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18三体综合征患儿的死亡率和发病率按胎龄和出生体重的差异。

Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18.

作者信息

Imai Ken, Uchiyama Atsushi, Okamura Tomoka, Ago Mako, Suenaga Hideyo, Sugita Eri, Ono Hideko, Shuri Kyoko, Masumoto Kenichi, Totsu Satsuki, Nakanishi Hidehiko, Kusuda Satoshi

机构信息

Department of Neonatology, Maternal and Perinatal Center, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Am J Med Genet A. 2015 Nov;167A(11):2610-7. doi: 10.1002/ajmg.a.37246. Epub 2015 Aug 26.

Abstract

The aim of this study was to clarify the effects of gestational age and birth weight on outcomes of the infants. Medical records of 36 infants with trisomy 18 admitted to Tokyo Women's Medical University Hospital from 1991 to 2012 were reviewed retrospectively. We compared clinical characteristics between term infants (n = 15) and preterm infants (n = 21). There were one very-low-birth-weight (VLBW) term infant (5%) and 12 VLBW preterm infants (80%). Although there were no significant differences in clinical characteristics and provided management between the two groups, none of the preterm infants achieved survival to discharge. On the other hand, 6 of 21 term infants (29%) achieved survival to discharge (P < 0.05). Similar results were obtained for comparisons between the VLBW infants and non-VLBW infants. Multiple logistic regression analysis revealed that shorter gestational age had a more negative impact than lower birth weight to survival to discharge in infants with trisomy 18. In both preterm and term groups, the infants who died before 30 days commonly died of respiratory failure or apnea. Whereas, the infants who survived more than 30 days mostly died of heart failure.

摘要

本研究的目的是阐明胎龄和出生体重对婴儿预后的影响。回顾性分析了1991年至2012年期间入住东京女子医科大学医院的36例18三体综合征婴儿的病历。我们比较了足月儿(n = 15)和早产儿(n = 21)的临床特征。有1例极低出生体重(VLBW)足月儿(5%)和12例VLBW早产儿(80%)。尽管两组在临床特征和所提供的治疗方面无显著差异,但没有早产儿存活至出院。另一方面,21例足月儿中有6例(29%)存活至出院(P < 0.05)。VLBW婴儿与非VLBW婴儿的比较也得到了类似结果。多因素logistic回归分析显示,在18三体综合征婴儿中,胎龄较短对存活至出院的负面影响大于出生体重较低。在早产组和足月儿组中,30天内死亡的婴儿通常死于呼吸衰竭或呼吸暂停。而存活超过30天的婴儿大多死于心力衰竭。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cbc/5049630/2bf080044df8/AJMG-167-2610-g001.jpg

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