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

  • Benachi, Alexandra1
  • Caffrey, Jessica2
  • Calda, Pavel3
  • Carreras, Elena4
  • Jani, Jacques C5
  • Kilby, Mark D6
  • Klein, Hanns-Georg7
  • Rizzo, Giuseppe8
  • Yaron, Yuval9
  • 1 Service de Gynécologie-Obstétrique. AP-HP, Hôpital Antoine Béclère, Université Paris-Sud, Clamart, France. , (France)
  • 2 The Link Group, Australia. , (Australia)
  • 3 Fetal Medicine Center. First Medical Faculty, Charles University and General Teaching Hospital, Prague, Czech Republic. , (Czechia)
  • 4 Department of Obstetrics, Hospital Universitari, Vall d'Hebron, Barcelona, Catalonia, Spain. , (Spain)
  • 5 Department of Obstetrics and Gynecology, University Hospital Brugmann, Université Libre de Bruxelles, Brussels, Belgium. , (Belgium)
  • 6 Centre for Women's & Newborn Health, Institute of Metabolism & Systems Research, University of Birmingham and Fetal Medicine Centre, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.
  • 7 Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost & Colleagues, Martinsried, Germany. , (Germany)
  • 8 Università di Roma Tor Vergata, Department of Maternal ad Fetal Medicine, Ospedale Cristo Re, Rome, Italy; The First I.M. Sechenov Moscow State Medical University, Department of Obstetrics and Gynecology, Moscow, Russia. , (Italy)
  • 9 Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Medical Center, Tel Aviv, Israel. Electronic address: [email protected] , (Israel)
Published Article
European journal of medical genetics
Publication Date
Jan 01, 2020
DOI: 10.1016/j.ejmg.2019.01.006
PMID: 30654154


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. Copyright © 2019 Elsevier Masson SAS. All rights reserved.

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