Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers

Alexandra Benachi, Jessica Caffrey, Pavel Calda, Elena Carreras, Jacques C. Jani, Mark D. Kilby, Hanns Georg Klein, Giuseppe Rizzo, Yuval Yaron*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Cell-free DNA-based noninvasive prenatal testing (cfDNA) is a relatively new screening tool that analyzes cfDNA circulating in maternal plasma to screen for aneuploidies. Since its introduction, cfDNA has been rapidly adopted by health care providers (HCPs). This rapid adoption, as well as progressive developments in the technology, requires professional societies to continuously update their guidelines to indicate the broadening scope both in terms of test indications and patient populations for whom it has become the appropriate primary test. CfDNA testing, initially applied to high-risk patients, is now largely considered an option for all patients. For HCPs, the rapid introduction of cfDNA into clinical practice has come with the requirement to stay up-to-date and accurately informed. We performed a survey to understand the current practices and views of European HCPs on the use of cfDNA. European HCPs were surveyed on several topics such as familiarity with cfDNA-based noninvasive prenatal testing (NIPT), current usage, patient counseling, test menu expansion, and future perspectives. The results of this survey demonstrate increasing usage and awareness of cfDNA-based NIPT in five European countries (UK, France, Germany, Spain and Italy). Major barriers to implementation include cost and a lack of physician education on NIPT.

Original languageEnglish
Article number103616
JournalEuropean Journal of Medical Genetics
Issue number1
StatePublished - Jan 2020
Externally publishedYes


FundersFunder number
Health Innovation Challenge FundHICF-R7-396
Prenatal Assessment of Genomes & Exome Study
Utah Department of Health
Wellcome Trust
Ministerstvo Zdravotnictví Ceské RepublikyRVO-VFN64165
Department of Health, Australian Government


    • Cell-free DNA
    • Europe
    • Health care provider
    • Noninvasive prenatal testing
    • Survey


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