Cell-free DNA Prenatal Screening, Managing Chromosomal Risk, and Distancing Disability

This dissertation explores how cell-free DNA (cfDNA) screening operates in clinical practice and asks what implications there are for meanings of disability. In 2007, the American College of Obstetricians and Gynecologists (ACOG) recommended that all pregnant women, regardless of maternal age, be offered prenatal testing for fetal chromosomal anomaly screening (ACOG, 2007), meaning that, at least in theory, every pregnant woman will be offered a prenatal screening test. An estimated 67 -72% of all pregnancies in 2011 and 2012 were screened for Down syndrome, the most commonly screened-for chromosomal condition, through at least one of several screening methods (Palomaki, Knight, Ashwood, Best, & Haddow, 2013). Though clinical conversations about cfDNA screening and other prenatal screening and diagnostic tests are often short in length (Bernhardt, Doksum, Larson, & Holtzman, 1998; Marteau, Plenicar & Kidd, 1993), the effects of those conversations may be lasting (Rapp, 1999). Prenatal screening/testing’s main ethical, social and legal implications typically center on how informed consent facilitates reproductive choice-making in the case of positive screening results. Most pregnant women, however, do not carry fetuses with chromosomal anomalies. While the regulatory, professional and ethical focus is on women who receive positive results, what cultural work does cfDNA screening do in the “test-negative” space? For these women, reproductive decision-making in the context of prenatal screening/testing carries unique familial stakes that implicate both potential disabled individuals and meanings of disability. Using qualitative methods, including semi-structured interviews, participant-observation and document analysis, I argue that distinctively acting as a proxy for diagnostic certainty, cfDNA screening enables healthcare providers and patients to construct and enact strategies that try to manage chromosomal risk. Taken together, the primary effect of these strategies is that expectant parents distance disability.