Cell-free DNA testing: Is it reliable? A case report
Clinical and Experimental Obstetrics and Gynecology, vol.45, no.6, pp.939-941, 2018 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 45 Issue: 6
- Publication Date: 2018
- Doi Number: 10.12891/ceog4051.2018
- Journal Name: Clinical and Experimental Obstetrics and Gynecology
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.939-941
- Keywords: False negative cell-free DNA testing, Fetal aneuploidy, Prenatal diagnosis, Trisomy 21
- Trakya University Affiliated: Yes
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.