ABSTRACT
PURPOSE: To provide information about neonatal experiences for newborns with full trisomy 18 (t18).
SUBJECTS: Mothers of 21 newborns with full t18 (13 survivors; 8 who died prior to mothers' participation in the study).
DESIGN: Mixed method, descriptive, online survey.
METHODS: Subjects completed an online survey. Data were downloaded into an SPSS database. Descriptive statistics were used to analyze resulting data.
MAIN OUTCOME MEASURES: Subjects' responses on Tracking Rare Incidence Syndromes survey.
PRINCIPAL RESULTS: Newborns presented with syndrome-related physical characteristics (eg, low-set ears, small jaw) and medical conditions (eg, heart defects). Gestational age was generally older than what is described in the existent literature. In the NICU, newborns were provided with a variety of equipments (eg, nasal cannula, pulse oximeter) and received treatments including blood transfusions and echocardiograms. Data also indicate longer survival rates (103.3 months for survivors, 37.5 months for nonsurvivors) than that described in the literature.
CONCLUSIONS: Data indicate presence of common presenting physical and medical characteristics and varied medical assistance to newborns with full t18.