la Marca Giancarlo
Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Newborn Screening, Biochemistry and Pharmacology laboratory, Meyer Children's University Hospital, Florence, Italy.
J Pharm Biomed Anal. 2014 Dec;101:174-82. doi: 10.1016/j.jpba.2014.03.047. Epub 2014 Apr 28.
Newborn screening (NBS) program is a complex and organized system consisting of family and personnel education, biochemical tests, confirmatory biochemical and genetic tests, diagnosis, therapy, and patient follow up. The program identifies treatable metabolic disorders possibly when asymptomatic by using dried blood spot (DBS). During the last 20 years tandem mass spectrometry (TMS) has become the leading technology in NBS programs demonstrating to be versatile, sensitive and specific. There is consistent evidence of benefits from NBS for many disorders detected by TMS as well as for congenital hypothyroidism, cystic fibrosis, congenital adrenal hyperplasia by immune-enzymatic methods. Real time PCR tests have more recently been proposed for the detection of some severe combined immunodeficiences (SCID) along with the use of TMS for ADA and PNP SCID; a first evaluation of their cost-benefit ratio is still ongoing. Avoiding false negative results by using specific biomarkers and reducing the false positive rate by using second tier tests, is fundamental for a successful NBS program. The fully integration of NBS and diagnostic laboratories with clinical service is crucial to have the best effectiveness in a comprehensive NBS system.
新生儿筛查（NBS）项目是一个复杂且有组织的系统，由家庭和人员教育、生化检测、生化和基因确诊检测、诊断、治疗以及患者随访组成。该项目通过使用干血斑（DBS），在无症状时识别可治疗的代谢紊乱。在过去20年中，串联质谱（TMS）已成为NBS项目中的领先技术，显示出其通用性、敏感性和特异性。有一致的证据表明，NBS对通过TMS检测出的许多疾病以及通过免疫酶法检测出的先天性甲状腺功能减退、囊性纤维化、先天性肾上腺皮质增生有益。最近有人提出使用实时PCR检测来检测一些严重联合免疫缺陷（SCID），同时使用TMS检测腺苷脱氨酶（ADA）和嘌呤核苷磷酸化酶（PNP）SCID；对其成本效益比的首次评估仍在进行中。通过使用特定生物标志物避免假阴性结果，并通过使用二线检测降低假阳性率，是成功开展NBS项目的基础。NBS和诊断实验室与临床服务的充分整合对于在全面的NBS系统中实现最佳效果至关重要。
