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

Autor: Volkan Baltaci, Ebru Dikensoy, Tugce Sever, Ali Irfan Kutlar, Fatma Bahar Cebesoy, Sacide Pehlivan, Ozcan Balat
Rok vydání: 2011
Předmět:
Zdroj: Turkish Journal of Obstetrics and Gynecology, Vol 8, Iss 1, Pp 67-70 (2011)
ISSN: 1307-699X
DOI: 10.5505/tjod.2011.30306
Popis: 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.
Databáze: OpenAIRE