Author ORCID Identifier

https://orcid.org/0009-0009-7117-1695

Date of Graduation

5-2026

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Blair Stevens, MS, CGC

Committee Member

Rosemary Rogers, MS, CGC

Committee Member

Ann Wittman, MS, CGC

Committee Member

Hope Northrup, MD

Committee Member

Luana Goulet, MGC, CGC

Abstract

This retrospective chart review of spina bifida referrals from 2016 to 2025 evaluated over 300 patients in order to explore the utility of amniocentesis as a requirement for prenatal surgical repair of spina bifida. In our isolated spina bifida cohort, there were a total of 16 surgical candidates with abnormal genetic testing or normal afAFP/AchE results: eight cases with abnormal genetic results, three cases with negative AchE results, and five cases with negative afAFP results. There were no cases where genetic testing results alone precluded the patient from receiving fetal surgery. Patients with private insurance were 2.6 times more likely than patients with government insurance to be candidates for prenatal surgery (p = 0.03). Patients with government insurance were scheduled for their first appointment an average of three days (23w0d versus 23w3d) later than patients with private insurance (p = 0.0017). We assert that spina bifida surgical candidacy should be determined based on individualized decision-making. Moreover, the amniocentesis requirement should be reconsidered as it may be an unnecessary barrier to surgery disproportionately affecting patients with government health insurance.

Keywords

spina bifida, neural tube defect, fetoscopic surgery, amniocentesis

Download

Available for download on Sunday, April 30, 2028

Share

COinS