Non-invasive prenatal testing for Down syndrome

Philip Twiss; Melissa Hill; Rebecca Daley; Lyn S Chitty

doi:10.1016/j.siny.2013.10.003

Non-invasive prenatal testing for Down syndrome

Semin Fetal Neonatal Med. 2014 Feb;19(1):9-14. doi: 10.1016/j.siny.2013.10.003. Epub 2013 Nov 7.

Authors

Philip Twiss¹, Melissa Hill¹, Rebecca Daley¹, Lyn S Chitty²

Affiliations

¹ NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.
² NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK; UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Electronic address: l.chitty@ucl.ac.uk.

PMID: 24210903
DOI: 10.1016/j.siny.2013.10.003

Abstract

Prenatal screening and diagnosis of Down syndrome and other major aneuploidies may be transformed following the identification of cell-free fetal DNA in maternal plasma at the end of the last millennium. Next generation sequencing has enabled the development of tests that accurately predict the presence of fetal trisomies by analysis of cell-free DNA in maternal blood from as early as 10 weeks of gestation. These tests are now widely available in the commercial sector but are yet to be implemented in publicly led health services. In this article we discuss the technical, social, and ethical challenges that these new tests bring.

Keywords: Cell-free fetal DNA; Down syndrome; Fetal aneuploidy; Non-invasive prenatal testing; Prenatal diagnosis.

Publication types

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

MeSH terms

DNA / blood
DNA / genetics
Down Syndrome / diagnosis*
Down Syndrome / genetics
Female
Fetus
High-Throughput Nucleotide Sequencing / methods
Humans
Pregnancy
Prenatal Diagnosis / methods*

Substances

DNA

Grants and funding

RP-PG-0707-10107/DH_/Department of Health/United Kingdom