AVOIDANCE OF EMERGENCY-SURGERY IN NEWBORN-INFANTS WITH TRISOMY-18
AVOIDANCE OF EMERGENCY-SURGERY IN NEWBORN-INFANTS WITH TRISOMY-18
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DOI：
10.1016/0140-6736(92)90940-5
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发表时间：
1992-04-11
期刊：
影响因子：
168.9
通讯作者：
MOLENAAR, JC
中科院分区：
文献类型：
--
作者：
BOS, AP;BROERS, CJM;MOLENAAR, JC
18三体（爱德华氏综合征）表现出特征性的外部特征以及危及生命的异常;这些异常中的许多需要在新生儿期进行手术矫正。患有18三体综合征的儿童的预期寿命很短，所有长期幸存者都有严重的智力迟钝。当一个疑似18三体综合征的新生儿出现危及生命的异常时，是否要进行治疗会产生困难的医学和伦理问题。我们研究了7例临床爱德华综合征患者的治疗策略。对于三个，不确定期缩短了，因为18三体通过骨髓穿刺的核型分析快速诊断。4例患者在常规淋巴细胞核型分析确诊为18三体之前接受了手术;骨髓核型分析可能使其中3例患者避免了侵入性治疗。快速确认临床怀疑的爱德华兹综合征非常重要，因为手术可能会被拒绝。患有18三体的新生儿应被视为前景无望的患者，不应接受侵入性手术。应与父母坦率地讨论退出或暂停治疗的决定。通过使用骨髓核型分析，可以将不确定性的时间减少到最低限度。
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.