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患有多种先天性异常的发育正常婴儿:一例报告。

Appropriately grown baby with multiple congenital abnormalities: a case report.

作者信息

Thakkar Devangi, Aladangady Narendra

机构信息

Barts and The London, Queen Mary's School of Medicine and Dentistry, London, United Kingdom.

出版信息

Medscape J Med. 2008;10(9):210. Epub 2008 Sep 9.

PMID:19008972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2580081/
Abstract

We present the case of a full-term baby girl (Baby A) born with multiple congenital abnormalities that were suggested by prenatal scans. The mother had declined further antenatal diagnostic testing. Postnatal chromosomal analyses revealed the karyotype of the baby to be trisomy 18. After detailed, compassionate discussions with the parents, it was decided to provide palliative care in the best interest of the baby, who died on day 15 of life. This case illustrates ethical difficulties in the care of neonates with congenital anomalies with poor prognoses, such as trisomy 18. Recommending palliative care and "do not resuscitate" orders to optimistic parents is extremely difficult and needs to be done in the most sensitive manner possible.

摘要

我们报告一例足月女婴(婴儿A)的病例,产前扫描提示其出生时患有多种先天性异常。母亲拒绝了进一步的产前诊断检测。产后染色体分析显示婴儿的核型为18三体。在与父母进行了详细、充满同情心的讨论后,决定为了婴儿的最大利益提供姑息治疗,婴儿于出生后第15天死亡。该病例说明了在照顾患有先天性异常且预后不良的新生儿(如18三体)时所面临的伦理困境。向乐观的父母推荐姑息治疗和“不要复苏”医嘱极其困难,需要以尽可能敏感的方式进行。

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引用本文的文献

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Involuntary euthanasia of severely ill newborns: is the Groningen Protocol really dangerous?严重患病新生儿的非自愿安乐死:格罗宁根方案真的危险吗?
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本文引用的文献

1
Congenital malformations among liveborn infants with trisomies 18 and 13.18三体和13三体活产婴儿中的先天性畸形。
Am J Med Genet A. 2006 Aug 15;140(16):1749-56. doi: 10.1002/ajmg.a.31382.
2
A new trisomic syndrome.一种新的三体综合征。
Lancet. 1960 Apr 9;1(7128):787-90. doi: 10.1016/s0140-6736(60)90675-9.
3
Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester?超声诊断18三体综合征:在孕中期早期是否可行?
J Ultrasound Med. 1998 May;17(5):327-31. doi: 10.7863/jum.1998.17.5.327.
4
Trisomy 18: Edward's syndrome (a case report of 3 cases).18三体综合征:爱德华兹综合征(3例病例报告)
J Postgrad Med. 1983 Apr;29(2):129-32.