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PubMed This is a summary of 67 peer-reviewed journal articles Updated
Cardiology · Trisomy 13

Trisomy 13 (Patau syndrome): A Patient Guide

At a Glance

Trisomy 13 (Patau syndrome) affects multiple body systems, but each child’s course is different. Genetic subtype, medical needs, and family goals help guide shared decisions about active treatment, palliative care, comfort, and quality of life.

Trisomy 13, also known as Patau syndrome, is a rare genetic condition that occurs when a child is born with extra genetic material from the 13th chromosome. This extra material alters the fundamental “blueprint” of early development, leading to complex differences in how the body and brain are formed [1].

While this diagnosis is profoundly life-altering, the specific journey for each child varies. A critical factor is the genetic subtype: whether the extra chromosome is present in all cells tested (Full Trisomy), only a percentage of cells (Mosaic Trisomy), or whether the extra material is physically attached to another chromosome (Translocation Trisomy), which can involve the entire chromosome or just a partial segment [2][3].

Because the 13th chromosome carries instructions for many of the body’s vital systems, Trisomy 13 is a multisystem condition. It commonly affects the development of the brain, often through a structural spectrum called holoprosencephaly, and frequently involves anatomical differences in the heart, face, and respiratory system [4][5]. These differences can lead to significant health challenges from the moment of birth, including difficulties with breathing and feeding, as well as severe long-term developmental and cognitive disabilities [6][7].

In recent years, the medical understanding of Trisomy 13 has undergone a significant and compassionate shift. The condition is no longer viewed as “uniformly lethal” in all cases—a label that once automatically closed the door to many medical options [8]. While mortality rates remain high in infancy, some children survive for months or years with intensive care, and many families find deep meaning and connection in their child’s life [9][10][11].

This change in perspective has moved standard care toward a shared decision-making model, where families and doctors work as partners [12]. Care for a child with Trisomy 13 is not an “all or nothing” choice between comfort and treatment. Instead, families can integrate palliative care—which focuses on quality of life and symptom relief—alongside active medical or surgical interventions [13][14]. This modern approach recognizes that every child is an individual and every family’s values are unique, ensuring that the care plan is built around the dignity and comfort of the child.

In this guide

6 chapters

01

Understanding Your Trisomy 13 Diagnosis

Learn what a Trisomy 13 diagnosis means, including survival statistics, affected organs, treatment options, palliative care, and shared decisions with your team.

02

Genetics, Subtypes, and Your Test Results

Learn how Trisomy 13 subtypes appear on karyotype and microarray reports, why translocation testing matters, and how genetic counseling guides recurrence risk.

03

Physical Features and Anatomical Differences

Learn about Trisomy 13 physical features, including brain, heart, facial, kidney, and abdominal differences, plus questions to ask your child’s care team.

04

Preparing for Birth and the NICU

Learn how to prepare for a Trisomy 13 birth and NICU stay, including birth plans, breathing and feeding support, palliative care, and planning care at home.

05

Medical and Surgical Interventions

Learn about Trisomy 13 surgery options, including heart surgery, tracheostomy, and G-tubes, plus risks, home care needs, and comfort-focused decisions.

06

Long-term Management and Daily Life

Learn how families manage long-term Trisomy 13 care, including development, breathing, seizures, feeding, communication, support services, and quality of life.

Common questions in this guide

What is Trisomy 13 (Patau syndrome)?
Trisomy 13, also called Patau syndrome, is a genetic condition in which a child has extra material from chromosome 13. This can affect development of the brain and multiple body systems, including the heart, face, and respiratory system.
What do full, mosaic, and translocation Trisomy 13 mean?
Full Trisomy 13 means the extra chromosome is present in all cells tested, while mosaic Trisomy 13 means it is present in only some cells. Translocation Trisomy 13 means the extra material is attached to another chromosome and may involve all or part of chromosome 13. The subtype helps doctors and families understand the genetic finding, but each child’s course can still vary.
What health problems can a child with Trisomy 13 have?
Trisomy 13 can affect brain development, sometimes including a structural brain-development condition called holoprosencephaly, and can cause differences in the heart, face, and respiratory system. Babies may have trouble breathing or feeding, and children may have severe developmental and cognitive disabilities.
Is Trisomy 13 always fatal?
Trisomy 13 has a high risk of death during infancy, but it is not uniformly fatal in every case. Some children survive for months or years. The expected course varies with the child’s medical needs, genetic subtype, and other individual factors.
What treatments and care choices are available for Trisomy 13?
Care can include active medical or surgical interventions, intensive care, palliative care, or a combination of these approaches. Palliative care focuses on comfort, symptom relief, and quality of life and can be provided alongside treatment. Families and clinicians use shared decision-making to build a plan around the child’s needs and family’s values.
How can families make care decisions for a child with Trisomy 13?
Families can discuss their goals for the child’s care and comfort with the medical team and ask how different options may affect quality of life. Shared decision-making allows families and doctors to work as partners, while coordinated support from cardiology, neurology, and other specialists can help organize care. Emotional and logistical resources may also help families manage the diagnosis.

