Kitase Yuma, Hayakawa Masahiro, Kondo Taiki, Saito Akiko, Tachibana Takashi, Oshiro Makoto, Ieda Kuniko, Kato Eiko, Kato Yuichi, Hattori Tetsuo, Hayashi Seiji, Ito Masatoki, Hyodo Reina, Muramatsu Yukako, Sato Yoshiaki
Division of Neonatology, Center for Maternal-Neonatal Care Nagoya University Hospital, Nagoya, Japan.
Department of Neonatology, Japanese Red Cross Nagoya Daiichi Hospital, Nagoya, Japan.
Am J Med Genet A. 2017 Oct;173(10):2635-2640. doi: 10.1002/ajmg.a.38371. Epub 2017 Aug 29.
Trisomy 13 (T13) is accompanied by severe complications, and it can be challenging to achieve long-term survival without aggressive treatment. However, recently, some patients with T13 have been receiving home care. We conducted this study to investigate factors related to home health-care transition for patients with T13.We studied 28 patients with T13 born between January 2000 and December 2014. We retrospectively compared nine home care transition patients (the home care group) and 19 patients that died during hospitalization (the discharge at death group). The median gestational age of the patients was 36.6 weeks, with a median birth weight of 2,047 g. Currently, three patients (11%) have survived, and 25 (89%) have died. The home care group exhibited a significantly longer gestational age (38.9 vs. 36.3 weeks, p = 0.039) and significantly larger occipitofrontal circumference Z score (-0.04 vs. -0.09, p = 0.019). Congenital heart defects (CHD) was more frequent in the discharge at death group, with six patients in the home care group and 18 patients in the discharge at death group (67% vs. 95%, p = 0.047), respectively. Survival time was significantly longer in the home care group than in the discharge at death group (171 vs. 19 days, p = 0.012). This study has shown that gestational age, occipitofrontal circumference Z score at birth, and the presence of CHD are helpful prognostic factors for determining treatment strategy in patients with T13.
13三体综合征（T13）伴有严重并发症，若不积极治疗，实现长期存活具有挑战性。然而，最近一些T13患者接受了家庭护理。我们开展这项研究以调查T13患者家庭医疗护理转变的相关因素。我们研究了2000年1月至2014年12月出生的28例T13患者。我们回顾性比较了9例接受家庭护理转变的患者（家庭护理组）和19例在住院期间死亡的患者（死亡时出院组）。患者的中位孕周为36.6周，中位出生体重为2047克。目前，3例患者（11%）存活，25例（89%）死亡。家庭护理组的孕周显著更长（38.9周对36.3周，p = 0.039），枕额周长Z评分显著更高（-0.04对-0.09，p = 0.019）。死亡时出院组先天性心脏病（CHD）更为常见，家庭护理组有6例患者，死亡时出院组有18例患者（分别为67%对95%，p = 0.047）。家庭护理组的生存时间显著长于死亡时出院组（171天对19天，p = 0.012）。这项研究表明，孕周、出生时枕额周长Z评分以及CHD的存在是确定T13患者治疗策略的有用预后因素。
