Newborn screening for hemoglobinopathies: the benefit beyond the target.
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
D000755:Anemia, Sickle Cell / Q000175:diagnosis; D003955:Diagnostic Tests, Routine; D005069:Evaluation Studies as Topic; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D037141:Mandatory Programs; D009518:New York; D011247:Pregnancy; D011296:Prenatal Diagnosis