Dried blood spot biomarkers may identify congenital heart disease in newborns
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Key takeaways:
- Researchers developed a method to screen for congenital heart disease in newborns using dried blood spot testing.
- The positive predictive value of this method for identifying high-risk patients was 95.7%.
Biomarkers in dried blood spot testing may help identify congenital heart disease in newborns, according to a study in JAMA Network Open.
The driving force behind the investigation and associated ongoing research was the clinical experience of one of the study authors as a heart specialist for children.
“To be born with a heart defect will change your life forever,” Henning Clausen, MD, MRCPCH, FRACP, a pediatric cardiologist at the Children’s Heart Centre at Lund University in Sweden, told Healio. “It never completely leaves you. That is why this issue matters so much to my colleagues and myself. If you cannot stop it from happening, you might as well try to minimize the impact it has on the life of your patients.”
According to Clausen, research efforts in recent decades have focused on improving the early detection of congenital heart disease and giving infants born with this complex condition access to highly specialized health care, such as open-heart surgery, to prevent heart failure and early death. Clinical presentation of heart disease in newborns may vary, however, and signs and symptoms could be difficult to pick up by current tests and screening programs, so the disease could go unnoticed until an infant becomes unwell, which Clausen called “everyone’s worst nightmare.”
“I can’t remember how many late nights I’ve sat with distraught young parents in an ICU trying to explain to them why their baby has suddenly collapsed because of congenital heart disease when everything seemed ‘just fine’ a day or so earlier,” Clausen said. “With this in mind, I simply thought to myself, ‘We've got to find a better way to diagnose these vulnerable little babies as soon as possible after birth.’”
Clausen and colleagues developed a screening method based on Guthrie card testing, which uses dried blood spot testing to detect rare inborn errors of metabolism, genetic conditions such as sickle cell anemia, or hormone problems.
“The question I posed to my research colleagues was, ‘Why can’t we measure something on these tiny blood droplets that can tell us whether a baby may or may not have a heart problem?’” Clausen said.
The researchers developed blood tests for two cardiovascular biomarkers, checked the levels of these biomarkers in healthy newborns and compared the results in newborns with a variety of high-risk congenital heart disease who needed heart surgery under the age of 1 year.
They analyzed the biomarkers interleukin 1 receptor-like 1 (IL-1 RL1), which has been found in increased levels in patients with worsening heart function; and amino-terminal prohormone of brain natriuretic peptide (NT-proBNP), a natriuretic peptide which has been associated with cardiovascular complications in varieties of congenital heart disease.
Between August 2019 and June 2023, the researchers enrolled 313 Swedish newborns — 217 with congenital heart disease and 96 controls. Among the newborns with congenital heart disease, 89.3% cases were high-risk types, of which only 38.8% were suspected prenatally. Out of these high-risk cases, 50% passed pulse oximetry screening, and 19.1% were initially discharged after birth without diagnoses.
The authors found that, combined, NT-proBNP and IL-1 RL1 had a positive predictive value of identifying high-risk congenital heart disease of 95.7%, a negative predictive value of 88.1%, a sensitivity of 93.6%, and a specificity of 91.8%, with an overall accuracy of 93%.
“We now think that our new screening method is so robust that we want to take the idea further by testing this idea in an even bigger setting before rolling it out to become daily clinical practice in our own or other health care settings,” Clausen said. “The journey continues, and we hope that we will be able to demonstrate more promising research results in the near future.”
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