Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Several forms of prenatal screening and diagnostic testing are available that can provide information about the likelihood of a genetic or chromosomal condition in pregnancy. Each of the available technologies entail unique benefits and limitations, and patient comprehension of the differences among these tests is crucial to uphold the principle of informed consent. The primary research goal of our study was to establish what women recall of the benefits, risks, and limitations of the prenatal aneuploidy screening they were offered as a part of their prenatal care by their medical provider. A total of 349 women were surveyed and 182 met eligibility criteria having had a recent or third-trimester pregnancy. Overall knowledge scores for participants ranged from 0 to 82.9 out of 100, with an average score of 32.8 (SD = 21.9). We found significantly higher scores in women who were offered testing by genetic professionals, met with a genetic counselor in prior pregnancies, were 35-years or older, or were given the choice of both screening and diagnostic tests. Our data support the importance of a thorough informed consent when discussing prenatal aneuploidy testing with patients.