Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development

Genet Med. 2018 Aug;20(8):791-799. doi: 10.1038/s41436-018-0087-4. Epub 2018 Jul 22.

Abstract

Prenatal genetics has evolved over the last decade to include application of new 'omics technologies to improve perinatal care. The clinical utility of these technologies when applied to direct fetal specimens from amniocentesis or chorionic villus sampling is being explored. In this review, we provide an overview of use of prenatal exome sequencing and role in evaluation of the structurally abnormal fetus, potential applications of genome sequencing, and finally, use of transcriptomics to assess placental and fetal well-being.

Keywords: Exome; Fetus; Genomics; Prenatal; Transcriptome.

Publication types

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

MeSH terms

  • Amniocentesis
  • Exome Sequencing
  • Female
  • Fetal Diseases
  • Fetus
  • Genetic Testing / trends*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Pregnancy
  • Prenatal Care
  • Prenatal Diagnosis / methods*