Current controversies in prenatal diagnosis 1: should noninvasive DNA testing be the standard screening test for Down syndrome in all pregnant women?


  • Presented at the 17th International Conference on Prenatal Diagnosis and Therapy, Lisbon, Portugal, on 3 June 2013.

  • All authors contributed equally to this work.

  • Funding sources: None

  • Conflicts of interest: Alessandro Ghidini has no conflict of interest, Dick Oepkes has participated in several studies sponsored by Ariosa Diagnostics, and Diana W. Bianchi is the Chair of the Clinical Advisory Board of Verinata Health, Inc. (an Illumina company), for which she receives an honorarium.


What's already known about this topic?

  • Noninvasive DNA testing (NIDT) is recommended in many developed countries as an option for pregnant women who have already been determined to be at high risk for fetal aneuploidy.
  • Over 2 years of clinical experience has been accumulated with offering NIDT as an advanced screen for fetal autosomal aneuploidy.
  • At the present time, most testing is being performed by commercial organizations.

What does this study add?

  • This study provides a written transcript to accompany an oral debate that was presented at the 17th International Conference on Prenatal Diagnosis and Therapy in Lisbon, Portugal, on 3 June 2013.
  • The debaters, who are both experts in maternal–fetal medicine, consider the benefits and limitations of offering NIDT to all pregnant women regardless of their a priori risk of having a fetus with a chromosome abnormality.