Bos A P, Broers C J, Hazebroek F W, van Hemel J O, Tibboel D, Wesby-van Swaay E, Molenaar J C
Department of Paediatric Surgery, Sophia Children's Hospital, Erasmus University Medical School, Rotterdam, The Netherlands.
Lancet. 1992 Apr 11;339(8798):913-5. doi: 10.1016/0140-6736(92)90940-5.
Trisomy 18 (Edwards' syndrome) presents with characteristic external features as well as life-threatening abnormalities; many of these abnormalities require surgical correction during the neonatal period. Children with trisomy 18 have a very short life expectancy, and all long-term survivors have severe mental retardation. Difficult medical and ethical issues arise over whether or not to institute treatment when a newborn infant with suspected trisomy 18 has a life-threatening anomaly. We studied the policy of treatment in seven patients with clinical Edwards' syndrome. For three, the period of uncertainty was shortened because trisomy 18 was rapidly diagnosed by karyotyping of a bone-marrow aspirate. Four of the patients underwent surgery before the diagnosis of trisomy 18 was confirmed by routine karyotyping in lymphocytes; karyotyping in bone marrow might have allowed invasive treatment to be avoided in three of these. Rapid confirmation of clinically suspected Edwards' syndrome is very important because surgery may then be withheld. A newborn infant with trisomy 18 should be considered as a patient with a hopeless outlook who ought not to be subjected to invasive procedures. The decision to withdraw or withhold treatment should be discussed frankly with the parents. The period of uncertainty can be reduced to a minimum by the use of karyotyping in bone marrow.
18三体综合征（爱德华兹综合征）具有特征性的外部特征以及危及生命的异常情况；其中许多异常情况需要在新生儿期进行手术矫正。18三体综合征患儿的预期寿命非常短，所有长期存活者都有严重智力障碍。当疑似患有18三体综合征的新生儿出现危及生命的异常时，是否进行治疗会引发棘手的医学和伦理问题。我们研究了7例临床诊断为爱德华兹综合征患者的治疗策略。其中3例患者由于通过骨髓穿刺核型分析迅速确诊为18三体综合征，不确定性时期缩短。4例患者在淋巴细胞常规核型分析确诊18三体综合征之前接受了手术；骨髓核型分析可能使其中3例避免了侵入性治疗。快速确诊临床疑似的爱德华兹综合征非常重要，因为这样可能避免手术。患有18三体综合征的新生儿应被视为预后无望的患者，不应接受侵入性操作。应与患儿父母坦诚讨论停止或不进行治疗的决定。通过骨髓核型分析可将不确定性时期减至最短。
