When a Low Score Is a Good Thing

This series of research stories told by young researchers was born from the PhD Storytelling initiative, which brought together doctoral candidates with science communication experts from the University of Bologna and professionals from UGIS (Italian Union of Scientific Journalists). This article was written by Ylenia Bartolacelli, PhD candidate at the Department of Medical and Surgical Sciences

Imagine how you’d feel during those hours of waiting if, right after birth, your baby was taken to intensive care to be monitored - and possibly undergo cardiac surgery. It would be exhausting. The aim of our research was to reduce, as much as possible, the number of families forced to endure this trauma in cases of uncertain prenatal diagnoses that lead us, as doctors, to carry out tests that may be necessary but are emotionally challenging.

THE ROLE OF PRENATAL DIAGNOSIS
We often talk about technological advancement, and with pride we adopt new tools to identify many diseases early on. Even in the foetal stage, for instance, a routine morphology scan - usually carried out between the 19th and 22nd week of pregnancy - can reveal whether the baby’s heart is developing normally.

However, certain ultrasound findings may cast doubt on the prenatal assessment. In some cases, the baby - the much-anticipated child the couple has been waiting for - might be at risk of developing a condition known as aortic coarctation.

This is a severe narrowing, almost a complete blockage, of the aorta - the main artery that carries blood from the heart to the rest of the body. If the obstruction is significant, the organs located downstream from the narrowing may suffer from poor blood flow, leading to ischaemia, or tissue death. Just as a wheat field wilts when irrigation fails, a lack of blood flow can lead - within days, if not treated - to the death of the patient.

A LIMBO OF UNCERTAINTY
But why, before birth, can we have doubt but never certainty? Because in utero there is a structure, present in all foetuses and essential during gestation, known as the ductus arteriosus. This vessel allows blood to bypass the narrowing and flow from the heart to the aorta, masking any potential coarctation. As a result, diagnosis can only be confirmed after birth.

To determine whether the condition will actually develop, the newborn must be closely monitored until the ductus arteriosus closes completely. This closure occurs in nearly all babies within the first few days of life, although the timing may vary. Until it closes, we remain in a diagnostic limbo.

Coarctation can only be definitively diagnosed once the ductus has closed. This is why, during pregnancy (when the ductus is always open), certain features can justifiably raise suspicion - though confirmation must come later.

THE COMOD MODEL
Our research group identified which echocardiographic parameters are most strongly associated with an increased risk of developing aortic coarctation. Based on this, we created a predictive model called COMOD (COarctation MODel), which uses specific data points to generate a score indicating the likelihood that the condition will develop and require surgical intervention.

By using this kind of scoring system, we can identify high-risk patients and admit them to intensive care for close monitoring. At the same time, we allow lower-risk newborns to remain with their parents, scheduling follow-up assessments without the urgency or stress of hospitalisation.

PROMISING DATA
The model still needs to be validated on a larger sample of patients, but so far the results are promising. Our system has correctly predicted - with 93% accuracy - which babies would go on to develop coarctation and eventually need surgery.‌

In this way, we offer new parents the chance to begin life as a family, together, holding their baby close - even if the baby is already collecting scores. In this case, though, the lower the score, the happier everyone is.