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