Pulse oximetry screening and prenatal diagnosis play complementary roles in reducing risks in simple transposition of the great arteries

AimThis study quantified the contribution of pulse oximetry screening to an early diagnosis of simple transposition. We also estimated the proportion of neonates with this life-threatening cardiac defect who could benefit from prenatal diagnosis, even when pulse oximetry screening had been implemented. MethodsThis population-based, retrospective, cohort study of cases born from 2003 to 2013 used data from surgical files, the Swedish Causes of Death Registry and the National Forensic Medicine database. The main outcome measures were early postnatal circulatory instability, pre-operative death, neurological morbidity and risk of discharge before diagnosis. ResultsWe identified 89 cases, including three diagnosed prenatally. Hospitals using pulse oximetry screening diagnosed all 31 neonates before discharge, including seven as a result of screening, but 10 of 55 infants in the nonscreening hospitals were discharged undiagnosed (p=0.017). Prenatal diagnosis could have decreased the risk of early circulatory instability, pre-operative death or neurological morbidity in 12 of the 72 infants born in referring hospitals (17%). There was one pre-operative death and no postoperative deaths at a mean follow-up of 4.7years. ConclusionPulse oximetry screening minimised the risk of discharging infants with transposition, but prenatal diagnosis would have been necessary to avoid early circulatory instability in 17% of cases.