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Author Notes:
Correspondence should be addressed to Jeannie Visootsak; jvisoot@emory.edu
The authors declare that there is no conflict of interests regarding the publication of this paper.
Subjects:
Research Funding:
Jeannie Visootsak wants to acknowledged the support by NIH/NICHD via Grant no. 1K23HD058043-01A1.
A Case of False Negative NIPT for Down Syndrome-Lessons Learned
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.
Copyright information:
© 2014 Meagan Smith et al.
This is an Open Access work distributed under the terms of the Creative Commons Attribution 3.0 Unported License (http://creativecommons.org/licenses/by/3.0/).
