Delayed diagnosis of critical congenital cardiovascular malformations (CCVM) and pulse oximetry screening of newborns.

OBJECTIVE: Congenital cardiovascular malformations (CCVMs) are relatively common with a prevalence of 5-10 per 1000 live births. Pulse oximetry screening is proposed to identify newborns with critical CCVMs which are missed by routine prenatal ultrasound and by pre-discharge physical examinations. The purpose of this study was to identify the number of infants with a delayed diagnosis of critical CCVMs potentially detectable by pre-discharge pulse oximetry screening.

PATIENTS AND METHODS: Hospital Discharge records in New Jersey from 199-2004 for infants with critical CCVMs were identified using ICD-9 codes. These records were matched to the Electronic Birth Certificate records to identify newborns who were discharged as normal newborns and were later admitted with a diagnosis of critical CCVMs. Chart review was completed on these cases to confirm a delay in diagnosis.

RESULTS: Chart reviews confirmed delayed diagnosis of critical CCVM in 47 infants out of 670,245 births. Coarctation of the Aorta was the most common delayed diagnosis. The age at final diagnosis varied from 3 days to 6.5 months.

CONCLUSIONS: Further examination of pulse oximetry as a routine newborn screening service is warranted. Implementation of pre-discharge pulse oximetry screening for newborns may improve the timely detection of asymptomatic critical CCVMs.