A recent meeting in Turin, Italy has seen a group of nine leading neonatology and paediatric cardiology experts agree that pulse oximetry could and should be used in Europe to identify babies with critical congenital heart disease (CCHD) . CCHD is the most common group of congenital abnormalities, affecting between seven and eight of every 1,000 live-born infants . It is an under-diagnosed condition in newborn infants, despite routine antenatal ultrasound and postnatal physical examination procedures . Tragically, this failure to diagnose all affected patients prevents many needy children from receiving potentially life-saving surgery . Pulse oximetry is a highly-specific diagnostic technique  that has the potential to increase CCHD detection rates to over 90% . Consequently, this meeting marks an exciting first step on the road to implementing European-wide guidelines for pulse oximetry CCHD screening in all newborn babies, which in turn has the potential to avert many thousands of preventable infant deaths.
The expert group, chaired by Paolo Manzoni, identified several critical steps for the development and implementation of a set of pulse oximetry CCHD screening guidelines. Firstly, it was agreed that pilot guidelines should be developed and implemented at a national or regional level before a European-wide initiative is launched. These pilot guidelines should be straightforward to follow, easily translatable and adaptable to care paradigms in individual countries. ‘Guideline Champions’ should also be appointed to drive the development of guidelines from conception to implementation. As in the United States, legislation and obligatory follow-up programmes should then be drawn-up to ensure that guidelines are being observed.
Italy and Spain have provisionally been selected to execute the first step of the guideline initiative by developing and implementing pilot guidelines. Decisive action from such an esteemed group of experts featuring world-renowned physicians from countries with established screening programmes, including Gerard Martin (USA), Andrew Ewer (UK) and Anne de-Wahl Granelli (Sweden), inspires hope that European guidelines for pulse oximetry-based CCHD screening may soon become a reality. The successful completion of this meeting is, therefore, a cause for great optimism among neonatologists, future parents and patients across Europe.
More about pulse oximetry
Pulse oximetry is a well-established, non-invasive test, which can reveal the presence of clinically undetectable hypoxaemia, a key hallmark of CCHD. It has been found to increase diagnostic sensitivity (the power to detect a defect if one is present) for CCHD to 76.5%, with a specificity (power to selectively detect CCHD over other conditions) of 99.9% . Concerns about cost , acceptability to parents  and false-positive results , however, have resulted in opposition to the widespread implementation of screening.
- Ewer AK et al. Pulse oximetry screening for congenital heart defects. Lancet 2013; 382 (9895): 856–857
- Knowles R et al. Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis. Health Technology Assessment 2005; 9: 1–152
- Thangaratinam S et al. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet 2012; 30 (379; 9835): 2459–2464
- Ewer A. Review of pulse oximetry screening for critical congenital heart defects in newborn infants. Curr Opin Cardiol 2013; 28 (2): 92–96
- Roberts TE et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a cost-effectiveness analysis. Arch Dis Child 2012; 97: 221–226
- Powell R et al. Pulse oximetry screening for congenital heart defects in newborn infants: an evaluation of acceptability to mothers Arch Dis Child: Fetal Neonatal Ed 2013; 98 (1): F59–63
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