Fetal Anöploidi Açısından Yüksek Riskli Gebeliklerin QF-PCR İle Analizi

Öz

Kantitatif fluoresan polimeraz zincir reaksiyon (Quantitative Fluorescent Polymerase Chain Reaction, QF-PCR) yöntemi yaygın kromozom anormalliklerine yönelik yapılan düşük maliyetli, hızlı ve otomasyon sağlayan avantajlı bir prenatal tanı yöntemidir. Hastanemizde prenatal anöploidi taramasında aktif olarak kullanılmaktadır. Çalışmamızda 2011 Haziran- 2012 Temmuz ayları arasında ileri anne yaşı, ikili, üçlü yada dörtlü taramada riskli sonuç çıkan hastalar veya ailenin anksiyetesi nedeniyle başvuran hastalardan amniyosentez yapılanların dosyaları retrospektif olarak incelendi. Değerlendirilen 98 hastanın ortalama yaşı 32.98’di. Hastaların 94’ünün (%95,9) amniyosentez sonucu normal, 3’ünün (%3,1) sonucu Trisomi 21 olarak değerlendirildi. Uninformatif sonuç 1 hastada görüldü. Kliniğimizde uygun hastalarda QF-PCR ile etkin olarak amniyosentez mayiinden 13,18, 21, X ve Y kromozomları taranmaktadır.

Anahtar Kelimeler

• Amniyosentez, fetal anomali, kantitatif floresan polimeraz zincir reaksiyonu

Analysis of Fetal Aneuploidy in High Risk Patients with QF-PCR

Abstract

Quantitative fluorescent chain reaction (QF-PCR) is a cheap, rapid and automatized prenatal diagnosis method that is used for prevalent chromosomal abnormalities. We use prenatal aneuploidy screening in an active manner in our hospital. In the study we evaluate retrospectively the amniocentesis results of women that applied to our hospital for advanced maternal age, positive resulted prenatal aneuploidy screening tests or maternal anxiety between June 2011 and July 2012. Mean age of the evaluated 98 patient was 32.98. Ninetyfour (95,9%) of them had normal results and 3 (3,1%) of them had trisomy 21. One patient had uninformative result. We use QF-PCR effectively in selected patients for evaluating amniocentesis material for chromosomes 13, 18, 21, X and Y.

Keywords

• Amniosynthesis, fetal anomaly, quantitative fleurocent polymerase chain reaction

Kaynakça

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