Date of Award

5-2021

Document Type

Thesis - Open Access

Degree Name

MS in Human Genetics

First Advisor

Lindsey Alico Ecker

Abstract

The global state of prenatal screening during the first trimester of pregnancy by genetics professionals has not yet been extensively studied. The current study explored whether carrier screening, biochemical marker screening, ultrasounds with nuchal translucency measurements, and non-invasive prenatal screening (NIPS) were offered as standard of care. It also examined whether the presence of established practice guidelines impacted their decision to offer testing as standard of care and screening reimbursement methods. Prenatal genetics providers, primarily genetic counselors, from 11 countries spanning 4 continents, were surveyed about the screening tests offered to the patients. Of the first trimester screening tests, NIPS was not found to be standard of care globally with the exception of the United States. Government reimbursement was reported by providers to be a major form of reimbursement for all four types of screening tests. Patient out-of-pocket was reported to be an equally popular form of reimbursement for NIPS and respondents expressed reimbursement challenges as potential barriers for offering NIPS as standard of care. Governments were more likely to reimburse well-established tests despite the greater accuracy of NIPS. These findings lay the groundwork for a deeper exploration of the continually evolving prenatal genetic counseling field on a global scale.

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