Antenatal Noninvasive DNA Testing: Clinical Experience and Impact

Millie A. Ferres; Lisa Hui; Diana W. Bianchi

doi:10.1055/s-0034-1371706

American Journal of Perinatology, Inhaltsverzeichnis

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

¹Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts

²Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts

³Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts

,

Lisa Hui

⁴Mercy Hospital for Women, Heidelberg, Victoria, Australia

⁵Department of Obstetrics and Gynaecology, University of Melbourne, Melbourne, Victoria, Australia

,

Diana W. Bianchi

¹Mother Infant Research Institute, Tufts Medical Center and Floating Hospital for Children, Tufts University School of Medicine, Boston, Massachusetts

²Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts

³Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, Massachusetts

› Institutsangaben

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.

Keywords

cell-free fetal DNA - prenatal screening - noninvasive prenatal testing - NIPD - NIDT - pregnancy

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