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Purpose: To investigate and compare the clinical manifestation and prognosis of preterm and full-term infants with Down syndrome (DS). Methods: We retrospectively reviewed 80 patients diagnosed with DS and confirmed by chromosomal study at the Samsung Medical Center between January 1994 and July 2014. Data on demographic characteristics, associated anomalies, treatment, prognosis and cause of death were compared between preterm and full-term DS infants. Results: Of the 80 confirmed DS patients, there were 49 (61%) full-term and 31 (38%) preterm DS infants. The mean gestational age of full-term DS infants was 38+1±0+2 weeks (range, 37+0-40+0 weeks) and the mean birth weight was 3,007±418 g (range, 1,930-4,100 g). The mean gestational age of preterm infants was 34+1±2+1 weeks (range, 29+1-36+6 weeks) and the mean birth weight was 2,181±598 g (range, 890-3,500 g). There were no differences in demographics, associated anomalies, mortality or related factors, or the rate of active treatment between full-term and preterm DS infants. Conclusion: In this single center study, the mortality rate of preterm DS infants was comparable to that of full-term DS infants. Larger national cohort studies might be needed to further investigate the prognosis of preterm DS infants.

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