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Case Reports in Genetics
Volume 2014, Article ID 823504, 3 pages
Case Report

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

Department of Human Genetics, Emory University, Atlanta, GA 30033, USA

Received 31 October 2013; Accepted 25 December 2013; Published 4 February 2014

Academic Editors: E. Mornet and G. Velagaleti

Copyright © 2014 Meagan Smith et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.