Ayşegül TÜRKYILMAZ, M. Nail ALP, Turgay BUDAK

481 amniyosentez, koryon villus biyopsisi ve kordosentez örneğinin prenatal genetik tanısı

Bu çalışmada; 1999–2001 tarihleri arasında Dicle Üniversitesi Tıp Fakültesi Tıbbi Biyoloji A.D. Prenatal Tanı Laboratuvarına sitogenetik tanı amacıyla gönderilen Koryon Villi Örneklemesi(CVS), Amniyosentez (AS) ve Kordosentez (KS)’e ait toplam 481 örnek materyal değerlendirilmiştir. Toplam 24 örnekte anormal kromozom kuruluşu saptanmıştır. Bunlardan 11 örnekte Trizomi 21 (Down Sendromu), 2 örnekte 14 ve 21 nolu kromozomlar arasında Robertson tipi translokasyonlu Down Sendromu, 1 örnekte mozaik Down Sendromu, 1 örnekte dengeli translokasyon kromozomu taşıyıcılığı, 2 örnekte Turner Sendromu, 1 örnekte Triple X Sendromu, 2 örnekte Triploidi, 1 örnekte Parsiyel trizomi 3, 1 örnekte derivativ kromozom, 1 örnekte tekrarlamayan sayısal ve yapısal düzensizlik, 1 örnekte de marker kromozom kuruluşu saptanmıştır. 15 örnekte üreme olmamıştır. Yanlış pozitif -negatif sonucumuz yoktur.

Anahtar Kelimeler:

İmplantasyon öncesi tanı, Sitolojik tanı, Koryon villi biyopsisi, Doğum öncesi tanı, Kordosentez

Prenatal genetic diagnosis in 481 amniocentesis, chorion villi sample and cordocentesis specimens

In this study, we evaluated a total of 481 amniocentesis , cordocentesis and corion villi sample specimens from patients who were referred to the Prenatal Diagnostic Laboratory of Department of Medical Biology and Genetics Department of Medical Faculty of University of Dicle, between 1999 and 2001. A total of 24 specimens were found cytogenetically abnormal, of which 11 were trisomy 21 ( Down Syndrome), two were Down Syndrome with Robertsonian type of translocation between chromosome 14 and 21, one was mosaic Down Syndrome , one was balanced translocated chromosome carrier, two were Turner Syndrome, one was triple X syndrome, two were triploidy, one was partial trisomy 3, one was derivative chromosome, one was nonrepetitive numerical and structural abnormality, and one was marker chromosome. Unfortunately, we could not have results in 15 of culture samples. There were no false positive and false negative results.

Keywords:

Preimplantation Diagnosis, Cytodiagnosis, Chorionic Villi Sampling, Prenatal Diagnosis, Cordocentesis,

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