The discovery of cell-free fetal DNA (cffDNA) in maternal blood has the potential to dramatically change the current practice of prenatal diagnosis. Scientists have recently used it to develop highly accurate chromosomal tests that offer non-invasive prenatal screening as early as 10 weeks gestation.In December 2010, two independent laboratories demonstrated that a full genome-wide analysis of the fetus could be performed from a sample of maternal blood, making fetal diagnostic testing possible for any known genetic condition. The convergence of cffDNA testing with low cost genomic sequencing will enable prospective parents to have inexpensive access to a wide range of genetic information about their fetus from as early as seven weeks gestation.

While a major medical advance, cffDNA testing also raises significant challenges. Initially, it will strain existing consent, timing, and counseling protocols. It has the potential to expand the number of prenatally diagnosed conditions from 5-10 to over 500. Because cffDNA testing can be performed at or before the first prenatal visit, many providers may have difficulty explaining the expanded range of risks and benefits to patients prior to their decision to test. Many patients may not appreciate the difference between a blood test screening their genome from one testing their fetus', which could have significant consequences.

In the longer term, widespread cffDNA testing also raises significant regulatory questions: 1) how should these tests enter the market?; 2) should all tests be provided by a physician?; and 3) should all tests be available to all individuals at all times? Since states may also wish to limit access to certain tests, cffDNA testing may also challenge our current understandings of constitutionally protected reproductive autonomy. My goal will be to raise a number of ethical, legal and social issues raised by cffDNA testing for discussion by the group.