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Am J Med Genet A. 2014 Mar;164A(3):610-9. doi: 10.1002/ajmg.a.36318. Epub 2013 Dec 20.

Twenty-two survivors over the age of 1 year with full trisomy 18: presenting and current medical conditions.

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  • 1Southern Illinois University Carbondale, Carbondale, Illinois.


The purpose of the study is to provide data about 22 survivors over the age of 1 year with full trisomy 18 (12-59 months). Mothers completed the online, mixed method Tracking Rare Incidence Syndrome (TRIS) Survey provides data on birth information (e.g., gestational age, birth weight) and medical conditions identified at birth and at the time of survey completion. Data indicate similar birth characteristics to other studies and presence of syndrome related medical conditions including cardiac conditions, use of a variety of feeding methods, apnea, respiratory difficulties, and kidney issues. Associated interventions, sometimes considered "aggressive" or "intensive" treatments including cardiac surgeries were noted in the sample. Implications for treatment are provided and the need for additional research with this clinical subgroup is needed.


apnea; cardiac conditions; feeding method; kidney issues; medical interventions; trisomy 18

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