Newly-developed genetic tests based on restriction fragment length polymorphisms (RFLPs) promise to facilitate the early detection of genetic diseases. Several such tests are now available for the prenatal detection of cystic fibrosis (CF), a common and costly disease. The tests for CF are currently limited to prenatal diagnosis in siblings of a victim of CF. Direct gene probe tests, which have yet to be developed for CF, would be applicable even in families that have not already borne a child with the disease. We examine the costs and benefits of prenatal testing for cystic fibrosis using existing RFLP-based tests and using a hypothetical direct gene probe test. We find that even an expensive RAPbased testing program produces substantial net benefits, because it is applied in pregnancies in which the risk of CF is 25%. If a direct gene probe test is applied in all pregnancies, it will need to be much less expensive to generate net benefits, and it will lead to the abortion of many normal fetuses unless it is highly specific. Because these new tests are likely to generate substantial savings in medical expenditures and to increase lifetime earnings, parents of CF-affected children may be subjected to strong pressures to participate in prenatal testing programs and to abort fetuses that test positive. It is imperative that the ethical dilemmas arising from this promising screening test be discussed openly before it becomes widely available.

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This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.