Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment

Am J Med Genet A. 2006 May 1;140(9):937-44. doi: 10.1002/ajmg.a.31175.


Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment. To delineate the natural history of trisomy 18 managed under intensive treatment, we reviewed detailed clinical data of 24 patients with full trisomy 18 admitted to the neonatal intensive care unit of Nagano Children's Hospital, providing intensive treatment to those with trisomy 18, from 1994 to 2003. Cesarean, resuscitation by intubation, and surgical operations were performed on 16 (67%), 15 (63%), and 10 (42%) of the patients, respectively. Mechanical ventilation was required by 21 (88%), and 6 (29%) of them were extubated. Survival rate at age 1 week, 1 month, and 1 year was 88%, 83%, and 25%, respectively. Median survival time was 152.5 days. Respiration was not stabilized in two patients with left diaphragmatic eventration and hypoplasia accompanied by lung hypoplasia, even with maximal ventilation. The common underlying factors associated with death were congenital heart defects and heart failure (96%), followed by pulmonary hypertension (78%). The common final modes of death were sudden cardiac or cardiopulmonary arrest (26%) and possible progressive pulmonary hypertension-related events (26%). These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Birth Weight
  • Cause of Death
  • Chromosome Disorders / genetics
  • Chromosome Disorders / mortality
  • Chromosome Disorders / therapy*
  • Chromosomes, Human, Pair 18 / genetics*
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • Prognosis
  • Survival Analysis
  • Survival Rate
  • Trisomy / diagnosis
  • Trisomy / genetics*