Cell-free DNA testing: is it reliable? A case report

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Atıf İçin Kopyala

Erzincan S. G., Saying N. C., Inan C., Yuce M. A., Varol F. G., Basaran S.

CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, cilt.45, sa.6, ss.939-941, 2018 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 45 Sayı: 6
• Basım Tarihi: 2018
• Doi Numarası: 10.12891/ceog4051.2018
• Dergi Adı: CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.939-941
• İstanbul Üniversitesi Adresli: Evet

Özet

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.