How genomics is changing the practice of prenatal testing

J Perinat Med. 2021 Jul 1;49(8):1003-1010. doi: 10.1515/jpm-2021-0220. Print 2021 Oct 26.


New genomic laboratory technology namely microarrays and high throughput sequencing (HTS) as well as a steady progress in sonographic image capture and processing have changed the practice of prenatal diagnosis during the last decade fundamentally. Pregnancies at high risk for common trisomies are reliably identified by non-invasive prenatal testing (NIPT) and expert sonography has greatly improved the assessment of the fetal phenotype. Preconceptional comprehensive carrier screening using HTS is available for all parents, if they should wish to do so. A definite fetal diagnosis, however, will still require invasive testing for most conditions. Chromosomal microarrays (CMA) have greatly enhanced the resolution in the detection of chromosome anomalies and other causal copy number variations (CNV). Gene panel or whole exome sequencing (WES) is becoming the routine follow up of many anomalies detected by ultrasound after CNVs have been excluded. The benefits and limitations of the various screening as well as diagnostic options are perceived as complex by many who find it challenging to cope with the need for immediate choices. The communication of facts to ensure an informed decision making is obviously a growing challenge with the advent of the new genomic testing options. This contribution provides an overview of the current practice and policies in Switzerland.

Keywords: NIPS; NIPT; genomics; prenatal diagnosis; prenatal screening.

MeSH terms

  • Female
  • Genetic Carrier Screening
  • Genomics / methods
  • Genomics / trends*
  • Humans
  • Noninvasive Prenatal Testing / methods
  • Noninvasive Prenatal Testing / trends*
  • Pregnancy
  • Switzerland
  • Ultrasonography, Prenatal