Torres-Sepúlveda María Del Rosario, Martínez de Villarreal Laura E, Villarreal-Pérez Jesús Zacarías, Ruiz Herrera María Del Consuelo, Arredondo Vázquez Patricia Del Carmen, Treviño-Morales Ana Karen
Universidad Autónoma de Nuevo León, Departamento de Genética, Facultad de Medicina y Hospital Universitario Dr. José Eleuterio González, Monterrey, Nuevo León, México.
Universidad Autónoma de Nuevo León, Servicio de Endocrinología, Facultad de Medicina y Hospital Universitario Dr. José E. González, Monterrey, Nuevo León, México.
Glob Pediatr Health. 2024 Sep 20;11:2333794X241280830. doi: 10.1177/2333794X241280830. eCollection 2024.
. To describe the results of a 16-year experience of a state-coverage expanded newborn screening program (NBSP) in Northeast México. . Between 2002 and 2017, dried blood spots of newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), biotinidase deficiency, galactosemia, cystic fibrosis, and glucose-6-phosphate dehydrogenase (G6PD) deficiency via immunofluorescence and amino and fatty acid disorders and organic acidemias using tandem mass spectrometry. Frequency rates were determined. . Overall, 192 487 samples were processed; 99.4% had negative results, and 598 were diagnosed. The frequency was 3.01/1000 newborns. G6PD deficiency, CH, amino acidemia, organic acidemia, cystic fibrosis, CAH, fatty acid oxidation disorder, galactosemia, and biotinidase deficiency cases were 1:773, 1:962, 1:4277, 1:4476, 1:11,322, 1:10,693, 1:10,693, 1:38,497, and 1:64,162, respectively. . Using different technologies in NBSP increased the number of conditions detected, facilitating infant morbidity and mortality prevention. The frequency of disorders depends on the population's genetic background and diagnostic capacity.
描述墨西哥东北部一项覆盖全州的新生儿筛查项目（NBSP）16年的经验结果。2002年至2017年期间，通过免疫荧光法对新生儿干血斑进行先天性甲状腺功能减退症（CH）、先天性肾上腺皮质增生症（CAH）、生物素酶缺乏症、半乳糖血症、囊性纤维化和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的筛查，并使用串联质谱法检测氨基酸和脂肪酸紊乱以及有机酸血症。确定了发病率。总体而言，共处理了192487份样本；99.4%的结果为阴性，598例被诊断出患病。发病率为3.01/1000新生儿。G6PD缺乏症、CH、氨基酸血症、有机酸血症、囊性纤维化、CAH、脂肪酸氧化紊乱、半乳糖血症和生物素酶缺乏症的病例分别为1:773、1:962、1:4277、1:4476、1:11322、1:10693、1:10693、1:38497和1:64162。在NBSP中使用不同技术增加了检测出的病症数量，有助于预防婴儿发病和死亡。疾病的发病率取决于人群的遗传背景和诊断能力。
