Mississippi State Department of Health

Trisomy 18 (Edwards Syndrome)


Trisomy 18, known as Edwards Syndrome, is a rare condition resulting from genetic errors on the 18th chromosome. The disorder occurs in approximately 1 in 5,000 live births and much more commonly affects females than males. This disorder often results in physical deformities, defects in internal organs, and severe intellectual and developmental disabilities.

Information in Spanish Information in Vietnamese

Impact on Development

The severity of the impact of Trisomy 18 on development will depend upon the number of cells affected. Some children will have three copies of chromosome 18 in all of their cells (complete trisomy 18) while others have three copies in only some of their cells (mosaic trisomy 18) or extra parts of chromosome 18 attached to another chromosome (partial trisomy 18).

Most children born with Trisomy 18 will have heart defects. Other significant health concerns may include defects in the structure and functioning of various internal organs, including the lungs, kidneys, stomach and intestines. Some will have malformations of the head, neck, face, eye, ears, hands, feet and spine.

In addition, children with Trisomy 18 have slow growth, significant neurodevelopmental delays, especially motor difficulties which impair daily living such as feeding or crying, severe intellectual disabilities, and delayed speech. Some children may also have vision or hearing impairments.

Clinical Course and Life Expectancy

Children with Trisomy 18 often have restricted growth prenatally and continue to have slow growth after birth. Some initial concerns may continue consistently throughout life, improve or worsen, or change in presentation. For example, some children are born with weak muscles which then become rigid.

It is hard to predict how long a child with Trisomy 18 will live. Most children with Trisomy 18 do not live beyond the first two weeks of life and fewer than 10% will live beyond the first year of life typically due to significant heart or lung defects. A small number will reach their teen years but often require continuous care and extensive support for daily living.

Treatment Options

Although there is no cure for Trisomy 18, children may receive treatment to manage their specific symptoms and health conditions based on the decisions of their medical team and family. Initial treatment focuses on stabilization and survival. Some families may opt to focus on palliative or hospice care. Treatment may include surgical repairs or less invasive methods to promote functioning. For example, treatment to address feeding difficulties may include surgically repairing a cleft palate or providing nutrition using a feeding tube, depending upon the needs of the specific child and the joint decision of families and medical professionals. Children with Trisomy 18 who are less medically fragile may receive more developmental services to maximize their functioning and provide the best quality of life possible.

For More Information

Resources for Families

First-Call Programs and Trisomy 18 Hotline

Support Services

Resource Centers or Clearinghouses

National and Local Organizations

Education and Support Programs

Resources for Healthcare Providers

Provider Resources for Trisomy 18

Prenatal Screening Counseling for Families

General Resources

Links referenced on this page
Information in Spanish    http://msdh.ms.gov/msdhsite/index.cfm/41,14810,285,pdf/Trisomy_18_Spanish.pdf
Information in Vietnamese    http://msdh.ms.gov/msdhsite/index.cfm/41,14809,285,pdf/Trisomy_18_Vietnamese.pdf
National Library of Medicine - Medline Plus: Trisomy 18    https://medlineplus.gov/genetics/condition/trisomy-18/
MedicineNet Trisomy 18 (Edwards Syndrome)    https://www.medicinenet.com/trisomy_18_edwards_syndrome/article.htm
National Organization for Rare Disorders Trisomy 18    https://rarediseases.org/rare-diseases/trisomy-18-syndrome/
The Genetic and Rare Diseases Information Center (GARD)    https://rarediseases.info.nih.gov/
Chromosome Disorder Outreach    https://chromodisorder.org/
The E.WE Foundation    https://theewefoundation.org/
Hope for Trisomy    https://www.hopefortrisomy13and18.org/
The Mississippi Division of Medicaid    https://medicaid.ms.gov/medicaid-coverage/how-to-apply/
National Organization for Rare Disorders Trisomy 18    https://rarediseases.org/rare-diseases/trisomy-18-syndrome/
The Chromosome 18 Registry and Research Society    https://www.chromosome18.org/
Trisomy 18 Foundation    https://www.trisomy18.org/
SOFT    https://trisomy.org/
Children and Youth with Special Health Care Needs (CYSHCN)    http://msdh.ms.gov/msdhsite/index.cfm/41,0,163,html ok
First Steps Early Intervention    http://msdh.ms.gov/msdhsite/index.cfm/41,0,74,html ok
Perinatal High Risk Management/Infant Services System (PHRM/ISS)    http://msdh.ms.gov/msdhsite/index.cfm/41,0,106,html ok
American College of Medical Genetics ACT SHEET – Trisomy 18: Positive Cell Free DNA Screen.    https://www.acmg.net/PDFLibrary/Trisomy-18.pdf
Prenatal Diagnosis for Congenital Malformations and Genetic Disorders: Practice Essentials, Noninvasive Techniques, Invasive Techniques    https://emedicine.medscape.com/article/1200683-overview
Medscape Trisomy 18    https://emedicine.medscape.com/article/943463-print
Prenatal Genetic Screening Tests    https://www.acog.org/womens-health/faqs/prenatal-genetic-screening-tests
Genetic Disorders    https://www.acog.org/womens-health/faqs/genetic-disorders
Prenatal Genetic Testing Chart    https://www.acog.org/womens-health/infographics/prenatal-genetic-testing-chart
3 Questions to Ask Yourself Before Getting Prenatal Genetic Testing    https://www.acog.org/womens-health/experts-and-stories/the-latest/3-questions-to-ask-yourself-before-getting-prenatal-genetic-testing
Cereda, A., and Carey, J.C. (2012). The trisomy 18 syndrome. Orphanet Journal of Rare Diseases, 7(81).    https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-81
https://doi.org/10.1371/journal.pmed.1003356;    https://doi.org/10.1371/journal.pmed.1003356
https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1003356    https://journals.plos.org/plosmedicine/article?id=10.1371
Goel N, Morris JK, Tucker D, et al. Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis. Am J Med Genet A. 2019;179(12):2382-2392. doi:10.1002/ajmg.a.61365    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848757/
https://doi.org/10.1542/peds.2017-2607    https://doi.org/10.1542/peds.2017-2607
Lipkin, P.H., Okamoto, J., and the Council on Children with Disabilities and the Council on School Health. The Individuals With Disabilities Education Act (IDEA) for Children With Special Educational Needs. Pediatrics 2015;136;e1650. DOI: 10.1542/peds.2015-3409;    https://pediatrics.aappublications.org/content/pediatrics/136/6/e1650.full.pdf
UpToDate: Evidence-based Clinical Decision Support provides the latest evidence and best practices for clinicians    https://www.wolterskluwer.com/en/solutions/uptodate

Resources referenced
Information in Spanish    https://msdh.ms.gov/msdhsite/index.cfm/41,14810,285,pdf/Trisomy_18_Spanish.pdf ok
Information in Vietnamese    https://msdh.ms.gov/msdhsite/index.cfm/41,14809,285,pdf/Trisomy_18_Vietnamese.pdf ok

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