Am J Perinatol 2014; 31(07): 577-582
DOI: 10.1055/s-0034-1371706
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Antenatal Noninvasive DNA Testing: Clinical Experience and Impact

Millie A. Ferres
1  Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts
2  Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts
3  Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts
,
Lisa Hui
4  Mercy Hospital for Women, Heidelberg, Victoria, Australia
5  Department of Obstetrics and Gynaecology, University of Melbourne, Melbourne, Victoria, Australia
,
Diana W. Bianchi
1  Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts
2  Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts
3  Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts
› Author Affiliations
Further Information

Publication History

22 November 2013

23 January 2014

Publication Date:
28 March 2014 (eFirst)

Abstract

Background Nearly two decades ago, the discovery of circulating cell-free fetal DNA in maternal blood created a paradigm shift in prenatal testing. Recent advances in DNA sequencing technology have facilitated the rapid translation of DNA-based testing into clinical antenatal care.

Content In this review, we summarize the technical approaches and current clinical applications of noninvasive testing using cell-free DNA in maternal plasma. We discuss the impact of these tests on clinical care, outline proposed integration models, and suggest future directions for the field.

Summary The use of cell-free DNA in maternal blood for the detection of fetal rhesus D antigen status, fetal sex, and common whole chromosomal aneuploidies is now well established, although testing for aneuploidy is still considered screening and not diagnostic. Further advances in technology and bioinformatics may see future clinical applications extend to the noninvasive detection of fetal subchromosomal aneuploidy, single gene disorders, and the entire fetal genome.

Note

Dr. Bianchi is the chair of the Clinical Advisory Board of Verinata Health, an Illumina company, for which she receives an honorarium. She also receives sponsored research funding from Verinata Health; this is administered through Tufts Medical Center.