Many women and families choose prenatal testing for reasons of “preparation.” This logic also underlies a recent flurry of Down Syndrome Information Act (DSIA) legislation, now passed in 13 states. However, “preparation” likely means very different things to families, clinicians, and support groups, since there are no official definitions or recommendations for it. To improve the information and support offered to families after a prenatal genetic diagnosis, we must first understand their needs, and how existing clinical and social supports meet or fail to meet those needs. By unpacking the concept of “preparation,” documenting the ways that different stakeholders understand this concept, and assessing its impacts, this project will help clear a path toward more coordinated efforts to inform and support families who are expecting a child with a genetic condition.

We plan to pursue our project’s aims through 4 research activities:

  1. An analysis of pre- and post-surveys from a CME course for clinicians on delivering a Down syndrome diagnosis.
  2. A qualitative study of local Down syndrome patient advocacy (observation and interviews) and clinical care (interviews) at each of our three sites, to understand how clinicians and groups support women/families who receive a Down syndrome diagnosis.
  3. A prospective interview study of women/couples who have received prenatal or postnatal diagnoses of Down syndrome. At each of our three sites (North Carolina Triangle area, Boston metropolitan area, and San Francisco bay area), we plan to recruit up to 30 families with a prenatal diagnosis and 20 families with a postnatal diagnosis, and interview each of them 2-3 times (prenatally when possible, 1 month postnatal, 1 year postnatal).
  4. A review of findings and deliberation by an expert panel, to build a model of prenatal preparation that can be adapted to a variety of fetal genetic conditions.

About the study director:

Marsha Michie is an anthropologist and empirical bioethicist whose current research on prenatal cell-free DNA screening is funded by NIH (R00 HG006452). She has co-edited a special journal issue on the ethical and social implications of prenatal cfDNA screening (AJOB Empirical Bioethics 6(1), January 2015), and co-organized two recent meetings on this topic: an ISPD satellite symposium on stakeholder perspectives, including patients/advocates; and a Brocher Foundation two-day workshop on global impacts of cfDNA. She co-founded the Prenatal Information Research Consortium, a coalition of researchers investigating the social, ethical, and legal implications of prenatal and preconceptional testing. Marsha received her PhD in Anthropology at UNC-Chapel Hill in 2010 and received postdoctoral training in ELSI research and bioethics at UNC and Stanford University. She is currently an Assistant Professor at UCSF in the Institute for Health & Aging, the Department of Social & Behavioral Sciences, and the Department of Obstetrics, Gynecology, & Reproductive Sciences. More information available at marshamichie.com.