Trisomy 18 (cont.)

Medical Author:

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Medical Editor:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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Survival to adulthood is extremely rare in trisomy 18. However, a few reports have described individuals who survived to the teen or early adult years. These young adults require supportive caregiving and are not able to live independently.

Treatment for trisomy 18 is supportive, meaning that the condition cannot be cured, and treatments are directed at prolonging survival and managing complications. Common treatment measures include nutritional support, treatment of infections, transfusions for low blood cell counts, and medications such as diuretics and/or digoxin to manage heart failure. Heart failure and pneumonia are common causes of death in people with trisomy 18.

REFERENCES:

Chen, Harold, and Bruce Buehler. "Trisomy 18." Medscape.com. 11 Aug. 2011. <http://emedicine.medscape.com/article/943463-overview>.

Genetic and Rare Diseases Information Center (GARD). "Trisomy 18." NIH Office of Rare Diseases Research. <http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&DiseaseID=6321>.

Genetics Home Reference. "Trisomy 18." U.S. National Library of Medicine. 30 Jan. 2012. <http://ghr.nlm.nih.gov/condition/trisomy-18>.

"What Is Trisomy 18?" Trisomy 18 Foundation. 2010. <http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis>.

Source: MedicineNet.com
http://www.medicinenet.com/trisomy_18/article.htm