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Clinical and Experimental Obstetrics & Gynecology  2018, Vol. 45 Issue (6): 939-941    DOI: 10.12891/ceog4051.2018
Case Report Previous articles | Next articles
Cell-free DNA testing: is it reliable? A case report
S. G. Erzincan1, *(), N. C. Sayin1, C. Inan1, M. A. Yuce2, F. G. Varol1, S. Basaran3
1 Trakya University, Faculty of Medicine, Department of Obstetrics & Gynecology, Edirne, Turkey
2 Ekol Hospital, Department of Obstetrics & Gynecology, Edirne, Turkey
3 Istanbul University, Faculty of Medicine, Department of Medical Genetics , Istanbul, Turkey
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Abstract  
In this article, the authors reported the findings of a false negative case of cell-free DNA (cfDNA) testing for trisomy 21. The cfDNA test was performed due to the increased nuchal translucency during the first trimester scan. After receiving the “normal” result of the test, the patient was followed up. However, intrauterine growth retardation and ventriculomegaly were detected in the second trimester of pregnancy and fetal karyotyping revealed trisomy 21.
Key words:  False negative cell-free DNA testing      Fetal aneuploidy      Prenatal diagnosis      Trisomy 21     
Published:  10 December 2018     
*Corresponding Author(s):  S. GURSOY ERZINCAN     E-mail:  elengursoy@hotmail.com

Cite this article: 

S. G. Erzincan, N. C. Sayin, C. Inan, M. A. Yuce, F. G. Varol, S. Basaran. Cell-free DNA testing: is it reliable? A case report. Clinical and Experimental Obstetrics & Gynecology, 2018, 45(6): 939-941.

URL: 

https://ceog.imrpress.com/EN/10.12891/ceog4051.2018     OR     https://ceog.imrpress.com/EN/Y2018/V45/I6/939

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