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

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.

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Publication Details

Journal
Frontiers in Medicine
Published
2026-04-14
DOI
https://doi.org/10.3389/fmed.2026.1761482
Primary Topic
Dermatological and Skeletal Disorders
Type
article
Field-Weighted Citation Impact
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article

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

Lin Li, Yi-Xiang Wang, Qiang Ma, Ying Gu et al.
Frontiers in Medicine
Dermatological and Skeletal Disorders
article

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

Lin Li, Yi-Xiang Wang, Qiang Ma, Ying Gu, Yanxiu Guo
article en

Abstract

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.

Frontiers in MedicineVol. 13
Peking University (CN), Peking University International Hospital (CN)
Good health and well-being
Openalex Percentile: Top 25%
Dermatological and Skeletal Disorders
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