Department of Specific Pediatric Chronic Disease Information, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Department of Social Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan.
Am J Med Genet A. 2024 Sep;194(9):e63710. doi: 10.1002/ajmg.a.63710. Epub 2024 May 11.
It remains unclear whether recent changes in the prognosis and management of patients with trisomy 13 impact patient survival. We investigated changes in survival of patients with trisomy 13 in Japan. Data from the Vital Statistics Database in Japan was retrieved to examine the association of sex, surgical history, and years of birth and death with changes in survival patterns in 1164 patients with trisomy 13 between 1995 and 2021. The rates of deaths due to trisomy 13 increased from 9.8% to 23.1% in those over 1 year of age and from 7.3% to 19.2% in those within 24 h of birth between 1995 and 2021. The median survival time was longer in 2009-2021 than in 1996-2008 (40 vs. 84 days, p < 0.001). The median survival time and the rate of patients with surgical history increased from 91 days and 16.0% in 1996-2008 to 179 days and 28.0% in 2009-2021, respectively. Median survival time among patients with trisomy 13 has increased over the last 26 years, with almost 1 in 3 patients currently surviving for more than 1 year. The increased surgical intervention rate might have contributed to this improvement.
目前尚不清楚 13 三体患者预后和治疗方式的近期变化是否会影响患者的生存。我们调查了日本 13 三体患者的生存变化。从日本生命统计数据库中检索数据，以检查性别、手术史以及出生和死亡年份与 1995 年至 2021 年间 1164 例 13 三体患者生存模式变化的关系。1995 年至 2021 年，1 岁以上患者因 13 三体导致的死亡率从 9.8%上升至 23.1%，出生 24 小时内患者的死亡率从 7.3%上升至 19.2%。2009-2021 年的中位生存时间长于 1996-2008 年（40 天比 84 天，p<0.001）。1996-2008 年，有手术史的患者中位生存时间和比例分别为 91 天和 16.0%，而 2009-2021 年分别为 179 天和 28.0%。13 三体患者的中位生存时间在过去 26 年中有所增加，目前近 1/3 的患者存活时间超过 1 年。手术干预率的增加可能是导致这一改善的原因。
