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Preimplantasyon genetik tanı: GATA sonuçları

Preimplantation genetic diagnosis: the GATA experience

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2007

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
In this study, results of genetic analysis, success rates of implantation, pregnancy and live birth of 18 patients in whom preimplantation genetic diagnosis was performed by making biopsy in their 3rd day embriyos with 6-8 blastomers at the Assisted Reproductive Techniques Unit of Department of Obstetrics and Gynecology of Gülhane Military Medical Faculty between September 2005 and June 2007 were evaluated. Genetic analysis was performed by fluorescent in situ hybridization method on the same day. According to the results of genetic analysis and embryonic growth, embryos with a number of 1 to 3 were transferred. Two hundred and nine oocytes were collected during in vitro fertilization procedures of 18 patients. Of these oocytes, intracytoplasmic sperm injection procedure was performed to 183, which were mature, and 127 embriyos were achieved. Blastomere biopsy was performed to 83 of these embryos which had grade I quality. When the patients were analyzed according to the indications of preimplantation genetic diagnosis, 1, 11, 5 and 1 patients had a history of chromosomal anomaly, recurrent implantation failure, recurrent abortus and cryptozoospermia, respectively. Of the 16 patients performed embryo transfer after preimplantation genetic diagnosis, 8 (50%) and 5 (31.3%) patients had chemical and clinical pregnancy, respectively. In view of the results of the present study preimplantation genetic diagnosis seems to be an effective method in in vitro diagnosis of chromosomal anomalies of couples who have a risk of genetic disease and/or recurrent implantation failure.
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Abstract (Original Language): 
Bu çalışmada, GATF Kadın Hastalıkları ve Doğum AD Yardımcı Üreme Teknikleri Ünitesinde Eylül 2005 ile Haziran 2007 arasında 6-8 blastomer aşamasındaki 3. gün embriyolarından biyopsi alınarak preimplantasyon genetik tanı uygulanmış 18 hasta ve genetik analiz sonuçları, implantasyon ve gebelik başarısı ile canlı doğum oranları değerlendirildi. Genetik inceleme aynı gün içerisinde flöresan in situ hibridizasyon yöntemi kullanılarak yapıldı. Genetik analiz sonuçlarına ve embriyonal gelişime göre 1-3 arası embriyo transfer edildi. On sekiz hastanın in vitro fertilizasyon uygulamaları sırasında 209 oosit toplandı. Bu oositlerden matür olan 183 tanesine "intracytoplasmic sperm injection" işlemi uygulandı ve 127 embriyo elde edildi. Bu embriyolardan Grade I kalitede olan 83 embriyoya blastomer biyopsisi yapıldı. Preimplantasyon genetik tanı endikasyonları açısından hastalar incelendiğinde, 1 hastaya kromozomal anomali öyküsü, 11 hastaya tekrarlayan implantasyon başarısızlığı, 5 hastaya tekrarlayan gebelik kaybı, 1 hastaya ise kriptozoospermi nedeni ile preimplantasyon genetik tanı uygulandı. Preimplantasyon genetik tanı uygulaması sonrası embriyo transferi uygulanan 16 hastanın 8'inde kimyasal gebelik oluşurken (%50), 5 hastada klinik gebelik tespit edildi (%31.3). Bu sonuçlar ışığında preimplantasyon genetik tanı, genetik hastalık riskine sahip ve/veya tekrarlayan implantasyon başarısızlığı olan çiftler için kromozomal anomalilerin in vitro tanısında etkin bir yöntem olarak görünmektedir.
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  • 4
245-249
  • Turkish

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Tablo I. Preimplantasyon genetik taný uygulanan hastalarýn endikasyonlarý ve preimplantasyon genetik taný sonuçlarý
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Preimplantasyon genetik
Preimplantasyon genetik taný taný uygulanan Preimplantasyon genetik taný sonucu
embriyo sayýsý
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Yaþ ve kromozomal anomali öyküsü 6 3 normal, 1 monozomi 18, 2 kompleks anöploidi
Tekrarlayan implantasyon baþarýsýzlýðý 6 4 normal, 1 monozomi 16, 1 monozomi 18
Tekrarlayan gebelik kaybý öyküsü 5 2 normal, 1 trizomi 13, 1 trizomi 18, 1 nükleus yok
Tekrarlayan implantasyon baþarýsýzlýðý 5 4 normal, 1 monozomi 18
Tekrarlayan implantasyon baþarýsýzlýðý 4 1 normal, 1 monozomi 16, 2 monozomi 18
Tekrarlayan implantasyon baþarýsýzlýðý 5 1 normal, 1 anöploidi, 1 monozomi 21, 1 monozomi 22, 1 tetrozomi 18
Tekrarlayan gebelik kaybý 6 2 normal, 2 anöploidi, 1 monozomi 21,
Tekrarlayan gebelik kaybý 4 3 normal, 1 monozomi 13
Tekrarlayan implantasyon baþarýsýzlýðý 5 3 normal, 1 monozomi 13, 1 triploidi
Tekrarlayan implantasyon baþarýsýzlýðý 6 3 normal, 1 monozomi 13, 2 monozomi 16
Kriptozoospermi 3 3 oositte de nükleus yok
Tekrarlayan gebelik kaybý 4 2 normal, 1 monozomi 18 monozomi 5p, 1 trizomi 13
Tekrarlayan implantasyon baþarýsýzlýðý 7 3 normal, 1 monozomi 13, 1 monozomi 16, 2 trizomi 21
Tekrarlayan implantasyon baþarýsýzlýðý 4 1 trizomi 16, 1 monozomi 16, 1 trizomi 21, 1 adet 3 nükleuslu
Tekrarlayan implantasyon baþarýsýzlýðý 8 3 kompleks anöploidi, 2 monozomi 16, 1 monozomi 18, 1 trizomi 18, 1 kaotik
Tekrarlayan implantasyon baþarýsýzlýðý 8 4 normal, 4 monozomi 16
Tekrarlayan gebelik kaybý 5 1 normal, 1 trizomi 16, 1 monozomi 18, 1 kompleks anöploidi, 1 nükleus yok
Tekrarlayan implantasyon baþarýsýzlýðý 10 5 normal, 2 monozomi 16, 1 monozomi 21, 1 monozomi 22, trizomi 1 Preimplantasyon genetik taný · 249
years and older with a history of recurrent miscarriages.
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