Newborn screening for hemoglobinopathies: the benefit beyond the target

新生儿血红蛋白病筛查:超越目标范围的益处

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Abstract

As a result of New York State's Newborn Screening Program 4,565 neonates with trait hemoglobinopathies were identified and 3,200 families were notified of the results of testing their infants in New York City in 1982. Of the 1,531 families (2,190 parents) tested and counseled, 22 parents were diagnosed with sickle cell disease and 39 couples were found to be at-risk for having a child with sickle cell disease. Amniocentesis was performed in 14 of the 28 at-risk pregnant women and three of the four affected pregnancies were terminated. MCH-331001-01 to 04

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