Introduction to the newborn screening fact sheets
Introduction to the newborn screening fact sheets
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DOI：
10.1542/peds.2006-1782
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发表时间：
2006-09-01
期刊：
影响因子：
8
通讯作者：
Watson, Michael
中科院分区：
文献类型：
--
作者：
Kaye, Celia I.;Schaefer, G. Bradley;Watson, Michael
新生儿筛查情况说明书最后一次修订是在1996年由美国儿科学会遗传学委员会进行的。由于该领域的进步，包括串联质谱法等技术创新，以及对知情同意等伦理问题的更高认识，这些情况介绍再次进行了修订。这些情况介绍提供信息，以帮助儿科医生和其他护理儿童的专业人员在新生儿筛查公共卫生系统中发挥重要作用。新生儿筛查系统由5个部分组成：（1）新生儿检测;（2）对异常筛查结果进行随访，以便于及时进行诊断检测和管理;（3）诊断检测;（4）疾病管理，需要与医疗之家和遗传咨询协调;（5）不断评估和改进新生儿筛查系统。以下疾病是审查新生儿筛查情况说明书（可查阅www.pediatrics.org/cgi/content/full/118/3/e934）：生物素酶缺乏症、先天性肾上腺增生症、先天性听力丧失、先天性甲状腺功能减退症、囊性纤维化、半乳糖血症、同型胱氨酸尿症、枫糖浆尿症、中链酰基辅酶A脱氢酶缺乏症、苯丙酮尿症、镰状细胞病和其它血红蛋白病，和酪氨酸血症。
Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia.