Pandora's pregnancy: NIPT, CMA, and genome sequencing-A new era for prenatal genetic testing

Prenat Diagn. 2019 Sep;39(10):859-865. doi: 10.1002/pd.5495. Epub 2019 Jun 25.

Abstract

Objectives: We delineate in this article a shift from the "traditional" technologies of karyotyping in PND to the current phase of advanced genetic technologies including noninvasive prenatal testing (NIPT), chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) with their higher detection rate and related abundance of uncertain data.

Methods: Conceptual analysis based on seminal works that shaped the socioethical discourse surrounding the experiences of parents as well as professionals with prenatal diagnosis in the last 30 years.

Results: We consider the implications of this new era of PND for patients and health professionals by drawing on previous studies documenting how probability and uncertainty affect informed consent/choice, health risks communication, customer satisfaction and decision making, and parent-child bonding.

Conclusions: We argue that these changes move us beyond the idioms and realities of the tentative pregnancy and moral pioneering, to uncertainty, probability-based counseling, and moral/translational gambling. We conclude by discussing what is needed to maintain hope in the era of Pandora's pregnancy.

Publication types

  • Historical Article

MeSH terms

  • Adult
  • Decision Making
  • Exome Sequencing / ethics
  • Exome Sequencing / methods
  • Exome Sequencing / trends
  • Female
  • Genetic Counseling
  • Genetic Testing* / ethics
  • Genetic Testing* / methods
  • Genetic Testing* / trends
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Informed Consent
  • Karyotyping / ethics
  • Karyotyping / methods
  • Karyotyping / trends
  • Metaphor*
  • Microarray Analysis / ethics
  • Microarray Analysis / methods
  • Microarray Analysis / trends
  • Noninvasive Prenatal Testing / ethics
  • Noninvasive Prenatal Testing / methods
  • Noninvasive Prenatal Testing / trends
  • Parents / psychology
  • Pregnancy
  • Prenatal Diagnosis* / ethics
  • Prenatal Diagnosis* / methods
  • Prenatal Diagnosis* / trends
  • Uncertainty