Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Kate Wilson, MS, CGC

Committee Member

Syed Hashmi, PhD, MPH, MD

Committee Member

Alfredo Gei, MD

Committee Member

Lara Friel, MD, PhD

Committee Member

Stephen Daiger, PhD


Prenatal diagnosis is traditionally made via invasive procedures such as amniocentesis and chorionic villus sampling (CVS). However, both procedures carry a risk of complications, including miscarriage. Many groups have spent years searching for a way to diagnose a chromosome aneuploidy without putting the fetus or the mother at risk for complications. Non-invasive prenatal testing (NIPT) for chromosome aneuploidy became commercially available in the fall of 2011, with detection rates similar to those of invasive procedures for the common autosomal aneuploidies (Palomaki et al., 2011; Ashoor et al. 2012; Bianchi et al. 2012). Eventually NIPT may become the diagnostic standard of care and reduce invasive procedure-related losses (Palomaki et al., 2011). The integration of NIPT into clinical practice has potential to revolutionize prenatal diagnosis; however, it also raises some crucial issues for practitioners. Now that the test is clinically available, no studies have looked at the physicians that will be ordering the testing or referring patients to practitioners who do. This study aimed to evaluate the attitudes of OB/GYN’s and how they are incorporating the test into clinical practice.

Our study shows that most physicians are offering this new, non-invasive technology to their patients, and that their practices were congruent with the literature and available professional society opinions. Those physicians who do not offer NIPT to their patients would like more literature on the topic as well as instructive guidelines from their professional societies. Additionally, this study shows that the practices and attitudes of MFMs and OBs differ. Our population feels that the incorporation of NIPT will change their practices by lowering the amount of invasive procedures, possibly replacing maternal serum screening, and that it will simplify prenatal diagnosis. However, those physicians who do not offer NIPT to their patients are not quite sure how the test will affect their clinical practice.

From this study we are able to glean how physicians are incorporating this new technology into their practice and how they feel about the addition to their repertoire of tests. This knowledge gives insight as to how to best move forward with the quickly changing field of prenatal diagnosis.


NIPT, prenatal screening, attitudes, utilization, obstetrics, prenatal diagnosis



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