Detection of severe congenital heart defects in live‐born infants in Norway 2017–2020

Abstract

AimThe aims of this nationwide retrospective cohort study were to determine the time and causes of detection of severe congenital heart defects (CHDs) in live‐born infants in Norway between 2017 and 2020.MethodsInformation regarding live‐born infants with severe CHDs was retrieved from national registries and medical records.ResultsA total of 219 776 infants were born in Norway from 01.01.2017 to 31.12.2020. Severe CHDs were diagnosed in 442 (0.2%) infants. Of these, 376 (85%) infants were diagnosed either prenatally (n = 203, 46%) or before discharge from hospital after birth (n = 173, 39%). A total of 56 (13%) infants were discharged with undetected CHDs. Time of detection was unknown in 10 cases (2%). The most frequent undetected CHDs at discharge were coarctation of the aorta/aortic arch hypoplasia (n = 24), atrioventricular septal defect (n = 13), anomalous pulmonary venous connection (n = 5) and coronary artery anomalies (n = 4). Seven (13%) children with undetected CHD experienced circulatory collapse out of hospital.ConclusionMost infants with severe CHDs in Norway were identified prior to hospital discharge. However, some infants were discharged undiagnosed. Awareness of undetected CHDs and immediate cardiac assessment in infants with signs of circulatory failure early in life are still important.

Issue highlights

“…A nationwide Norwegian study by Wik et al. showed that most infants with severe congenital heart diseases (CHD) were identified before they were discharged from hospital, but some infants were still sent home undiagnosed 3 . Meberg comments on the findings and suggests how screening could be improved 4 .…”

We still have a way to go when it comes to detecting critical heart defects

“…The number of missed cases seems to have been fairly stable, about 10%, over time. 1,6,7,12 Although most of them survive, including all the newborn infants in the Wik et al 1 study, there is still potential for some long-term sequelae. As Wik et al 1 found, in agreement with others, 3,6,12,13 coarctation of the aorta and hypoplastic aortic arch are the most frequently missed critical CHDs.…”

“…1,6,7,12 Although most of them survive, including all the newborn infants in the Wik et al 1 study, there is still potential for some long-term sequelae. As Wik et al 1 found, in agreement with others, 3,6,12,13 coarctation of the aorta and hypoplastic aortic arch are the most frequently missed critical CHDs. We need better methods and screening strategies to target these, and the other CHDs that are missed most often.…”

“…Although clinical examinations on their own may detect most CHDs with subnormal arterial oxygen saturation, a significant number of the cases that are missed will be detected by pulse oximetry screening. 6,7,12 The Wik et al 1 study reported that 58% of such cases were duct dependent. In Nordic countries, as well as many others, pulse oximetry screening will normally be undertaken on the first day of life, with the routine clinical examination taking place later on.…”

“…Some newborn infants who are discharged from hospital after birth with an undiagnosed defect will be readmitted with a lifethreatening circulatory collapse. In this issue of Acta Paediatrica, Wik et al 1 Pulse oximetry screening is a simple, accurate, convenient and probably cost-effective way 3 of registering their arterial oxygen saturation, which may be the most important vital parameter in newborninfants.Screeningisundertakenbythenursingstaffaspartof their routine procedures. In most Nordic countries, pulse oximetry screening is performed on apparently healthy newborn infants on the first day of life, often during the first hours, when their condition has stabilised.…”