Ethical concerns and future directions in maternal screening for down syndrome

Abstract

T he recent recommendation from the American College of Obstetricians and Gynecologists (ACOG) that every pregnant woman (at any age) be offered a triple screen for Down syndrome marks another major step in genetic screening.’ The triple screen involves assessment of midtrimester level of human chorionic gonadotropin, unconjugated estriol, and cx-fetoprotein in order to assign a numerical risk to the pregnancy for having a fetus with Down syndrome.2,3 Rarely, if ever, has such universal screening been offered and marketed for a single fetal anomaly. The serum a-fetoprotein test has for some time been recommended for detection of neural tube defects.4 These defects include many anomalies, ranging from spina bifida to anencephaly. A number of these anomalies are considered lethal. The absolutely negative prognosis of these fetuses has made such screening acceptable to many, even though many fetuses identified by the screening test can be readily treated for low meningomyeloceles. The triple screen for Down syndrome is the first universal screening effort for a single disorder with a nonlethal prognosis. What does the American College of Obstetricians and Gynecologists’ most recent recommendation mean? It means that should an obstetrician fail to recommend the test and the fetus turns out to have Down syndrome, an attorney can help the pregnant woman obtain millions of dollars in a malpractice suit. It means that we are willing to spend more than 1 billion dollars annually to try to identify the 7,500, or so, fetuses with Down syndrome in utero in a way that will allow termination of all these pregnancies, if choice so dictates5 This figure stems from the recent presentation by Mark Evans, MD, at the American Gynecological and Obstetrical Society meeting in 1994, in which he noted that the full triple screen at their institution costs approximately $190,000 per fetus found with Down syndrome. Between 7,500 and 10,000 fetuses with Down syndrome are present annually in America (as estimated using birth rates and risk rates). The actual figure noted by Evans would lead to a cost in America of $1.425 billion to find only 7,500 such fetuses