Get notified when new evidence is published on Trisomy 13 syndrome.

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References

References (14)
  1. 1

    Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

    Springett A, Wellesley D, Greenlees R, et al.

    American journal of medical genetics. Part A 2015; (167A(12)):3062-9 doi:10.1002/ajmg.a.37355.

    PMID: 26347425
  2. 2

    Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

    Ludorf KL, Benjamin RH, Shumate CJ, et al.

    JAMA network open 2025; (8(9)):e2529885 doi:10.1001/jamanetworkopen.2025.29885.

    PMID: 40920381
  3. 3

    Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

    Morán-Barroso VF, Cervantes A, Rivera-Vega MDR, et al.

    Molecular genetics & genomic medicine 2021; (9(9)):e1762 doi:10.1002/mgg3.1762.

    PMID: 34288579
  4. 4

    Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

    Létard P, Guimiot F, Dupont C, et al.

    American journal of medical genetics. Part A 2018; (176(11)):2325-2330 doi:10.1002/ajmg.a.40505.

    PMID: 30328679
  5. 5

    Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States.

    Greenberg JW, Kulshrestha K, Ramineni A, et al.

    The Journal of pediatrics 2024; (268()):113955 doi:10.1016/j.jpeds.2024.113955.

    PMID: 38340889
  6. 6

    Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.

    Nishi E, Takasugi M, Kawamura R, et al.

    American journal of medical genetics. Part A 2018; (176(9)):1941-1949 doi:10.1002/ajmg.a.40350.

    PMID: 30152146
  7. 7

    Prognostic factors, psychomotor development and life of trisomy 13 patients.

    Yamagishi H, Osaka H, Monden Y, Kono Y

    Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e15369 doi:10.1111/ped.15369.

    PMID: 36168767
  8. 8

    Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report.

    Pyle AK, George TN, Cummings JJ, et al.

    Pediatrics 2025; (156(2)) doi:10.1542/peds.2025-072719.

    PMID: 40685149
  9. 9

    Survival and Surgical Interventions for Children With Trisomy 13 and 18.

    Nelson KE, Rosella LC, Mahant S, Guttmann A

    JAMA 2016; (316(4)):420-8 doi:10.1001/jama.2016.9819.

    PMID: 27458947
  10. 10

    Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study.

    Glinianaia SV, Rankin J, Tan J, et al.

    Archives of disease in childhood 2023; (108(6)):461-467 doi:10.1136/archdischild-2022-325068.

    PMID: 36882305
  11. 11

    Mixed method study of quality of life for children with trisomy 18 and 13 after cardiac surgery.

    Weaver MS, Birge N, Hsu H, et al.

    Cardiology in the young 2020; (30(2)):231-237 doi:10.1017/S1047951120000013.

    PMID: 31964456
  12. 12

    Medical and Ethical Considerations Related to Viable Fetuses with Trisomy 13 in the 36th Week of Pregnancy--a Review of the Literature.

    Pawelec M, Dżugalik M, Pietras J, et al.

    Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2015; (24(5)):911-21 doi:10.17219/acem/26324.

    PMID: 26768645
  13. 13

    A Case Study of Trisomy 13: Balancing Hope and Reality.

    Stafford CO

    Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2015; (15(4)):285-9 doi:10.1097/ANC.0000000000000208.

    PMID: 26225597
  14. 14

    Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

    Zanin A, Patti M, Rosato I, et al.

    European journal of pediatrics 2025; (184(3)):194 doi:10.1007/s00431-025-06020-z.

    PMID: 39937286

This page is for informational purposes only and does not constitute medical advice. Your child’s medical team can help interpret the Trisomy 13 diagnosis and make care decisions that fit your family’s goals.