48 - Trends in management of infants with Trisomy 18 admitted to a level IV Neonatal Intensive Care Unit

Poster Number: 48
Publication Number: 48.565

Background: Trisomy 18 (T-18) was previously considered a lethal condition, with near universal death within first few weeks. Invasive medical interventions were considered futile. However, over the last decade, there has been a paradigm shift in the management of infants with T-18 with a range of invasive medical and surgical interventions performed on these infants. This is reflected in changes in survival statistics for infants with T-18.

Objective: To describe the interventions and outcomes of patient with T-18 admitted to our level IV NICU over last 7 years and compare them to our previously published data.

Design/Methods: Retrospective review of electronic medical records of infants with T-18 admitted to the NICU between 2016 to 2022 (Epoch 1) was performed. Demographic data, pregnancy and birth history, hospital course and disposition data were collected. Data for infants with T-18 admitted between 1990 to 2015 (Epoch 2) was obtained from our previously published study and the two groups were compared.

Results: Between 2016 to 2022, 28 infants were admitted to our NICU with T-18. Demographic data, birth and clinical characteristics are summarized in Table 1. 17/28 (60%) infants had positive prenatal screening tests for T-18. Diagnosis was confirmed in 7 infants. Only one infant had DNR order at birth. Congenital cardiac defects were present in all 28 infants, of which the commonest defect was ventricular septal defect. Other major organ defects are summarized in table 1. Percentage of infants receiving invasive medical and surgical interventions as well as survival to discharge was much higher in the last 7 years as compared to the previously published data (table 2). 12/28 (46%) infants were discharged home out of which 5 (42%) required oxygen through nasal cannula, 2 infants required tracheostomy and mechanical ventilation and rest were in room air. Most of the infants who died in epoch 1, died between 1 month to 1 year (median age 2.75 months) while majority of deaths in epoch 2 occurred within the first month.

Conclusion(s): The survival to discharge of patients with T-18 has increased over the last few years with a higher number of infants receiving aggressive medical and surgical interventions. However, majority of the infants still pass away before their first birthday. Infants who undergo major surgeries have prolonged hospitalization and significant morbidities. This data can help improve parental counseling and assist them in making informed decision regarding medical management of their child.