Care of children with trisomy 18 in Japan

Management of neonates with trisomy 18, a common and important chromosomal syndrome, is controversial. Withholding or withdrawal of intensive treatment (cesarean, resuscitation, respiratory support, and surgery) has been recommended because of the short life span (median survival time: 10–15 days; survival at age 1 year 5–10% [Rasmussen et al., 2003]) and profound mental retardation by many in the medical literatures [Bos et al., 1992; Paris et al., 1992]. Some authors indicated that management should be individualized and intensive treatment could be considered, placing significant weight on parental decision making in the context of the ‘‘best interests of the child’’ [Carey, 2005; Jones, 2006]. Cardiac surgery, an emblematic procedure of intensive treatment, has not been considered to be justified in infants with trisomy 18 by most institutes throughout the world. The most commonly cited evidence is based on the population-based study in the Northern sector of the Northern and Yorkshire Health Region [Embleton et al., 1996], showing that central apnea was the most common mode of deaths and that cardiac defects had been implicated in deaths in only 9% of patients, who had hypoplastic left heart and whose median survival time was 2 days. The modes of deaths in the others were described as ‘‘never stabilized’’ in 26% (median survival time: 4 hr), ‘‘apnea’’ in 29% (5 days), ‘‘episodic cyanosis’’ in 12% (3 days), ‘‘sepsis’’ in 9% (5 months), ‘‘extubation’’ in 9% (3 days), and ‘‘unknown’’ in 6% (28 days). We showed, based on the data from Nagano Children’s Hospital, Japan, improved survival (median survival time 152.5 days; survival rate at age 1 year 25%) of patients with trisomy 18 who received intensive treatment consisting of resuscitation including intratracheal intubation, appropriate respiratory support, establishment of enteral nutrition including corrective and palliative surgery for gastrointestinal malformation, and pharmacological intervention for cardiac lesions. The common underlying factors associated with deaths were congenital heart defects and heart failure (96%), followed by pulmonary hypertension (78%); the common final modes of deaths were sudden cardiac or cardiopulomonary arrest (26%) and progressive pulmonary hypertension-related events (26%) [Kosho et al., 2006]. Supposedly, both of these two studies did show ‘‘natural history’’ of patients with trisomy 18, with the former indicating that of patients on whom intensive treatment was withheld or withdrawn once the diagnosis was made and the latter showing that of patients who received intensive treatment without cardiac surgery. In this volume, Kaneko et al. [2008] from Tokyo, Japan, show significantly improved survival of patients with trisomy 13 or 18 (median survival time 238 days; survival rate at age 1 year 29% for 7 patients with trisomy 18) through intensive cardiac management including pharmacological intervention for ductal patency and cardiac surgery. To my knowledge, this is the first series, which attempts to discuss efficacy of intensive cardiac treatment including surgery for patients with trisomy 13 or 18, although the sample size is small. Worldwide readers of this journal may be interested in Japanese physicians’ attitudes toward critically sick neonates like trisomy 18. In thisInvited Comment, I describe a brief history of how these patients have been treated and cared in Japan. In 1987, Nishida from Tokyo reviewed ethical issues in perinatal and neonatal medicine in Japan. In the article, Nishida reported data of a questionnairebased analysis of ethical issues in neonatal medicine. The survey, administered to 35 leading neonatologists, was designed to demonstrate the circumstances of treating and caring for critically sick neonates at that time in Japan: treatment had been