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., ...Daha Fazla

TURKISH JOURNAL OF OBSTETRICS AND GYNECOLOGY, cilt.8, sa.1, ss.67-70, 2011 (ESCI) identifier

  • 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.