A Case of False Negative NIPT for Down Syndrome-Lessons Learned

• Type of Material: Article
• Authors: Meagan Smith, Emory University; Kimberly M. Lewis, Emory University; Alexandrea Holmes, Emory University; Jeannie Visootsak, Emory University
• Language: English
• Date: 2014
• Publisher: Hindawi Publishing Corporation
• Publication Version: Final Published Version
• Copyright Statement: © 2014 Meagan Smith et al.
• License: Creative Commons Attribution 3.0 Unported
• Final Published Version (URL): http://www.hindawi.com/journals/crig/2014/823504/
• Title of Journal or Parent Work: Case Reports in Genetics
• ISSN: 2090-6544
• Volume: 2014
• Issue: 823504
• Grant/Funding Information: Jeannie Visootsak wants to acknowledged the support by NIH/NICHD via Grant no. 1K23HD058043-01A1.
• Research Categories: Health Sciences, Human Development; Biology, Genetics

Abstract

Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. With the successful introduction of noninvasive prenatal testing (NIPT) for Down syndrome into routine prenatal care, it is important to understand the risks, benefits, and limitations in order to guide patients in making an informed decision. Herein, we describe the first published case report of a patient whose fetus tested “negative” for Trisomy 21 by NIPT but was diagnosed postnatally with trisomy 21. We present the importance of proper pretest and posttest genetic counseling to ensure prenatal patients are able to make informed decisions and are educated appropriately about NIPT.