Management of the newborn with congenital malformations and comfort care.

Congenital malformations are among the leading causes of perinatal and infant morbidity and mortality worldwide, affecting about 6% of live births and accounting for more than 300,000 neonatal deaths every year. The most frequent categories include congenital heart defects, central nervous system anomalies, and chromosomal abnormalities, particularly trisomies 21, 18, and 13. Although congenital malformations may occur as isolated findings, they often represent part of a broader syndrome, frequently of genetic origin. Within this spectrum, some conditions are characterized by multiple comorbidities and chronic evolution, while others are compatible only with a short life expectancy. This study, conducted at the Unit Care of Newborns with Congenital Malformations and Comfort Care of Sant’Orsola University Hospital in Bologna, aims to identify effective and sustainable strategies to support families of affected newborns from the moment of diagnosis through the postnatal period and throughout the child’s life. Two research lines are analyzed: (1) the management of complex genetic syndromes, using trisomy 21 as a reference model of chronic congenital condition, and (2) perinatal and neonatal palliative care for life-limiting or life-threatening disorders, exemplified by the Percorso Giacomo program. Findings emphasize the complexity and the wide spectrum of clinical, ethical, and emotional needs associated with these conditions. The care of such patients requires a high level of specialization, continuity of follow-up, and a multidisciplinary team capable of addressing prognostic uncertainty and potentially long hospital stays, especially during the pediatric phase. The strength of the Sant’Orsola model lies in the integration, within a single coordinated team, of advanced basic scientific research alongside clinical research, with the aim of improving both health outcomes and family well-being. Future perspectives focus on consolidating this multidisciplinary framework as a national reference model, ensuring equity of access, continuity of care, and advanced professional training in neonatal and complex palliative care.