Cell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context

Hum Reprod. 2012 Nov;27(11):3123-31. doi: 10.1093/humrep/des286. Epub 2012 Aug 3.

Abstract

The recent release of new, non-invasive prenatal tests for fetal aneuploidy using cell-free fetal DNA (cffDNA) has been hailed as a revolution in prenatal testing and has triggered significant commercial interest in the field. Ongoing research portends the arrival of a wide range of cffDNA tests. However, it is not yet clear how these tests will be integrated into well-established prenatal testing strategies in the USA, as the timing of such testing and the degree to which new non-invasive tests will supplement or replace existing screening and diagnostic tools remain uncertain. We argue that there is an urgent need for policy-makers, regulators and professional societies to provide guidance on the most efficient and ethical manner for such tests to be introduced into clinical practice in the USA.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aneuploidy*
  • Cell-Free System
  • Chromosome Aberrations / embryology*
  • DNA / genetics*
  • DNA / isolation & purification
  • Decision Trees
  • Female
  • Genetic Testing* / trends
  • Humans
  • Practice Guidelines as Topic
  • Pregnancy
  • Prenatal Diagnosis / adverse effects
  • Prenatal Diagnosis / methods*
  • United States

Substances

  • DNA