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

Erzincan S., SAYIN N. C., İNAN C., Yuce M., Varol F., Basaran S.

Clinical and Experimental Obstetrics and Gynecology, cilt.45, sa.6, ss.939-941, 2018 (SCI-Expanded, Scopus) identifier identifier

  • 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 and Gynecology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.939-941
  • Anahtar Kelimeler: False negative cell-free DNA testing, Fetal aneuploidy, Prenatal diagnosis, Trisomy 21
  • Trakya 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.