Related Experiment Video
Updated: Jul 24, 2025

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis
Amy Turriff1, Skye A Miner2,3, Christina M Annunziata4
1Prenatal Genomics & Therapy Section, Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland, USA.
Objective:
To explore patient perspectives after receiving non-invasive prenatal testing (NIPT) results that suggest maternal cancer.
Methods:
Individuals who received non-reportable or discordant NIPT results during pregnancy and enrolled in a study were interviewed prior to and after receiving the outcome of their clinical evaluation for cancer. Interviews were independently coded by two researchers and analyzed thematically.
Results:
Forty-nine participants were included. Three themes were identified: 1) limited pre-test awareness of maternal incidental findings caused considerable confusion for participants, whose initial concerns focused on their babies; 2) providers' communication influenced how participants perceived their risk of cancer and the need to be evaluated; and 3) participants perceived value in receiving maternal incidental findings from NIPT despite any stress it caused during their pregnancy.
Conclusion:
Participants viewed the ability to detect occult malignancy as an added benefit of NIPT and felt strongly that these results should be disclosed. Obstetric providers need to be aware of maternal incidental findings from NIPT, inform pregnant people of the potential to receive these results during pre-test counseling, and provide accurate and objective information during post-test counseling.
Clinical Trial Registration:
Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis (IDENTIFY), a Natural History Study, NCT4049604.
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