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. 2021 Mar;66(3):273-285. doi: 10.1038/s10038-020-00825-6. Epub 2020 Sep 17.
Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with no birth defects (BD-). Maternal and neonatal data were collected prospectively from infants weighing <1501 g and were admitted to centers of the Neonatal Research Network of Japan during 2003 to 2016. Among 60,136 infants, 563 and 60 was diagnosed with T18 and T13, respectively. Although the age of mothers of infants with T18/T13 was higher, the frequency of maternal complications was lower than those with BD-. With maternal and neonatal characteristic adjustments, T18/T13 had a higher incidence of each morbidity when compared with BD-. Mortality rates in the NICU were 70, 77, and 5.8% for T18, T13, and BD-, respectively, while the survival discharge rates of T18 and T13 were 29.5 and 23.3%, respectively, which was significantly higher than previous reports. This was the first nationwide survey for VLBW infants with T18/T13 in Japan; this novel data will be relevant and useful for prenatal genetic counseling and perinatal management. Although T18/T13 were considered to be fatal in the past, with proper epidemiological information, discussions with affected families, and compassionate patient care, the mortality rate of T18/T13 can be improved.
18 三体综合征（T18）和 13 三体综合征（T13）是产前遗传检测中需要关注的主要问题，因为它们的预后较差；极低出生体重（VLBW）也是新生儿学中的关注点。本研究旨在调查在日本，与无出生缺陷（BD-）的婴儿相比，诊断为 T18/T13 的 VLBW 婴儿的死亡率和发病率，收集了 2003 年至 2016 年期间在日本新生儿研究网络中心体重<1501g 的婴儿的前瞻性母婴和新生儿数据。在 60136 名婴儿中，分别有 563 名和 60 名婴儿被诊断为 T18 和 T13。尽管 T18/T13 婴儿的母亲年龄较大，但母亲并发症的频率低于 BD-婴儿。经母婴和新生儿特征调整后，与 BD-相比，T18/T13 每种发病率的发生率更高。NICU 的死亡率分别为 T18 为 70%、T13 为 77%和 BD-为 5.8%，而 T18 和 T13 的存活出院率分别为 29.5%和 23.3%，明显高于以往报道。这是日本首例 T18/T13 极低出生体重儿的全国性调查；这些新数据将为产前遗传咨询和围产期管理提供相关且有用的信息。尽管 T18/T13 在过去被认为是致命的，但有了适当的流行病学信息、与受影响家庭的讨论和富有同情心的患者护理，T18/T13 的死亡率可以得到改善。
