who chose to continue the pregnancy with a child with Trisomy 13 reported they would continue a future pregnancy with a child with Trisomy 13.
Medical advances are continually improving treatment options and outcomes so consulting with specialists and major children’s hospitals may be beneficial to find the best possible care.
Palliative care programs are available to support infants and their families for parents who may not be able to pursue medical interventions for their child with a life-limiting condition. They may ask their medical team for more information about perinatal palliative care programs that are available to them.
Below are additional support resources that may be helpful.
Sources:
Trisomy 13 Syndrome (dovemed.com)
Trisomy 13 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
Trisomy 13 (cincinnatichildrens.org)https://rarediseases.info.nih.gov/diseases/7341/trisomy-13
Amniocentesis - Carrying To Term
Trisomy 13 (Patau Syndrome): Types & Diagnosis | SSM Health
Trisomy 13 (cincinnatichildrens.org)
Trisomy 13 - Carrying To Term
Trisomy 13 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
Glossary of Types of Infant Loss - Google Docs
Malloy C, Wubbenhorst MC, Lee TS. The perinatal revolution. Issues Law Med. 2019 Spring;34(1):15-41. PMID: 31179670.
Guon J, Wilfond BS, Farlow B, Brazg T, Janvier A. Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet A. 2014 Feb;164A(2):308-18. doi: 10.1002/ajmg.a.36298. Epub 2013 Dec 5. PMID: 24311520.
Lebedoff AN, Carey JC. Parent-reported histories of adults with trisomy 13 syndrome. Am J Med Genet A. 2021 Jun;185(6):1743-1756. doi: 10.1002/ajmg.a.62165. Epub 2021 Mar 22. PMID: 33750000.
Diagnosis-Specific Support
Hope for Trisomy 13 and 18 is a nonprofit, tax-exempt 501(c)(3) created in honor and memory of all living and nonliving children with Trisomy 13 and 18 and Related Conditions. The organization is now doing business as simply HOPE FOR TRISOMY to better represent its broader scope. The Board of Directors is made up of families with living and nonliving children with these conditions.
We are a volunteer, not-for-profit organization focusing on trisomy 13 and trisomy 18, (also known as Patau and Edwards syndromes, respectively). Our mission is to offer trisomy 13 and trisomy 18 support groups, physicians and other professionals, accurate information and resources, and to be a mechanism for sharing between groups. The ITA website includes research publications about medical interventions and outcomes for children with trisomy 13 and 18. Some articles describe examples of surviving children who benefit from treatment and surgeries, and live a happy and valued life. Translations of books are available on the website.
Links to family web pages offering information & support to other families Living with Trisomy.
SOFT inspires hope and respects all on their Trisomy journey.
Facebook Groups:
PrenatalDiagnosis.org wants to provide you with a wide range of support including links to helpful Facebook groups. However, we cannot verify the exact content that you will find on Facebook pages and groups, which vary widely by moderator, participants, and topics.
This group is specifically designed for families with children affected by Mosaic Trisomy 13, 18, or any other number. Mosaic children tend to have a wider range of abilities, but unfortunately many parents are still told that their child is "incompatible with life". This group is for you to share achievements, ask questions, and most of all to meet other amazing families and children on this journey. To be considered for membership, you must answer the questions which will automatically be sent to you.
We bless and honor these parents who were given a Trisomy 13 - Patau Syndrome diagnosis at Birth or Prenatally and chose to embrace life and continue their pregnancy, carrying to term or attempting to carry to term their precious child.
This group is for those LWT13 families who've experienced the loss of their child. Some choose comfort care, some were not given the medical care they wished for their child, and some had children live longer who then passed. All experiencing a child gone too soon. Some of these children were here for only minutes - some for many years - all of them dearly loved and treasured.
A Pro-Life Group, Questions Must Be Answered Before Membership Is Approved. This is a continuing pregnancy, life care, and treatment community. Our surviving children have FULL, PARTIAL, TRANSLOCATION, and MOSAIC variations of Trisomy 13 - Patau Syndrome. Our community helps families embrace the journey before them, advocating for their child, With Faith, Hope, Love, Good Medical Care, and Treatment as medical issues arise. ***Be SURE to VIEW this VIDEO*** Also, share with your Professionals if they've not seen it. Dr. Martin McCaffrey speaking at the Perinatal Conference in Dublin, 2016 https://youtu.be/9_wmI0UQLEo