PEDIATRICS Vol. 92 No. 3 September 1993, pp. 354-357
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Comparing Prenatal and Neonatal Diagnosis of Hemoglobinopathies

Edgar J. Schoen MD1, Susan M. Marks RN, MS2, Monica Moore Clemons RN, MPH2, and Ronald P. Bachman MD1

1 From the Department of Pediatrics and the Regional Perinatal Screening Program, Kaiser Permanente Medical Care Program, Oakland, CA.
2 From the Regional Perinatal Screening Program, Kaiser Permanente Medical Care Program, Oakland, CA.

Objectives. To compare the results of prenatal and neonatal hemoglobinopathy screening, a pilot program was developed at the Northern California Kaiser Permanente Health Care Program, a prepaid health maintenance program serving 2.5 million members.

Methods. In this program, 54 700 pregnant women were screened for hemoglobinopathies.

Results. Of the 54 700 women screened, 1019 (1.9%) had a hemoglobinopathy trait, and 81 women with at-risk fetuses were identified. Half the women with fetuses at risk for thalassemia accepted prenatal diagnosis; of those whose fetuses were at risk for sickle-cell disease or other hemoglobinopathies, 30% accepted prenatal diagnosis. Of the 81 at-risk couples, 53 refused amniocentesis for definitive fetal diagnosis; only 28 (35%) accepted; all 4 women who were carrying a fetus with thalassemia major elected to terminate the pregnancy. Only 7 of the 21 cases of hemoglobinopathies were diagnosed prenatally; 14 were discovered neonatally.

conclusions. 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 prenatal counseling, parental options, education, and early complete diagnosis to neonatal screening.

Key Words: genetic screening • hemoglobinopathies • newborn • mass screening • penicillin • time factors

Submitted on January 4, 1993
Accepted on March 19, 1993