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Factors affecting couples' decision making about expanded prenatal cell-free DNA screening
Kelsey Mumford1, Saskia Hendriks1, Skye Miner2
1National Institutes of Health Department of Bioethics, Bethesda, MD.
Genetics in Medicine Open
|December 5, 2024
Summary
Intended parents prioritize prenatal cell-free DNA screening for severe, treatable, and early-onset conditions. Most couples desire clear recommendations from clinicians regarding genetic testing options.
Area of Science:
- Reproductive Medicine
- Genetics
- Maternal-Fetal Medicine
Background:
- Expanded prenatal screening using cell-free DNA (cfDNA) offers insights into fetal health.
- Understanding intended parents' preferences is crucial for effective implementation of genetic testing.
Purpose of the Study:
- To evaluate intended parents' preferences regarding expanded prenatal cfDNA screening.
- To identify factors influencing decisions about prenatal genetic testing.
Main Methods:
- A survey was conducted with 494 couples who were pregnant or trying to conceive.
- Participants independently assessed willingness to undergo cfDNA screening based on disease severity, treatability, onset age, and predictability.
- Decision-making processes and influencing factors were explored.
Main Results:
- Testing was most desired for conditions that are completely predictive, have earlier onset, are treatable, and are of highest severity.
- Availability of termination did not decrease interest; 45% found it increased likelihood of testing.
- Moderate concordance existed between partners, with most desiring firm screening recommendations.
Conclusions:
- Couples are information-seeking regarding prenatal testing options.
- Clinicians play a key role, as most intended parents prefer definitive screening recommendations.
