Noninvasive Prenatal Testing Using Circulating DNA and RNA: Advances, Challenges, and Possibilities

Annu Rev Biomed Data Sci. 2023 Aug 10:6:397-418. doi: 10.1146/annurev-biodatasci-020722-094144. Epub 2023 May 17.

Abstract

Prenatal screening using sequencing of circulating cell-free DNA has transformed obstetric care over the past decade and significantly reduced the number of invasive diagnostic procedures like amniocentesis for genetic disorders. Nonetheless, emergency care remains the only option for complications like preeclampsia and preterm birth, two of the most prevalent obstetrical syndromes. Advances in noninvasive prenatal testing expand the scope of precision medicine in obstetric care. In this review, we discuss advances, challenges, and possibilities toward the goal of providing proactive, personalized prenatal care. The highlighted advances focus mainly on cell-free nucleic acids; however, we also review research that uses signals from metabolomics, proteomics, intact cells, and the microbiome. We discuss ethical challenges in providing care. Finally, we look to future possibilities, including redefining disease taxonomy and moving from biomarker correlation to biological causation.

Keywords: NIPT; cfDNA; cfRNA; genomics; liquid biopsy; noninvasive prenatal testing; prenatal care.

Publication types

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

MeSH terms

  • Aneuploidy
  • Cell-Free Nucleic Acids* / genetics
  • Female
  • Genetic Testing / methods
  • Humans
  • Infant, Newborn
  • Noninvasive Prenatal Testing*
  • Pregnancy
  • Premature Birth* / genetics
  • RNA

Substances

  • Cell-Free Nucleic Acids
  • RNA