Lefèvre Charles R, Labarthe François, Dufour Diane, Moreau Caroline, Faoucher Marie, Rollier Paul, Arnoux Jean-Baptiste, Tardieu Marine, Damaj Léna, Bendavid Claude, Dessein Anne-Frédérique, Acquaviva-Bourdain Cécile, Cheillan David
Rennes University Hospital Center, 35033 Rennes, France.
Reference Center of Inherited Metabolic Disorders, Clocheville Hospital, 37000 Tours, France.
Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006.
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.
原发性肉碱缺乏症（PCD）是一种脂肪酸氧化障碍疾病，将于2023年初纳入法国新生儿筛查（NBS）项目的扩展范围。由于其病理生理学和广泛的临床谱，这种疾病的筛查具有很高的复杂性。迄今为止，很少有国家对新生儿进行PCD筛查，并且面临着高假阳性率的问题。一些国家甚至已将PCD从其筛查项目中剔除。为了解在新生儿筛查项目中实施PCD的风险和陷阱，我们回顾并分析了文献，以从已经对这种先天性代谢缺陷进行筛查的国家的经验中识别障碍和益处。因此，在本研究中，我们呈现了所遇到的主要陷阱以及PCD新生儿筛查当前做法的全球概述。此外，我们还阐述了法国为实施这一新病症而确定的优化筛查算法。
