Departmental Bulletin Paper 〈Originals〉Treatment of trisomy 18 at 2 Japanese hospitals during a 10-year period

Marutani, Satoshi  ,  Inoue, Tomohiro  ,  Imaoka, Nori  ,  Ichiki, Miho  ,  Kondou, Hiroki  ,  Miyake, Toshiharu  ,  Shinohara, Tohoru  ,  Mushiake, Sotaro  ,  Takemura, Tsukasa

[Abstract] Introduction. Trisomy 18 is a chromosomal abnormality associated with a poor prognosis. It is difficult to determine the proper treatment for patients with trisomy 18 because of ethical considerations. Materials and methods. We encountered 29 infants with trisomy 18 between 2005 and 2015 at Kindai University Hospital and Kindai University Nara Hospital. Of these, 22 cases, which were treated at our hospitals since their neonatal period, were examined. Results. Of the 22 infants, 13 were male and 9 were female. In 4 cases, a definitive diagnosis of trisomy 18 was made antenatally. The median birth of the 22 infants weight was 1723 g. Ventricular septal defect was present in all infants, Esophageal atresia was noted in 7 patients and omphalocele was observed in 3 patients. Pulmonary artery banding was performed in 4 infants, and a tracheostomy was performed in 4 infants. Twelve infants were discharged at least once. Seventeen infants died, with a median age at death of 3 months. Three of the 5 surviving children are now older than 1 year. A tracheostomy was performed in all 3 children, while pulmonary artery banding was performed for 2 children. The oldest patient is now 7 years of age. Conclusion. Results of treatment of our patients suggest that reduction of pulmonary hypertension by pulmonary artery banding, tracheostomy, and gastrostomy can contribute to an improved prognosis and quality of life of patients with trisomy 18, although these outcomes vary because of concurrent anomalies.

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