Congenital Heart Disease Flagged By Heel Stick Blood?
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Congenital heart disease (CHD) is the most common congenital malformation in humans worldwide. Circulating cardiovascular biomarkers could potentially improve the early detection of CHD, even in asymptomatic newborns.

This study aimed to assess the performance of a dried blood spot (DBS) test to measure the cardiovascular biomarker amino terminal fragment of the prohormone brain-type natriuretic peptide (NT-proBNP) levels in newborns and to compare DBS with standard EDTA analysis in control newborns during the first week of life.

This diagnostic study was conducted in a single regional pediatric service in southern Sweden. Healthy, term neonates born between July 1, 2018, and May 31, 2019, were prospectively enrolled and compared against retrospectively identified newborns with CHD born between September 1, 2003, and September 30, 2019. Neonates who required inpatient treatment beyond the standard postnatal care were excluded. New DBS test for NT-proBNP quantification in newborns that used 3 micro litre of blood vs the current screening standard were carried out.

Results:
-- The DBS samples of 115 neonates (81 control newborns and 34 newborns with CHD, of whom 63 were boys and the mean gestational age was 39.6 weeks were analyzed.

-- The new NT-proBNP test alone identified 71% (24 of 34) of all CHD cases and 68% (13 of 19) of critical CHD cases as soon as 2 days after birth.

-- Detection of any CHD type improved to 82% (28 of 34 newborns) and detection of critical CHD improved to 89% (17 of 19 newborns) when combined pulse oximetry screening and NT-proBNP test results were used.

-- Performance of the NT-proBNP test was excellent when control newborns were matched to newborns with CHD born between July 1, 2018, and May 31, 2019.

Conclusively, this study found that NT-proBNP assay using minimal DBS samples appears to be timely and accurate in detecting CHD in newborns and to discriminate well between healthy newborns and newborns with various types of CHD. This finding warrants further studies in larger cohorts and highlights the potential of NT-proBNP to improve neonatal CHD screening.

Source: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2773467
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