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Background <p>Idiopathic infantile arterial calcinosis, also known as generalised arterial calcinosis of infancy (GACI), is a rare genetic disorder causing extensive premature calcification of major vessels. About 200 cases have been reported till date as per literature (Mulcahy CH, Mone F, McAuliffe FM, et al. J Congenit Heart Dis. 2019;3:1. <a href="https://doi.org/10.1186/s40949-018-0022-1">https://doi.org/10.1186/s40949-018-0022-1</a>), and only less than 10 cases have been reported to be diagnosed during prenatal period by ultrasound</p> Case Description <p>Hyperechogenicity of large vessels in the antenatal ultrasound helps in the prenatal diagnosis of this disease. Patient with positive history of IIAC in index pregnancy, unexplained death during neonatal, or early infancy period can undergo molecular testing for diagnosis in early gestation.</p> Conclusion <p>Genetic counselling and pre-implantation genetic diagnosis can be offered to these parents for their future pregnancies.</p>

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Prenatal Diagnosis of Idiopathic Infantile Arterial Calcinosis: A Case Report on a Rare Fatal Condition

  • 期刊论文

  • 发表日期：

    2026年3月12日

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  • K. Sukanya,
  • Sindhujha Sekar,
  • Nirmala Jaget

摘要

Background

Idiopathic infantile arterial calcinosis, also known as generalised arterial calcinosis of infancy (GACI), is a rare genetic disorder causing extensive premature calcification of major vessels. About 200 cases have been reported till date as per literature (Mulcahy CH, Mone F, McAuliffe FM, et al. J Congenit Heart Dis. 2019;3:1. https://doi.org/10.1186/s40949-018-0022-1), and only less than 10 cases have been reported to be diagnosed during prenatal period by ultrasound

Case Description

Hyperechogenicity of large vessels in the antenatal ultrasound helps in the prenatal diagnosis of this disease. Patient with positive history of IIAC in index pregnancy, unexplained death during neonatal, or early infancy period can undergo molecular testing for diagnosis in early gestation.

Conclusion

Genetic counselling and pre-implantation genetic diagnosis can be offered to these parents for their future pregnancies.