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Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 47 Issue 1 (2020). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.
Case Report
Cell-free DNA testing: is it reliable? A case report
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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
Clin. Exp. Obstet. Gynecol. 2018, 45(6), 939–941;
https://doi.org/10.12891/ceog4051.2018
Published: 10 December 2018
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.
Keywords
False negative cell-free DNA testing
Fetal aneuploidy
Prenatal diagnosis
Trisomy 21