Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update

Curr Opin Obstet Gynecol. 2016 Apr;28(2):119-24. doi: 10.1097/GCO.0000000000000254.


Purpose of review: Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties.

Recent findings: NIPT is an advanced screening test for trisomies 21, 18, and 13 that was initially limited to women at high risk for an affected pregnancy. It is now recognized as suitable for all women. The testing has been expanded to include sex chromosome abnormalities and some microdeletion syndromes. Some ethicists are concerned about inclusion of disorders that have less severe phenotypes.

Summary: Clinical providers have experienced difficulty in maintaining an up-to-date knowledge about the scope of NIPT, differences between tests, who should be offered the testing, performance of tests, reasons for false-positive results, and optimal patient management following positive results. Some of the practical difficulties associated with the introduction can be attributed to this knowledge gap. There remain some important ethical issues associated with NIPT. We believe that the same ethical and legal principles that were considered in the justification of conventional prenatal screening can be used to assess the appropriateness of additional NIPT applications.

Publication types

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

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis*
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Down Syndrome / diagnosis
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genetic Testing / ethics
  • Humans
  • Pregnancy
  • Prenatal Diagnosis / ethics*
  • Trisomy / diagnosis
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome