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

References

1. 1. Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux P. Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 2002;10(8):462-466.
2. 2. Cirigliano V, Voglino G, Cañadas MP, Marongiu A, Ejarque M, Ordoñez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004;10(11):839-846.
3. 3. Nicolini U, Lalatta F, Natacci F, Curcio C, Bui TH. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 2004;10(6):541- 548.
4. 4. Cirigliano V, Voglino G, Ordoñez E, Marongiu A, Paz Cañadas M, Ejarque M, Rueda L, Lloveras E, Fuster C, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat Diagn 2009;29(1):40-49.
5. 5. Onay H, Ugurlu T, Aykut A, Pehlivan S, Inal M, Tinar S, Ozkinay C, Ozkinay F. Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction. Gynecol Obstet Invest 2008;66(2):104-110.
6. 6. Rahil H, Solassol J, Philippe C, Lefort G, Jonveaux P. Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 2002;10(8):462-466.
7. 7. Çitli Ş, Köksal B, Küçük Kurtulgan H, Akkuş N, Özdemir Ö, Sezgin İ. Prenatal dönemde multiplex kantitatif fluoresan PCR (QF-PCR) tekniği ile yaygın kromozomal anoploidilerin tespiti: Cumhuriyet Üniversitesi Tıp Fakültesi deneyimi Cumhuriyet Tıp Dergisi 2011;33:389-395.
8. 8. Pertl B, Kopp S, Kroisel PM, Häusler M, Sherlock J, Winter R, Adinolfi M. Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex. Am J Obstet Gynecol 1997;177(4):899-906.

9. 9. Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M. Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod 1999;5(12):1176-1179.
10. 10. Aydoğmuş S, Keskin HL, Baykal Gökçe S, Avşar AF, Çelen E. Prenatal anöploidi saptanmasında kantitatif floresan-polimeraz zincir resksiyonu(QF-PCR) yönteminin etkinliği. Turk J Med Sci 2009;39(5):741-716.
11. 11. Caine A, Maltby AE, Parkin CA, Waters JJ, Crolla JA; UK Association of Clinical Cytogeneticists (ACC).Prenatal detection of Down’s syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet. 2005 Jul 9-15;366(9480):123- 128.
12. 12. Leung WC, Lau ET, Lau WL, Tang R, Wong SF, Lau TK, Tse KT, Wong SF, To WK, Ng LK, Lao TT, Tang MH; Working Group on Prenatal Diagnosis and Counselling, Hospital Authority. Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide? Hong Kong Med J 2008;14(1):6-13.