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ADC Online First, published on June 30, 2015 as 10.1136/archdischild-2014-307691 Original article

Timing of diagnosis affects mortality in critical congenital heart disease Luke Eckersley,1 Lynn Sadler,2 Emma Parry,3 Kirsten Finucane,1 Thomas L Gentles1 1

Greenlane Paediatric and Congenital Cardiac Service, Starship Children’s Hospital, Auckland, New Zealand 2 Department of Obstetrics & Gynaecology, National Women’s Hospital, Auckland, New Zealand 3 New Zealand Maternal Fetal Medicine Network, National Women’s Hospital, Auckland, New Zealand Correspondence to Dr Tom Gentles, Paediatric Cardiologist, Green Lane Paediatric and Congenital Cardiac Service, Starship Children’s Hospital, Private Bag 92024, Auckland 1042, New Zealand; [email protected] Received 16 October 2014 Revised 28 May 2015 Accepted 10 June 2015

ABSTRACT Objective Screening for critical congenital heart disease (CHD) with prenatal ultrasound or postnatal pulse oximetry has the potential to improve outcome. To guide screening recommendations, this study aimed to identify the proportion and outcome of major CHD diagnosed before (early) or after (late) postnatal discharge prior to the introduction of postnatal oximetry screening. Design A retrospective, population-based review of all major CHD in New Zealand from 2006 to 2010. The timing of diagnosis relative to discharge and to intervention in critical and non-critical cases with intention to treat was determined, as was the relationship of diagnostic timing to mortality at 1 year of age. Results Late diagnosis occurred in 20% of critical and 51% of non-critical cases. Mortality occurred in 18% of critical vs 8% of non-critical cases. Mortality was lower with an early diagnosis of critical CHD (early diagnosis 16% vs late diagnosis 27%, p=0.04). Isolated critical CHD benefited most from early diagnosis (mortality, early diagnosis 12% vs late diagnosis 29%, p=0.002). Early diagnosis occurred in >90% critical complex CHD and hypoplastic left heart syndrome, 85% d-transposition of the great arteries (d-TGA) and 53% critical left ventricular outflow tract obstruction (LVOTO). Deaths in d-TGA and LVOTO primarily occurred prior to intervention and for dTGA most often when birth was distant from the cardiac centre. Conclusions Excess mortality occurs following late diagnosis of critical CHD, and for d-TGA even with early diagnosis if intervention is not immediately available. Antenatal detection retains an important role in reducing mortality related to critical CHD.

INTRODUCTION

To cite: Eckersley L, Sadler L, Parry E, et al. Arch Dis Child Published Online First: [ please include Day Month Year] doi:10.1136/ archdischild-2014-307691

Congenital heart disease (CHD) is the most common class of congenital anomaly and is responsible for 30–50% of congenital infant mortality.1–3 CHD is often categorised as requiring intervention or resulting in death within 1 year (major CHD∼3/1000 live births) or 4 weeks (critical CHD∼1.2/1000 live births).4–6 Major CHD may not be diagnosed before birth or prior to postnatal discharge. Factors contributing to a later diagnosis may include absence of a murmur, mild hypoxaemia, inadequate training of staff and early postnatal discharge. A delay in diagnosis, particularly of critical CHD, is associated with a significant increase in mortality and morbidity.2 7–9 Screening for CHD aims to avoid late diagnosis. Referral for cardiac evaluation has been guided by universal fetal ultrasound screening in some countries,9–11 and postnatal pulse oximetry screening in many others.2 6 12–15

What is already known on this topic ▸ The timing of diagnosis of critical congenital heart disease (CHD) affects outcome. ▸ This has driven adoption of universal pulse oximetry screening in many jurisdictions. ▸ Fetal screening has received less emphasis and funding.

What this study adds ▸ In New Zealand, there are deaths attributable to late diagnosis of critical CHD. ▸ Many of these deaths occur in conditions where pulse oximetry detection rates are low (coarctation) or where the outcome is adversely affected by birth distant to the surgical centre (transposition). New Zealand has a population of 4.2 million with a birth rate of ∼65 000 per year. There are significant challenges to infant cardiac outcome including the extent of engagement with prenatal ultrasound screening and potential for birth remote from definitive cardiac care. There is no pulse oximetry screening programme. The aim of this retrospective population-based study is to guide delivery of screening services for CHD by estimating how many babies born with major CHD in New Zealand from 2006 to 2010 received a late diagnosis. We examined deaths associated with these late diagnoses to determine whether an improved rate of prenatal diagnosis or universal postnatal pulse oximetry screening might have improved outcome.

METHODS Study population Included were live births, still births and terminations of pregnancy (ToP) in New Zealand from 20 weeks or 400 g (if gestation was unknown) with major CHD from 1 February 2006 to 31 December 2010. CHD was considered major if there was a late ToP or stillbirth, or where the infant underwent cardiac surgery, interventional catheterisation or died at

Timing of diagnosis affects mortality in critical congenital heart disease.

Screening for critical congenital heart disease (CHD) with prenatal ultrasound or postnatal pulse oximetry has the potential to improve outcome. To gu...
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