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Updated: Jul 11, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Does labeling prenatal screening test results as negative or positive affect a woman's responses?
Brian J Zikmund-Fisher1, Angela Fagerlin, Kristie Keeton
1Center for Practice Management & Outcomes Research, Health Services Research & Development Service, VA Ann Arbor Healthcare System, Ann Arbor, MI, USA. bzikmund@umich.edu
Interpretive labels on prenatal genetic screening results significantly impact women's perceived risk and desire for amniocentesis. These labels, more than numbers alone, influence decisions in genetic testing.
Area of Science:
- Medical Genetics
- Psychology
- Health Communication
Background:
- Prenatal genetic screening provides risk information for fetal chromosomal abnormalities.
- Interpreting complex genetic risk data can be challenging for expectant parents.
Purpose of the Study:
- To evaluate the impact of interpretive labels on prenatal genetic screening results.
- To assess changes in perceived risk and amniocentesis preferences.
Main Methods:
- 1688 women participated in an online hypothetical pregnancy scenario.
- Participants were randomized to high or low initial risk groups.
- Prenatal screening results were presented with or without interpretive labels.
Main Results:
- Interpretive labels significantly increased perceived risk and worry when results were "positive" or "abnormal".
- Interest in amniocentesis rose from 37% to 57% with labeled "positive" results.
- Unlabeled results led to similar risk perception across all participants.
Conclusions:
- Interpretive labels amplify the effect of numeric results on risk perception and behavioral intentions.
- Labels create decision momentum, influencing choices more than raw data.
- Findings highlight the importance of clear patient-provider communication in genetic counseling.
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