Verbsky James, Routes John
Division of Rheumatology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Division of Allergy/Immunology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
Clin Perinatol. 2014 Dec;41(4):1001-15. doi: 10.1016/j.clp.2014.08.017. Epub 2014 Sep 30.
Although newborn screening (NBS) for inborn errors of metabolism has been successfully utilized in the US for decades, only recently has this screening program expanded to include disorders of immunity. Severe combined immunodeficiency (SCID) became the first disorder of immunity to be screened on a population wide basis in 2008. While NBS for SCID has been successful, the implementation of population-based screening programs is not without controversy, and there remain barriers to the nationwide implementation of this test. In addition, as the program has progressed we have learned of new challenges in the management of newborns that fail this screen.
尽管用于先天性代谢缺陷的新生儿筛查（NBS）在美国已成功应用数十年，但直到最近该筛查项目才扩展到包括免疫紊乱疾病。严重联合免疫缺陷（SCID）在2008年成为首个在全国范围内进行筛查的免疫紊乱疾病。虽然针对SCID的新生儿筛查取得了成功，但基于人群的筛查项目的实施并非没有争议，并且在全国范围内实施该检测仍存在障碍。此外，随着该项目的推进，我们了解到了筛查未通过的新生儿管理方面的新挑战。
