Resources for Clinicians & Researchers

Professional Literature & Clinical Resources

Peer-reviewed research, growth charts, surgery data, and clinical guidance for Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), Trisomy 9, and related rare chromosome disorders. Resources for genetic counseling, prenatal diagnosis, neonatal care, and long-term management.

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Growth Charts & Surgery Data Welcome Letter Medical Board
New — 2026

Advances in Care and Management of Infants and Children with Trisomy 13 and Trisomy 18: A Paradigm Shift

Tamaki, Carey & Kosho — Translational Science of Rare Diseases, March 2026

A comprehensive narrative review documenting the shift toward individualized, family-centered care in Trisomy 13 and Trisomy 18. Includes updated care guidelines, cardiac surgery outcomes data, and a practical shared decision-making framework. Open access.

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AAP Clinical Report — 2025

Guidance for Caring for Infants and Children with Trisomy 13 and Trisomy 18

American Academy of Pediatrics, 2025

Landmark evidence-informed guidance from the AAP reflecting the significant shift in how Trisomy 13 and Trisomy 18 are understood and managed. The most important clinical document in this field in a generation.

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Growth Charts & Surgery Registry

SOFT provides the only known growth curves specific to Trisomy 18 and Trisomy 13, plus data from over 3,000 parent-reported surgeries and procedures to help clinicians counsel families on intervention outcomes.

Access Growth Charts Surgery Registry

AAP Clinical Report & SOFT Summary

The 2025 AAP Clinical Report represents a turning point in how Trisomy 13 and Trisomy 18 are discussed and managed in clinical settings. SOFT has published a plain-language summary for families and clinicians.

AAP Report AAP News SOFT Summary
Professional Literature
St. Louis et al., 2023 — JTCVS
AATS 2023 Expert Consensus: Care of Children with Trisomy 13 or 18 and Congenital Heart Defect
Expert consensus guidance on cardiac surgery candidacy and management for children with Trisomy 13 and Trisomy 18.
Young C., 2020 — Cardiology in the Young
Mixed Method Study of Quality of Life for Children with Trisomy 18 and 13 After Cardiac Surgery
Weaver MS et al., 2018 — Pediatrics
Eliciting Narratives to Inform Care for Infants with Trisomy 18
Family Partnerships section, October 2018.
Domingo L., Carey JC et al., 2018 — Pediatric Cardiology
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18
Kosiv KA et al., 2017 — Pediatrics
Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18
Volume 140, Issue 5. Documents a significant reduction in in-hospital mortality associated with congenital heart surgery.
Peterson JK et al., 2017 — Annals of Thoracic Surgery
Long-term Outcomes of Children with Trisomy 13 and 18 After Congenital Heart Disease Interventions
Costello JP et al., 2015 — Pediatric Cardiology
Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients
Maeda et al., 2011 — Am J Med Genet Part A
The Impact of Cardiac Surgery in Patients with Trisomy 18 and Trisomy 13 in Japan
Review of 134 children with Trisomy 18 and 27 with Trisomy 13 from the Japanese Society of Pediatric Cardiology and Cardiac Surgery.
Kobayashi et al., 2010 — Gen Thorac Cardiovasc Surg
Radical Surgery for a Ventricular Septal Defect Associated with Trisomy
Five female infants with Trisomy 18 underwent full cardiac repair; all survived surgery with an average post-surgery survival of 815 days.
Kaneko Y et al., 2008 — Am J Med Genet Part A
Intensive Cardiac Management in Patients with Trisomy 13 or Trisomy 18
Review of 31 consecutive Japanese infants with Trisomy 13 or Trisomy 18, showing significantly improved survival with active treatment.
Graham et al., 2004 — Am J Cardiol
Effectiveness of Cardiac Surgery in Trisomies 13 and 18 (Pediatric Cardiac Care Consortium)
Report of 35 cardiac surgeries across 48 reporting centers in the US, Canada, and Europe.
Carey JC, 2005 — SOFT Research Newsletter
Health Supervision and Anticipatory Guidance for Infants and Children with Trisomy 18 and 13
Updated from 1993.
Haug S et al., 2017 — JAMA Pediatrics
Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review
Pearson A., 2015 — BMJ
Never Say Never About Our Child
A parent-carer asks healthcare professionals to reconsider the concept of false hope in the context of trisomy diagnoses.
Koogler et al., 2013 — Hastings Center Report
Lethal Language, Lethal Decisions
Examines how conditions no longer uniformly lethal continue to be labeled as such in clinical practice.
Guon et al., 2013 — AJMG
Our Children Are Not a Diagnosis: Parents Who Continue Pregnancy After Trisomy 13 or 18
Volume 164, Issue 2, February 2014.
Janvier A et al., 2012 — Pediatrics
The Experience of Families with Children with Trisomy 13 and 18 in Social Networks
Carey JC, 2012 — Current Opinion in Pediatrics
Perspectives on the Care and Management of Infants with Trisomy 18 and Trisomy 13: Striving for Balance
Janvier A et al., 2011 — Pediatrics
Ethical Rounds: An Infant with Trisomy 18 and a Ventricular Septal Defect
Two neonatologists and an unrelated parent present differing views on care decisions.
McCaffrey M., 2016 — Video
Every Case Is Unique: Optimal Medical Care for Babies Born with Trisomy 13 and Trisomy 18
Dr. Martin McCaffrey speaking at the Perinatal Conference in Dublin, 2016.
Ziogas IA et al., 2024 — Journal of Pediatric Surgery
Management and Outcomes of Hepatoblastoma in Patients with Trisomy 18: A Systematic Review
Jaspersen SL et al., 2022 — AJMG
Seizures in Trisomy 18: Prevalence, Description, and Treatment
Cortezzo D., 2022 — Journal of Pediatrics
Perinatal Outcomes of Fetuses and Infants with Trisomy 18 or Trisomy 13
Lebedoff & Carey, 2021 — AJMG
Parent-Reported Histories of Adults with Trisomy 13
March 2021. DOI: 10.1002/ajmg.a.62165
Weaver MS et al., 2021 — Am J Med Genet A
Interdisciplinary Care of Children with Trisomy 13 and 18
March 2021; 185(3):966-977.
Pyle AK et al., 2018 — Journal of Perinatology
Management Options and Parental Voice in the Treatment of Trisomy 13 and 18
An ethical analysis of whether medical and surgical interventions should be offered to parents of newborns with Trisomy 13 or Trisomy 18.
Kosho T et al., 2013 — Am J Med Genet
Natural History and Parental Experience of Children with Trisomy 18: Japanese Parental Support Group
Baty BJ et al., 1994 — AJMG
Natural History of Trisomy 18 and Trisomy 13: I. Growth, Physical Assessment, Medical Histories, Survival
Includes growth and weight charts. Foundational reference.
Baty BJ et al., 1994 — AJMG
Natural History of Trisomy 18 and Trisomy 13: II. Psychomotor Development
Bierer R et al., 2024 — Am J Med Genet Part C
Parent Narratives Provide Perspectives on the Experience of Care in Trisomy 18
Farmakis SG et al., 2019 — Am J Med Genet A
Solid Tumor Screening Recommendations in Trisomy 18
Bruns DA et al., 2016 — Special Care Dentistry
Oral Health Needs in Trisomy 18 and Trisomy 13: Implications for Dental Professionals
Bruns DA, 2015 — Am J Med Genet Part A
Developmental Status of 22 Children with Trisomy 18 and Eight Children with Trisomy 13
Verrotti A et al., 2015 — Seizure
Epilepsy and Chromosome 18 Abnormalities: A Review
Peron A & Carey JC, 2014 — Wiley Online Library
The Molecular Genetics of Trisomy 18: Phenotype-Genotype Correlations
Cereda A & Carey JC, 2012 — Orphanet Journal of Rare Diseases
The Trisomy 18 Syndrome
Carey JC, 2005 — SOFT Research Newsletter
Health Supervision and Anticipatory Guidance for Infants and Children with Trisomy 18 and 13
Cooper et al., 2019 — J Am Heart Assoc
Cardiac Surgery in Patients with Trisomy 13 and 18: Society of Thoracic Surgeons Database Analysis
DOI: 10.1161/JAHA.119.012349
Cavadino A et al., 2017 — AJMG
Revised Estimates of the Risk of Fetal Loss Following Prenatal Diagnosis of Trisomy 13 or Trisomy 18
Nelson KE et al., 2016 — JAMA
Survival and Surgical Interventions for Children with Trisomy 13 and 18
Boghossian N et al., 2014 — Pediatrics
Mortality and Morbidity of VLBW Infants with Trisomy 13 or Trisomy 18
Carey JC et al., 2014
The Molecular Genetics of Trisomy 18: Phenotype-Genotype Correlations
Kosho T et al., 2006 — Am J Med Genet Part A
Neonatal Management of Trisomy 18: Clinical Details of 24 Patients Receiving Intensive Treatment
Rasmussen SA et al., 2003 — Pediatrics
Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
McGraw et al., 2008 — Pediatrics
Attitudes of Neonatologists Toward Delivery Room Management of Confirmed Trisomy 18
TRIS Project — Ongoing
The TRIS Project: Tracking Rare Incidence Syndromes
An ongoing research project managed by Dr. D.A. Bruns at Southern Illinois University. A range of care and family experience articles available at this link.

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Medical members gain access to our full peer-reviewed library, connection with trisomy-experienced clinicians, and resources for the families you serve. SOFT does not share member information with any outside organization.

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