Alsharhan Hind, Ahmed Amir A, Abdullah Marwa, Almaie Moudhi, Marafie Makia J, Sulaiman Ibrahim, Elshafie Reem M, Alahmad Ahmad, Alshammari Asma, Cyril Parakkal Xavier, Elkazzaz Usama M, Ibrahim Samia M, Elghitany Mohamed, Salloum Ayman M, Yassen Fahmy, Alsafi Rasha, Bastaki Laila, Albash Buthaina
Department of Pediatrics, Health Sciences Centre, College of Medicine, Kuwait University, Safat 13110, Kuwait.
Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser 92426, Kuwait.
Int J Neonatal Screen. 2025 Feb 28;11(1):19. doi: 10.3390/ijns11010019.
Newborn screening for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in Kuwait was initiated in October 2014. Over a 7-year period (January 2015 to December 2021), 43 newborns were diagnosed with VLCAD deficiency out of 356,819 screened, corresponding to an incidence of 1:8290 and 1:5405 among only Kuwaiti newborns. This study represents the first comprehensive review of newborn screening for VLCAD deficiency in Kuwait. The screening process begins with the detection of elevated blood C14:1 levels in dried blood spots, followed by confirmatory testing using dried blood spots acylcarnitine profiling, with or without molecular testing. Furthermore, this study demonstrates that incorporating the C14:1/C2 ratio as a supplementary marker in first-tier testing alongside C14:1 improves the positive predictive value (PPV) of the current newborn screening for VLCAD deficiency. Adding molecular genetic testing for known VLCAD variants as a second-tier strategy to the national program is also recommended to further enhance specificity and improve PPV. Our findings provide evidence that the expanded newborn screening program in Kuwait has successfully facilitated the early detection of VLCAD deficiency, preventing death and disability in affected infants.
科威特于2014年10月启动了针对极长链酰基辅酶A脱氢酶（VLCAD）缺乏症的新生儿筛查。在7年期间（2015年1月至2021年12月），在356,819名接受筛查的新生儿中，有43名被诊断为VLCAD缺乏症，仅在科威特新生儿中的发病率分别为1:8290和1:5405。本研究是对科威特VLCAD缺乏症新生儿筛查的首次全面综述。筛查过程始于检测干血斑中升高的血液C14:1水平，然后使用干血斑酰基肉碱谱分析进行确诊检测，可选择进行或不进行分子检测。此外，本研究表明，在一级检测中将C14:1/C2比值作为C14:1的补充标志物，可以提高当前VLCAD缺乏症新生儿筛查的阳性预测值（PPV）。还建议将已知VLCAD变异体的分子基因检测作为二级策略纳入国家计划，以进一步提高特异性并改善PPV。我们的研究结果证明，科威特扩大的新生儿筛查计划已成功促进了VLCAD缺乏症的早期发现，预防了受影响婴儿的死亡和残疾。
