Date of Award

5-2015

Document Type

Thesis - Open Access

Degree Name

MS Human Genetics

Department

Human Genetics Graduate Program

Abstract

Since its introduction less than four years ago, noninvasive prenatal screening (NIPS) has been widely adopted as a screening tool for women at a high-risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening routines. We surveyed 208 practicing genetic counselors to assess the current use of NIPS. Genetic counselors were queried as to the advantages/disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. Most offer NIPS with another form of screening, predominantly either first trimester ultrasound, NT, and an MSAFP (45.1%, n=78), or first trimester serum screening, with or without an NT, and an MSAFP (19.7%, n=34). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3%, n=105; pro: 44.7%, n=85). The lack of consensus among respondents suggests that practice guidelines might benefit counselors at this time. In addition, the respondents emphasize the significance of better educating providers about the risks, benefits, and limitations of the test.

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