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Trisomy 18 (Edwards Syndrome) (cont.)

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How is trisomy 18 diagnosed?

Most cases of trisomy 18 are diagnosed prenatally. Standard pregnancy screening during the first and second trimesters including serum markers (plasma protein, beta-hCG, alpha-fetoprotein, unconjugated estriol, and inhibin A) with ultrasound (nuchal translucency and other anatomic abnormalities) can accurately diagnose more than three quarters of all cases. Chorionic villi sampling (CVS) is another genetic-based test that can diagnose trisomy 18. This diagnosis of trisomy 18 is important in order to better prepare parents and caregivers due to the high risk of fetal demise and early postnatal death. There are a number of support groups available to families dealing with these types of issues.

What is the treatment for trisomy 18?

The treatment and management of children with Edwards syndrome is dependent upon the severity of findings. There is no definitive treatment for children with trisomy 18, and there are ethical issues surrounding the management of these newborns due to the high mortality rate and difficulty in predicting which infants will live beyond their first year of life. The major cause of death in many of these infants is sudden death due to neurological instability, cardiac failure, and respiratory failure. For those infants diagnosed with incomplete trisomy 18 or mosaic trisomy 18, management is focused on addressing abnormalities present since they have such a variable prognosis.

What is the life expectancy for someone with trisomy 18?

The average lifespan for infants born with trisomy 18 is 3 days to 2 weeks. Studies show that 60% to 75% of children survive for 24 hours, 20% to 60% for 1 week, 22% to 44% for 1 month, 9% to 18% for 6 months, and 5% to 10% for over 1 year. Therefore, there are quite a few affected children who require significant care and ongoing screening during their lives. Specialists in pediatric development, neurology, and genetics are often helpful with guiding the ongoing care of these children. There are great support groups such as the Support Organization for Trisomy 18, 13 and Related Disorders (SOFT) and the Trisomy 18 Foundation for parents and providers seeking guidance. In addition there is an increasing approach to management which is moving away from pure palliative care into optimizing quality of life. This is due to the increasing evidence that a collaborative model of decision making involving parents and providers is a better way to approach the child with Edwards syndrome.

Medically reviewed by Margaret Walsh, MD; American Board of Pediatrics


Carey, J. C. "Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance." Current Opinion in Pediatrics 24.6 (2012): 672-678.

Cereda, A. and J. C. Carey. "The trisomy 18 syndrome." Orphanet Journal of Rare Diseases 7.81 (2012).

Lorenz, J. M. and G. E. Hardart. "Evolving medical and surgical management of infants with trisomy 18." Current Opinion in Pediatrics 26.2 (2014): 169-176.

Medically Reviewed by a Doctor on 10/26/2016


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