Elif YEŞİLADA, Şengül YÜKSEL, Serap SAVACI, Gonca GÜLBAY, Ebru KAYGUSUZ

İnönü Üniversitesi Tıp Fakültesi tıbbi biyoloji ve genetik anabilim dalı laboratuvarı’nda doğum öncesi tanı çalışmalarının iki yıllık değerlendirmesi

Amaç: Bu çalışmada, İnönü Üniversitesi Tıp Fakültesi Tıbbi Biyoloji ve Genetik Anabilim Dalı Laboratuvarına Ekim 2005-Ağustos 2007 tarihleri arasında yönlendirilen 328 olguya ait doğum öncesi tanı değerlendirmelerimiz sunulmaktadır. Gereç ve Yöntem: 311 amniyosentez sıvısı, 17 fetal kan örneği olmak üzere 328 olguya ait sitogenetik analiz sonuçları değerlendirilmiştir. Amniyosentez ve fetal kan örneğine ilişkin tanı endikasyonlarını üçlü tarama testinde risk belirlenmesi, ileri anne yaşı ve ailede anomalili bebek öyküsü oluşturmuştur. Bulgular: Toplam 328 olgunun karyotip analizi yapılmıştır. Bunların arasında kromozom anomali oranı en yüksek olan grup amniyosentez grubudur, 5 olguda (%1.60) sayısal kromozom anomalisi ve 2 olguda (%0.64) yapısal kromozom anomalisi saptanmıştır. Bu olguların biri Turner sendromu (%0.32), 4’ü ise trizomi 21 (%1.28)’dir. Yapısal anomaliler ise 1 olguda Y kromozomunda heterokromatin bölge artışı (%0.64) ve 1 olguda Robertsonian translokasyon olarak belirlenmiştir (%0.64). Fetal kan örneğinde yapılan kromozom analizi sonucunda ise 2 olguda trizomi 21 (%11.76) 1 olguda ise 46,XX/46,XY belirlenmiştir. Sonuç: Kromozom anomalisi saptanan olgularda kromozom anomalisi ile endikasyon ilişkisi değerlendirildiğinde ileri anne yaşı ile uyumluluk olduğu gözlenmiştir

Prenatal diagnosis evaluation at medical biology and genetic department laboratory of Inönü University for two years

Objectives: In this study, we investigate fetal chromosome analysis results of 328 cases referred to Medical Biology and Genetic Department Laboratory, İnönü University between October 2005-August 2007 period. Methods: 311 amniocentesis and 17 fetal blood sample include 328 cases examined cytogenetic finding. The main indications for amniocentesis and fetal blood sample included advanced maternal age, abnormal maternal serum screening results, and abnormal children story findings. Results: A total of 328 cases were performed and analyzed for chromosome aberrations. Among these, the highest detection rate of chromosome aberrations were amniocentesis, 5 (1.60%) cases with numerical aberrations, one case with Turner syndrome (0.32%), four cases with trisomy 21 (1.28%) and 2 (0.64%) cases with structural aberrations, one case with Y chromosome heterochromatin polymorphism (0.64%), and one case with Robertsonian translocation (0.64%). Among fetal blood samples, there were 2 (11.76%) cases with chromosomal aberrations, and one case with 46,XX/46,XY. Conclusions: In our observations, in concordant with literature cases with chromosome aberrations were related with advantage maternal age.

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