A decade of screening in the hemoglobinopathies: is a national program to prevent sickle cell anemia possible?

The increased attention given to sickle cell anemia for the past decade has enhanced public and professional understanding of the disease. The need to counsel a large segment of the general public has resulted in the production of a large amount of informative educational material on the subject. Despite the large amount of effort expended in population screening and counseling, very few studies of the counseling process have been done. It is still not known whether people use the knowledge gained for decisions regarding their reproduction. The development of direct antenatal diagnosis of sickle cell anemia by restriction endonuclease analysis of DNA from amniocytes now makes it possible to make the diagnosis as early as 17 weeks of gestation; use of chorionic villi as a source of DNA may advance the age of allowable diagnosis to 8 weeks. A model program being initiated in Michigan in which screening and counseling is being incorporated into the delivery of obstetrical care is described. Neutral counseling free of coercion will be given. Widespread acceptance of prenatal diagnosis may make general population and newborn sickle cell screening obsolete. Although many women seek obstetrical care too late in pregnancy to avail themselves of the procedure, its availability may have the effect of inducing them to seek care earlier in gestation, thereby improving other aspects of prenatal care. Although many women may currently reject prenatal diagnosis, in time it promises to blunt significantly the effect of sickle cell anemia on public health as well as assure that no couple at risk need have an affected child.