TEK GEN HASTALIKLARI NEDENİYLE PREİMPLANTASYON GENETİK TANI UYGULANAN HASTALARIMIZIN RETROSPEKTİF ANALİZİ: ÜÇ YILLIK DENEYİMİMİZ A Retrospective Analysis of Patients who Underwent Preimplantation Genetic Diagnosis Due to Single Gene Defects: Our Three Years Experience

Yıl 2017, Cilt: 7 Sayı: 4, 42 - 45, 13.12.2017

Turgut Aydın Burak Yücel

Öz

ÖZET

Amaç: Bu çalışmada, kliniğimizde farklı tek gen hastalıkları nedeniyle preimplantasyon genetik

tanı (PGT) uygulanan hastalarımızın sonuçlarını değerlendirmeyi amaçladık.

Gereç ve Yöntem: Tüp bebek merkezimize başvuran 16 farklı tek gen hastalığı için 29 siklusta

PGT uygulanan 22 hasta çalışmaya dahil edildi. Hastaların sonuçları retrospektif olarak değerlendirildi.

Bulgular: Ebeveynlerden birinde bilenen tek gen hastalığı bulunan 12 hastada, hastalığın yeni

nesle aktarılmaması amacıyla, 16 siklusta toplam 114 embriyo üzerinde yapılan PGT sonrası

24 sağlıklı, 25 taşıyıcı, 65 hasta embriyo tespit edildi. Embriyo transfer yapılan 14 siklusta 10

gebelik elde edilmiş 9’u canlı doğumla sonlanmıştır.Hastalarımızdan 10 çifte PGT beraberinde

insan lökosit antijeni (HLA) doku tiplemesi yapılmıştır. 13 siklusta elde edilen toplam 130

embriyonun; 22’si sağlıklı 18’i taşıyıcı, 90 embriyo ise tek gen hastalığına sahip idi. Embriyo

transferi yapılan 10 siklusta 5 gebelik elde edilmiş, 4’ü canlı doğumla sonlanmıştır.

Sonuç: İn-vitro fertilzasyon ile birlikte uygulanan PGT, genetik hastalığın yeni nesillere aktarımı

riskine sahip çiftlere, sağlıklı gebelik için avantaj sunar. Tek gen hastalığı nedeniyle gebeliği

sonlandırma riski ortadan kalkar. Bu avantajları yanında diğer in-vitro fertilzasyon endikasyonları

ile en az benzer gebelik ve canlı doğum oranları sağlaması nedeniyle önerilmesi gereken

bir seçenektir. Bazı özel durumlarda ise hayat kurtarıcı bir yöntemdir.

Anahtar Sözcu¨kler: Preimplantasyon Genetik Tanı;Tek Gen Hastalıkları; HLA Antijeni

ABSTRACT

Aim: In this study, we aimed to determine the treatment results of patients who underwent

preimplantation genetic diagnosis (PGD) due to single gene defects.

Material and Methods: The results of 29 cycles in 22 patients with 16 different single

gene disorders were included into the analysis. The results of patients were evaluated

retrospectively.

Findings: PGD without HLA tissue typing was performed to prevent the transmission of the

single gene disorder to their offspring in twelve couples in whom a single gene defect was

detected in a single partner. One hundred and fourteen embryos were obtained in 16 cycles.

Twenty-four of them were healthy, 25 of them were genetic mutation carriers and 65 had

genetic mutation. 22 embryos were transferred in 14 cycles and 10 pregnancies with 9 live

births occurred. Additional HLA tissue typing was performed in 10 couples who underwent

PGD. One hundred and thirty embryos were obtained in 13 cycles. Twenty-two of them were

healthy and 18 were genetic mutation carriers and 90 embryos had SGD. Embryo transfer

could be performed in 10 cycles and 5 pregnancies with 4 live births were obtained.

Result: PGD with in vitro fertilization allows the possibility of a healthy pregnancy for couples

under the risk of transmitting single gene disorders to their offspring and it eliminates the

risk of termination of pregnancy. With these advantages, it should be offered to couples

with single gene disorders since it is shown to have similar pregnancy and live birth rates

compared with other indications of in vitro fertilization. PGD is a life-saving procedure in

some special cases.

Keywords: Preimplantation Genetic Diagnosis; Single Gene Defects; HLA Antigens

Anahtar Kelimeler

TEK GEN HASTALIKLARI NEDENİYLE PREİMPLANTASYON GENETİK TANI UYGULANAN HASTALARIMIZIN RETROSPEKTİF ANALİZİ: ÜÇ YILLIK DENEYİMİMİZ A Retrospective Analysis of Patients who Underwent Preimplantation Genetic Diagnosis Due to Single Gene Defects: Our Three Years Experience

Kaynakça

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