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

Expert Rev Mol Diagn. 2019 Mar;19(3):201-215. doi: 10.1080/14737159.2019.1571912. Epub 2019 Feb 7.

Abstract

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; NIPT; cell free fetal DNA; counseling; prenatal diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aneuploidy*
  • Cell-Free Nucleic Acids / genetics
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Genetic Counseling / methods*
  • Genetic Counseling / standards
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Maternal Serum Screening Tests / methods*
  • Maternal Serum Screening Tests / standards

Substances

  • Cell-Free Nucleic Acids