Comparing prenatal and neonatal diagnosis of hemoglobinopathies.
OBJECTIVE
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.
Schoen
E J
EJ
Department of Pediatrics, Kaiser Permanente Medical Center, Oakland, CA 94611-5693.
Marks
S M
SM
Clemons
M M
MM
Bachman
R P
RP
D000465:Algorithms; D002140:California / Q000453:epidemiology; D003362:Cost-Benefit Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control; D006279:Health Maintenance Organizations / Q000191:economics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010865:Pilot Projects; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors