美国佛蒙特州牛津网络极低出生体重儿中的主要染色体异常。
Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network.
机构信息
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
出版信息
J Pediatr. 2012 May;160(5):774-780.e11. doi: 10.1016/j.jpeds.2011.11.005. Epub 2011 Dec 16.
OBJECTIVE
To examine prevalence, characteristics, interventions, and mortality of very low birth weight (VLBW) infants with trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), or triploidy.
STUDY DESIGN
Infants with birth weight 401-1500 g admitted to centers of the Vermont Oxford Network during 1994-2009 were studied. A majority of the analyses are presented as descriptive data. Median survival times and their 95% CIs were estimated using the Kaplan-Meier approach.
RESULTS
Of 539 509 VLBW infants, 1681 (0.31%) were diagnosed with T21, 1416 (0.26%) with T18, 435 (0.08%) with T13, and 116 (0.02%) with triploidy. Infants with T18 were the most likely to be growth restricted (79.7%). Major surgery was reported for 30.4% of infants with T21, 9.2% with T18, 6.4% with T13, and 4.8% with triploidy. Hospital mortality occurred among 33.1% of infants with T21, 89.0% with T18, 92.4% with T13, and 90.5% with triploidy. Median survival time was 4 days (95% CI, 3-4) among infants with T18 and 3 days (95% CI, 2-4) among both infants with T13 and infants with triploidy.
CONCLUSION
In this cohort of VLBW infants, survival among infants with T18, T13, or triploidy was very poor. This information can be used to counsel families.
目的
研究患有 21 三体（T21）、18 三体（T18）、13 三体（T13）或三倍体的极低出生体重（VLBW）婴儿的患病率、特征、干预措施和死亡率。
研究设计
研究了 1994 年至 2009 年期间在佛蒙特牛津网络中心收治的出生体重为 401-1500 克的婴儿。大多数分析均以描述性数据呈现。使用 Kaplan-Meier 方法估计中位生存时间及其 95%CI。
结果
在 539509 例 VLBW 婴儿中，1681 例（0.31%）诊断为 T21，1416 例（0.26%）诊断为 T18，435 例（0.08%）诊断为 T13，116 例（0.02%）诊断为三倍体。T18 患儿最有可能出现生长受限（79.7%）。报道称，30.4%的 T21 患儿接受了重大手术，9.2%的 T18 患儿、6.4%的 T13 患儿和 4.8%的三倍体患儿接受了重大手术。33.1%的 T21 患儿、89.0%的 T18 患儿、92.4%的 T13 患儿和 90.5%的三倍体患儿死亡。T18 患儿的中位生存时间为 4 天（95%CI，3-4），T13 患儿和三倍体患儿的中位生存时间均为 3 天（95%CI，2-4）。
结论
在本项 VLBW 婴儿队列研究中，T18、T13 或三倍体患儿的生存率非常差。这些信息可以用来为患儿家属提供咨询。
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