The importance of pre- and post-test counseling for prenatal cell-free DNA screening for common fetal aneuploidies

ABSTRACT

Introduction: Prenatal cell-free DNA screening for common fetal aneuploidies has rapidly changed the paradigm of prenatal care. Despite its advantages compared to conventional screening methods, its unexpectedly rapid implementation in clinical practice has generated several ethical and medical issues and misconceptions. Aggressive commercial marketing of cell-free DNA screening and media dissemination of misleading information have added confusion.

Areas covered: This review provides an extensive update and will focus on the importance of pre-and post-test counseling for prenatal cell-free DNA screening not previously discussed extensively in the available literature. Additionally, we report cell-free DNA screening implementation in the largest obstetrical tertiary unit in Finland which is one of few countries that provides all prenatal screening methods free of charge for all women and has a very high uptake of first-trimester screening. This is not a systematical review, but rather a narrative overview which includes the most relevant and recent original publications and reviews covering this issue.

Expert opinion: Despite being the most accurate method for screening of common fetal aneuploidies, the knowledge and counseling should be substantially improved. Cell-free DNA screening is not a replacement for diagnostic testing and its use in prenatal testing is complex and limited.

KEYWORDS:

• Aneuploidy
• cell free fetal DNA
• counseling
• NIPT
• prenatal diagnosis

Acknowledgments

The author would like to acknowledge all midwives from the Fetomaternal Medical Center, Department of Obstetrics and Gynecology, Helsinki University Hospital. A special thanks goes to midwife Satu Leminen for her help in data collection. The author expresses his gratitude to Maaria Puupponen, University of Helsinki for technical support in during manuscript preparation and Derek Ho, Ph.D.,medical and scientific writer (Language Services,University of Helsinki and ScriboMedica Ltd.) for English language revision. Big thanks also to An Chen, Henni Tenhunen, Paulus Torkki, and Paul Lillrank from Aalto University, Institute of Healthcare Engineering, Management and Architecture (HEMA), Finland and prof. Seppo Heinonen from the Department of Obstetrics and Gynecology, Helsinki University Hospital for the inspirational research atmosphere and conjoined efforts in a deeper understanding of women’s preferences in cffDNA screening.

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewers Disclosure

One reviewer is a member of the advisory panel for Natera, Inc. All remaining peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.

Additional information

Funding

This research was supported by the The Helsinki University Central Hospital (HUCH) governmental subsidiary (EVO) funds for clinical research.