A FALSE NEGATIVE QF-PCR AND TRISOMY 18-TRISOMY 9 MOSAICISM


Dikensoy E., Balat O., PEHLİVAN S., Cebesoy F. B., Kutlar A. I., Sever T., ...More

TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY, vol.8, no.1, pp.67-70, 2011 (ESCI, TRDizin)

  • Publication Type: Article / Article
  • Volume: 8 Issue: 1
  • Publication Date: 2011
  • Doi Number: 10.5505/tjod.2011.30306
  • Journal Name: TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.67-70
  • Keywords: mosaic trisomies, prenatal diagnosis, QF-PCR method
  • Istanbul University Affiliated: Yes

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.