Pulse Oximetry Screening for Total Anomalous Pulmonary Venous Return (TAPVR): Role of Reverse Differential Cyanosis

BACKGROUND: TAPVR is difficult to detect by fetal echocardiography and post-natal physical examination but is amenable to detection by pulse oximetry screening (POxS). New Jersey (NJ) was the first state to implement legislatively mandated newborn pulse oximetry screening (POxS) to detect critical congenital heart defects (CCHDs). Our objective was to evaluate the results of POxS with respect to detection of TAPVR.

METHODS: Implementation and data collection of POxS in NJ began on 8/31/11. Data in this report extend through 3/31/16. Screening results are submitted by birthing facilities in aggregate (2011-2014) or at the individual-level (2015-2016). Clinical characteristics, POxS values, and final diagnoses of infants who fail screening are reported to the NJ Birth Defects Registry (BDR). Three pre-identifying factors distinguished the added value of POxS from standard clinical care: prenatal CHD diagnosis, echocardiogram before POxS or clinical findings warranting a pulse oximetry measurement.

RESULTS: In NJ, 451, 560 live births underwent POxS. 287 infants with failed POxS were reported to the NJBDR, 127 of whom without a pre-identifying factor. 23 (18.1%) infants had previously unsuspected CCHDs and 10 of these had TAPVR. Of TAPVR cases, 7 had reverse differential cyanosis (RDC).

CONCLUSIONS: POxS is very sensitive and specific for detection of TAPVR. Moreover, RDC, commonly thought to occur only in instances of transposition of the great arteries with either coarctation or pulmonary hypertension, is the most common POxS indicator of TAPVR and must not be dismissed as representing artifact.