Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing

Recent rapid changes in prenatal care have resulted from the discovery that cell-free fetal DNA (cffDNA) circulates in the maternal bloodstream during pregnancy (Lo et al. 1997). The discovery of cffDNA in maternal serum, combined with sequencing and bioinformatic techniques, has allowed the detection of an anomalous number of chromosomes in a developing fetus (Chiu et al. 2008; Fan et al. 2008). For the first time, clinicians can offer genetic testing in the prenatal period without using invasive procedures, such as amniocentesis, that carry a slight risk of miscarriage. Noninvasive prenatal testing (NIPT) is recognized by professional societies as a highly sensitive, non-diagnostic screening test (American College of Obstetricians and Gynecologists [ACOG] 2012; Benn et al. 2013). For some chromosomal aneuploidies, especially trisomies 13, 18, and 21, NIPT has a sensitivity and specificity in excess of 95% (Bianchi et al. 2014). Microdeletions and single-gene disorders may also be detected with NIPT through microarray, whole genome sequencing, or targeted single-nucleotide polymorphism (SNP) analysis (Fan et al. 2012; Juneau et al. 2014; Kitzman et al. 2012; Rabinowitz et al. 2014). While these techniques allow for a more detailed examination of the fetal genome, they also bring into the prenatal period many of the debates and ethical concerns previously associated with pediatric and adult sequencing (Donley, Hull, and Berkman 2012; Tabor et al. 2012). Intimately bound up with technological questions regarding NIPT are many ethical questions, and this special issue of AJOB Empirical Bioethics addresses a wide range of these issues. The articles that follow represent emerging empirical work on the ethical issues that are raised by NIPT, heightened by its rapid clinical implementation, and contextualized within the larger landscape of prenatal testing. Here, we summarize a few of these concerns and provide an overview of the articles in this issue.