A Case of False Negative NIPT for Down Syndrome-Lessons Learned
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/823504 |
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| _version_ | 1832556350246223872 |
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| author | Meagan Smith Kimberly M. Lewis Alexandrea Holmes Jeannie Visootsak |
| author_facet | Meagan Smith Kimberly M. Lewis Alexandrea Holmes Jeannie Visootsak |
| author_sort | Meagan Smith |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a4f374232a134d75b978848d5557867d |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a4f374232a134d75b978848d5557867d2025-02-03T05:45:42ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/823504823504A Case of False Negative NIPT for Down Syndrome-Lessons LearnedMeagan Smith0Kimberly M. Lewis1Alexandrea Holmes2Jeannie Visootsak3Department of Human Genetics, Emory University, Atlanta, GA 30033, USADepartment of Human Genetics, Emory University, Atlanta, GA 30033, USADepartment of Human Genetics, Emory University, Atlanta, GA 30033, USADepartment of Human Genetics, Emory University, Atlanta, GA 30033, USADown 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.http://dx.doi.org/10.1155/2014/823504 |
| spellingShingle | Meagan Smith Kimberly M. Lewis Alexandrea Holmes Jeannie Visootsak A Case of False Negative NIPT for Down Syndrome-Lessons Learned Case Reports in Genetics |
| title | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
| title_full | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
| title_fullStr | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
| title_full_unstemmed | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
| title_short | A Case of False Negative NIPT for Down Syndrome-Lessons Learned |
| title_sort | case of false negative nipt for down syndrome lessons learned |
| url | http://dx.doi.org/10.1155/2014/823504 |
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