Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Claire Singletary, MS, CGC

Committee Member

Blair Stevens, MS, CGC

Committee Member

Salma Nassef, MS, CGC

Committee Member

Hector Mendez-Figueroa, MD

Committee Member

S. Shahrukh Hashmi, MD, MPH, PhD


Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients may underestimate the limitations of prenatal screening. Therefore, we conducted a prospective cross-sectional study of ninety-four women from genetic counseling clinics in Houston, Texas to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT. The majority of participants (66%) understood the residual risk for Down syndrome following negative NIPT; however, 34% of participants indicated that negative NIPT completely eliminated the risk. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 (p=0.012) and sex chromosome abnormality (p=0.039), and were more likely to understand which conditions NIPT tests for (p=0.021), compared to women with less formal education. These data demonstrate that despite the recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding.


noninvasive prenatal testing, patient understanding, prenatal screening, NIPT