Trisomy 13 (T13)
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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.
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.