Case Report: Delivery or not, generalized arterial calcification of infancy in China

Generalized arterial calcification of infancy (GACI) is an extremely rare, often fatal condition characterized by widespread calcification and stenosis of both large and medium-sized arteries. The majority of cases are caused by biallelic variants in the ENPP1 gene, leading to deficiency of an enzyme critical for preventing pathological calcium deposition in arterial walls. The prognosis of GACI is severe, with fetal and infant mortality rates reaching up to 55%. This study reports a GACI case diagnosed at 24 weeks in a 32-year-old woman with a history of miscarriages, whose fetal ultrasound at 24 weeks revealed striking echogenic foci and thickening in the heart and major blood vessels. This prompted a multidisciplinary team to suspect GACI. Following confirmation through amniocentesis and given the poor prognosis, the parents opted to terminate the pregnancy at 26 weeks. This case underscores the critical role of advanced prenatal imaging and genetic analysis in diagnosing GACI. Ultimately, management decisions extend beyond medical science, involving profound ethical and personal considerations for families facing this devastating diagnosis.