Case Report

A False Negative QF-PCR and Trisomy 18-Trisomy 9 Mosaicism: A case Report


  • Ebru Dikensoy
  • Özcan Balat
  • Sacide Pehlivan
  • Fatma Bahar Cebesoy
  • Ali İrfan Kutlar
  • Tuğçe Sever
  • Volkan Baltacı

Turk J Obstet Gynecol 2011;8(1):67-70

Using QF-PCR for rapid prenatal diagnosis of major chromosome aneuploidies demonstrated that the method is highly efficient, reliable and cost effective in the literature. A discrepancy has been showed between QF-PCR and karyotyping results as 0.2% in mosaicism.Our case was in 17 th gestational weeks who referred to our clinic for having a Trisomy 18 risk as 1 in 50 in triple test.On the ultrasonography, we detected bilateral choroid plexus cysts and bilateral pyelectasia.After amniocentesis QF-PCR has been showed a normal kromosomal patern and cytogenetic analysis has been showed trisomy 18 and trisomy 9 mosaicism.

Keywords: QF-PCR method, mosaic trisomies, Prenatal Diagnosis