Trisomy 18 and the possibility of choice: The importance of Perinatal Hospice’s support

Trisomy 18 is a severe aneuploidy associated with multiple malformations and a poor prognosis. The diagnosis is typically made prenatally, leading to a high rate of pregnancy terminations. The aim of this study is to demonstrate that even though the prognosis is heterogeneous, prolonged survival is possible and these children are an enrichment for their families after all. A retrospective, descriptive and monocentric study was conducted on fetuses diagnosed with trisomy 18, evaluated between March 2017 and June 2023 at our Institution. The objective was to investigate the natural history of trisomy 18 and the psychological impact on parents who choose to carry the pregnancy on, through a retrospective data collection and the use of a questionnaire. Sixteen couples with a diagnosis of trisomy 18 were cared for within the Perinatal Hospice Pathway during the study period. Cardiac defects were identified in 93.7% of cases, structural abnormalities in 71.4%, respiratory defects in 14.3% of the fetuses, while genitourinary defects affected nearly half of the study population. The survival rate was typically less than one day, however two babies survived for more than four years. All couples reported being satisfied with their decision to continue the pregnancy and would do so again if given the opportunity.Conclusions: despite the severity of the diagnosis, couples may choose to continue the pregnancy and give birth. Our study shows that trisomy 18 is not merely a lethal condition and the Perinatal Hospice plays a crucial role in supporting these families.