Cell free (cf)DNA-based Prenatal Screening: Lessons Learned and Future Strategies


CME and CMLE credits are not available for this program.

This webinar is a recorded presentation of a live broadcast and includes a pre-test, the presentation, handout, and a post-test. 

This interactive webinar is part 4 of the 8 part Utility of Cell-Free DNA in the Clinic Series.

The identification of cell-free fetal/placental DNA in maternal circulation was reported in 1997. However, methods to allow for prenatal identification of common trisomies were not reported until 11 years later in 2008, when sequencing methodologies became sufficiently developed.  The first clinical use of cfDNA screening in pregnancies was  introduced three years later in 2011 and was offered by multiple commercial companies the following year, usually for high risk pregnancies. In recent years, professional organizations around the world recommended using a cfDNA screen as part of routine care, as several countries provide such screening as part of national prenatal care programs. This presentation will take you through this timeline and provide up-to-date information on how cfDNA testing is continuing to develop. In addition, it will address specific concerns about this type of screening and its impact on areas such as prenatal diagnostic testing, fetal sex determination and whether fetal fraction measurements should be reported to clinicians and patients.

Learning Objectives:
  • Recognize screening test characteristics such as detection rate, false positive rate and test failure rate.
  • Discuss the impact of the prevalence on the predictive values.
  • Describe several ways cfDNA-based prenatal screening can be implemented as a population-based protocol.
  • Identify potential issues related to increasing the disorders included in prenatal cfDNA screening panels.

Glenn Palomaki, PhD
Alpert Medical School at Brown University
Rena Xian, MD
The Johns Hopkins School of Medicine

Recording Date: January 6, 2022
Duration: 1 hr
Level of Instruction: Basic

Continuing Education Credit Information

CME and CMLE credits are not available for this  program.

Supported by an educational grant from AstraZeneca and by educational funding provided by Amgen.  



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