A reappraisal of amniotic fluid α-fetoprotein measurement at the time of genetic amniocentesis and midtrimester ultrasonography

Objective. To evaluate the contemporary utility of amniotic fluid α-fetoprotein measurement as a complementary test for fetal abnormalities at the time of invasive genetic testing. Methods. A review of amniotic fluid α-fetoprotein test results was conducted to determine the frequency with which elevated α-fetoprotein values added independent diagnostic information and altered clinical management Amniotic fluid specimens processed for α-fetoprotein between 1995 and 1998 were included. Elevated α-fetoprotein cases were classified as either incidental to the fetal abnormality diagnosed or central to the identification of a fetal anomaly on the basis of whether an ultrasonographic examination had already identified the anomaly before amniocentesis. The costs associated with α-fetoprotein testing were used to estimate the expenditure per pregnancy in which elevated α-fetoprotein values would add discriminatory diagnostic value. A hypothetical national cost model was constructed to explore the utility of selective rather than routine amniotic fluid α-fetoprotein measurement. Results. Eighty-two (3%) of 2769 amniotic fluid α-fetoprotein values were elevated. In only 1 instance was the elevated result found to be partially discriminatory (e.g., an established diagnosis of microcephaly with an associated small encephalocele identified after the elevated amniotic fluid α-fetoprotein value prompted repeated ultrasonographic assessment). Sixty-one other neural tube defects were detected by ultrasonography alone (myelomeningocele, n = 28; anencephaly, n = 24; and encephalocele, n = 9). Thus, an elevated α-fetoprotein result added diagnostic precision in only 1 (0.036%) of 2769 cases. Cost estimates suggested that routine amniotic fluid α-fetoprotein assessment resulted in a $219,000 expenditure per informative case. Conclusions. Routine measurement of amniotic fluid α-fetoprotein during amniocentesis may not be warranted in centers with expertise in targeted ultrasonographic imaging.