İnterfaz hücrelerinde flüoresan in-situ hibridizasyon yöntemi ile anoploidi aranması
Amniosentez ve fetal karyotipleme, prenatal tanı amacıyla pek çok ülkede uygulanan bir yöntemdir. Bu yöntemler ile fetusun kromozom yapısı hakkında aile ve doktorun doğum gerçekleşmeden önce bilgi sahibi olması amaçlanmaktadır. Son yıllarda geliştirilmiş moleküler sitogenetik yöntem olan flüoresan in-situ hibridizasyon (FISH) amnion sıvısındaki interfaz hücrelerine uygulanması ile sonuç alma süresi çok kısalmıştır. Materyal-Metod: Bu çalışmada 20 ile 46 yaş ve 15 ile 32 gebelik haftası arasında olan otuz olgunun amniosentez sıvıları, klasik sitogenetik yöntem ve FISH yöntemi ile incelendi. Bulgular: Amniosentez endikasyonları; 16 olguda ileri anne yaşı, 6 olguda üçlü tarama testinde risk artışı, 3 olguda anormal ultrason bulgusu ve birer olguda ileri anne yaşı ve anormal ultrason birlikteliği, ileri anne yaşı ve üçlü testte risk artışı birlikteliği, maternal Down sendromu, koriyonik villus biyopsisinde trizomi 21 saptanması ve anksiyete idi. Olguların klasik sitogenetik yöntem ile incelenmesi sonucunda 16 olguda 46, XY; 11 olguda 46, XX; 3 olguda trizomi 21 saptandı. Bütün olgulara aynı anda 13, 18, 21, X ve Y probları ile FISH incelemesi yapıldı ve 24 saat içinde sonuçlar elde edildi. Uyguladığımız FISH yöntemi sonuçları klasik sitogenetik yöntem doğrulandı.
Aneuploidy screening by fluorescent in situ hybridisation method in the interfase cells
Introduction: Numerical and/or structural chromosomal abnormalities in the fetus can be detected by prenatal diagnostic methods. Fetal karyotyping is one of the prenatal diagnostic methods which is usually performed after the 14th week of gestation. More than 99 % of all chromosomal abnormalities comprise the aneuploidies of five chromosomes. These five chromosomes are number 13, 18, 21, X and Y. Recently the development of Fluorescent in situ Hybridization (FISH) for the analysis of chromosome aneuploidies in interphase cells has provided rapid results and the duration of informing the familtes has been shortened. Materials and Methods: In this study, amniotic fluid sampling (AFS) of 30 pregnants, ageing between 20 and 46 year-old and studied by both classical cytogenetic technique and FISH. Results: The gestational period for the sampling process of these women is between the 14th and 32th week of pregnancy. The indications of cytogenetic study in AFS were advanced maternal age (AMA) in 16 cases, triple test result pointing to increased risk in 6 cases, abnormal ultrasound findings in 3 cases, AMA with triple test result in 1 case, AMÂ with abnormal ultrasound findings in 1 case, Down syndrome in the mother in 1 case, trisomy21 in chorionic v'Ulus sampling in 1 case. Normal signalling in 27 cases and trisomy 21 in 3 cases were obtained by FISH. All results were obtained within 24 hours by FISH method and analysed by using classical cytogenetic method. Conclusion: In conclusion it is considered that FISH method can be used forgetting rapid result besides clasical cytogenetic method in the screening of,the. most common aneuploidies.
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