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Prenatal Tanıda Konvansiyonel Sitogenetik ve FISH Analiz Sonuçlarının Sayısal Kromozomal Anomaliler ve Endikasyonlar Açısından Değerlendirilmesi

Evaluation of the Cytogenetics and FISH Analysis Results by the Aspects of Numerical Chromosomal Aberrations and Indications in Prenatal Diagnosis

Journal Name:

  • Uludağ Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2009

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
In this study, the results of conventional cytogenetic and FISH analysis of 200 cases who were admitted for prenatal diagnosis in 2004-2008 were grouped and evaluated according to the indications as abnormal ultrasound findings, triple test risk, advanced maternal age and the others. Subgroups were designated according to the additional indications. In evaluated 200 cases, 52 cases referred for advanced maternal age, 59 cases for abnormal ultrasound findings, 44 cases for triple test risk, 11 cases for other indications. Numerical chromosomal aberration ratio was observed higher in the group with abnormal ultrasound findings than the other groups without abnormal ultrasound findings (p=0.002). In prenatal diagnosis, application of the rapid assays such as FISH is very important and necessary especially in cases who have late amniocentesis and abnormal ultrasound findings because of shortening the result giving time, taking possible termination time earlier, decreasing mother’s waiting stress, saving time for additional tests.
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Abstract (Original Language): 
Bu çalışmada, 2004-2008 yılları arasında prenatal tanı amacı ile gelen 200 hastanın konvansiyonel sitogenetik ve FISH analiz sonuçları sayısal kromozomal anomaliler yönünden endikasyonlarına göre; anormal ultrason bulgusu (AUS), üçlü tarama testi riski (ÜTT), ileri maternal yaş (İMY) ve diğerleri olarak dört ana grupta ve ek endikasyonlara göre de alt gruplarda değerlendirildi. Değerlendirilen 200 vaka içinde, 52 vaka ileri maternal yaş, 59 vaka anormal ultrason bulgusu, 44 vaka üçlü tarama test riski nedeniyle gönderilmişti. Diğer endikasyonlarla gelen vakaların sayısı ise 11 olarak tespit edildi. AUS ile gelen vakalarda sayısal kromozomal anomali oranı AUS içermeyen vakalara göre daha yüksek bulundu (p=0.002). AUS olan ve özellikle geç dönemde amniyosentez yapılan olgularda, konvansiyonel sitogenetik analize ek olarak FISH gibi hızlı sonuç alınan yöntemlerin uygulanmasının sonuç verme süresinin kısaltılabilmesi, olası terminasyonun erkene alınması, annenin bekleme stresinin azaltılması, ilave tetkik yapılacaksa zaman kazanılması gibi önemli yararlar sağlaması nedeniyle oldukça etkili ve gerekli olduğu gözlendi.
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PDF icon arastirmax-prenatal-tanida-konvansiyonel-sitogenetik-fish-analiz-sonuclarinin-sayisal-kromozomal-anomaliler-endikasyonlar-acisindan-degerlendirilmesi.pdf
  • 2
83-87
  • Turkish

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