A FALSE NEGATIVE QF-PCR AND TRISOMY 18-TRISOMY 9 MOSAICISM
TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY, cilt.8, sa.1, ss.67-70, 2011 (ESCI, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 8 Sayı: 1
- Basım Tarihi: 2011
- Doi Numarası: 10.5505/tjod.2011.30306
- Dergi Adı: TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.67-70
- Anahtar Kelimeler: mosaic trisomies, prenatal diagnosis, QF-PCR method
- İstanbul Üniversitesi Adresli: Evet
Özet
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.