Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto, Japan.
Department of Health Informatics, Kyoto University School of Public Health, Kyoto, Japan.
J Hum Genet. 2022 Nov;67(11):623-628. doi: 10.1038/s10038-022-01061-w. Epub 2022 Jul 5.
Although very low birth weight (VLBW) is well studied in neonatology and the perinatal prognosis of VLBW infants has improved over time, little is known about the prognosis of VLBW infants with trisomy 21 (T21). We aimed to investigate the mortality and morbidity of VLBW infants with T21 during NICU admission in Japan, in comparison to those of infants without birth defects (BD-). Maternal and neonatal data of infants weighing 1500 grams or less admitted to the centers of the Neonatal Research Network of Japan from 2003 to 2016 were collected prospectively. Of 60,136 infants, 328 (0.55%) had T21. Although maternal age in the case of T21 infants was higher, maternal complications tended to be less frequent than in those with BD-. Multivariable analysis revealed that morbidities were higher in infants with T21 than in those with BD- but respiratory distress syndrome and retinopathy of prematurity were less frequent in those with T21 (p < 0.001, and p = 0.014, respectively), and no significant difference was observed between the two groups in the proportion of late-onset circulatory collapse of prematurity as well as cystic periventricular leukomalacia (p = 0.739 and p = 0.733, respectively). The survival rate at discharge from the NICU was 77% and 94% for T21 and BD-, respectively. This was the first nationwide survey of VLBW infants with T21 in Japan. Although there were no data regarding the timing of diagnosis, these data will aid prenatal genetic counseling and perinatal management of T21 infants.
虽然极低出生体重（VLBW）在新生儿学中得到了很好的研究，并且 VLBW 婴儿的围产期预后随着时间的推移有所改善，但对于 21 三体（T21）的 VLBW 婴儿的预后知之甚少。我们旨在调查日本新生儿重症监护病房（NICU）收治的 T21 极低出生体重儿的死亡率和发病率，并与无出生缺陷（BD-）的婴儿进行比较。前瞻性收集了 2003 年至 2016 年期间日本新生儿研究网络中心收治的体重 1500 克或以下的婴儿的母婴和新生儿数据。在 60136 名婴儿中，有 328 名（0.55%）患有 T21。尽管 T21 婴儿的母亲年龄较高，但与 BD-婴儿相比，母亲并发症的发生频率较低。多变量分析显示，T21 婴儿的发病率高于 BD-婴儿，但呼吸窘迫综合征和早产儿视网膜病变的发生率较低（p<0.001 和 p=0.014，分别），两组早产儿晚期循环衰竭和囊性脑室周围白质软化症的发生率也无显著差异（p=0.739 和 p=0.733，分别）。NICU 出院时的存活率分别为 T21 组 77%和 BD-组 94%。这是日本首次对 T21 极低出生体重儿进行的全国性调查。虽然没有关于诊断时机的数据，但这些数据将有助于 T21 婴儿的产前遗传咨询和围产期管理。
