A False Negative QF-PCR and Trisomy 18-Trisomy 9 Mosaicism: A case Report
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Case Report
P: 67-70
March 2011

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

Turk J Obstet Gynecol 2011;8(1):67-70
1. Department Of Ob&Gyn, Gaziantep University, Gaziantep, Turkey
2. Department Of Medical Biology And Genetics, Gaziantep University, Gaziantep, Turkey
3. Gen-Art Women Health And Reproduktive Biotechnology Centre,Ankara
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ABSTRACT

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.