Grover R, Shahidi S, Fisher B, Goldberg D, Wethers D
Am J Public Health. 1983 Mar;73(3):249-52. doi: 10.2105/ajph.73.3.249.
The newborn screening program mandated by the New York State Public Health Law requires that every baby born in the state be tested for eight conditions including sickle cell anemia. Although sickle cell screening of newborns has been in operation since 1975, the follow-up program for case retrieval to obtain repeat blood samples for definitive diagnosis and referral of diagnosed patients for ongoing medical care was established only in 1979. Of the 106,565 blood samples tested in New York City Newborn Screening Laboratory, March 1, 1979 to February 29, 1980, 141 infants were identified on repeat blood testing as having various forms of sickle cell disease (SS, SC and S beta-Thalassemia) and were referred for ongoing medical care. Data received on 131 patients from follow-up clinics revealed that the disease diagnosis made by the Newborn Screening Laboratory was confirmed in all patients. There were no deaths reported among the study patients (131 infants) followed for the period of 8-20 months despite the life-threatening complications among eight patients. Binomial distribution of the data on Black infants according to the Hardy-Weinberg equation showed reasonable agreement between the observed and computed incidence of various forms of sickle cell disease.
纽约州公共卫生法规定的新生儿筛查项目要求该州每一名新生儿都要接受包括镰状细胞贫血在内的八种疾病的检测。尽管自1975年起就开展了新生儿镰状细胞筛查,但用于病例检索以获取重复血样进行确诊,并将确诊患者转介至持续医疗护理的后续项目直到1979年才建立。在1979年3月1日至1980年2月29日期间,纽约市新生儿筛查实验室检测了106,565份血样,其中141名婴儿在重复血检中被确定患有各种形式的镰状细胞病(SS、SC和Sβ地中海贫血),并被转介至持续医疗护理。从后续诊所收到的131名患者的数据显示,新生儿筛查实验室做出的疾病诊断在所有患者中都得到了证实。在为期8至20个月的随访期间,研究患者(131名婴儿)中没有报告死亡病例,尽管有8名患者出现了危及生命的并发症。根据哈迪-温伯格方程对黑人婴儿数据进行的二项分布显示,各种形式的镰状细胞病的观察发病率与计算发病率之间具有合理的一致性。