COMPARING PRENATAL AND NEONATAL DIAGNOSIS OF HEMOGLOBINOPATHIES

Objectives. To compare the results of prenatal and neonatal hemoglobin opathy screening, a pilot program was developed at the Northern Califo rnia Kaiser Permanente Health Care Program, a prepaid health maintenan ce program serving 2.5 million members. Methods. In this program, 54 7 00 pregnant women were screened for hemoglobinopathies. Results. Of th e 54 700 women screened, 1019 (1.9%) had a hemoglobinopathy trait, and 81 women with at-risk fetuses were identified. Half the women with fe tuses at risk for thalassemia accepted prenatal diagnosis; of those wh ose fetuses were at risk for sickle-cell disease or other hemoglobinop athies, 30% accepted prenatal diagnosis. Of the 81 at-risk couples, 53 refused amniocentesis for definitive fetal diagnosis; only 28 (35%) a ccepted; all 4 women who were carrying a fetus with thalassemia major elected to terminate the pregnancy. Only 7 of the 21 cases of hemoglob inopathies were diagnosed prenatally, 14 were discovered neonatally. C onclusions. Prenatal screening was not found to be an ideal method of identifying hemoglobinopathies of the newborn in this large population . With cost-effectiveness a high priority in health care delivery, we believe that testing of newborns for hemoglobinopathies will continue to be the preferred screening method. A combined prenatal and neonatal program would offer the maximum benefit to patients by adding prenata l counseling, parental options, education, and early complete diagnosi s to neonatal screening.