False negative QF-PCR and trisomy 18-trisomy 9 mosaicism Yanliş negati̇f QF-PCR ve tri̇zomi̇ 18-tri̇zomi̇ 9 mozai̇zma


Dikensoy E., Balat Ö., Pehlivan S. , Cebesoy F. B. , Kutlar A. I. , Sever T., ...More

Turk Jinekoloji ve Obstetrik Dernegi Dergisi, vol.8, no.1, pp.67-70, 2011 (Refereed Journals of Other Institutions) identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 1
  • Publication Date: 2011
  • Title of Journal : Turk Jinekoloji ve Obstetrik Dernegi Dergisi
  • Page Numbers: pp.67-70
  • Keywords: Mosaic trisomies, Prenatal diagnosis, QF-PCR method

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 week 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 chromosomal patern and cytogenetic analysis has been showed trisomy 18 and trisomy 9 mosaicism.