الملخص
Carnitine-acylcarnitine translocase deficiency with SLC25A20 c.199-10T>G variation is a rare condition, typically associated with severe neonatal outcomes. Recently, preimplantation genetic testing (PGT) has emerged as a screening test applicable to embryos produced through in vitro fertilization for genetic analysis before transfer. Thus, PGT allows for the identification and elimination of embryos carrying inherited genetic diseases. This case report aims to present data from PGT on intervention in the management of SLC25A20 c.199-10T>G variation, particularly in middle-income countries. A 26-year-old woman with a high-risk term pregnancy and a history of two sudden neonatal deaths underwent parental carrier testing, revealing heterozygous SLC25A20 c.199-10T>G variation in both parents. The subsequent pregnancy, identified as a homozygous for SLC25A20 c.199-10T>G mutation, was terminated at 20 weeks. The current pregnancy was successfully managed by in vitro fertilization-selective embryo transfer. Carnitine-acylcarnitine translocase deficiency owing to SLC25A20 c.199-10T>G variation can result in sudden neonatal collapse. Obstetricians should maintain a high index of suspicion in recurrent cases of unexplained early neonatal death. Parental carrier testing is crucial for prenatal management, and selective embryo transfer is a core treatment for heterozygous SLC25A20 gene carriers in this highly lethal disorder.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.5001/omj.2025.17
- المجلة
- مجلة عُمان الطبية, 40(3)
- الناشر
- المجلس العُماني للاختصاصات الطبية
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-NC 4.0
اقتبس هذه المقالة
APA 7
Trinh, N. B., Vuong, A. D. B., & Nguyen, P. N. (2025). Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review. Oman Medical Journal, 40(3). https://doi.org/10.5001/omj.2025.17
MLA 9
Trinh, Ngoc Bich, et al. "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review." Oman Medical Journal, vol. 40, no. 3, 2025. https://doi.org/10.5001/omj.2025.17.
شيكاغو (المؤلف–التاريخ)
Trinh, Ngoc Bich, Anh Dinh Bao Vuong, and Phuc Nhon Nguyen. 2025. "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review." Oman Medical Journal 40 (3). https://doi.org/10.5001/omj.2025.17.
هارفارد
Trinh, N. B., Vuong, A. D. B. and Nguyen, P. N. (2025) 'Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review', Oman Medical Journal, 40(3). doi:10.5001/omj.2025.17.
فانكوفر
Trinh NB, Vuong ADB, Nguyen PN. Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review. Oman Medical Journal. 2025;40(3). doi:10.5001/omj.2025.17
IEEE
N. B. Trinh, A. D. B. Vuong, and P. N. Nguyen, "Successful Management by Selective Embryo in the Carnitine-acylcarnitine Translocase Deficiency with SLC25A20 C.199-10T>G Variation: The First Case Report from Vietnam and Literature Review," Oman Medical Journal, vol. 40, no. 3, 2025, doi: 10.5001/omj.2025.17.