Tulay Pinar, Gültomruk Meral, Fındıklı Necati, Bahçeci Mustafa
Department of Medical Genetics, Near East University School of Medicine, Near East Avenue, Nicosia, Cyprus.
Bahçeci Assisted Reproductive Technology Centre, İstanbul, Turkey.
J Turk Ger Gynecol Assoc. 2016 Jan 12;17(2):91-5. doi: 10.5152/jtgga.2016.16043. eCollection 2016.
Carriers of reciprocal and Robertsonian translocations have a higher risk of experiencing infertility and repeated miscarriages. It is well established that with advancing maternal age, the risk of aneuploidies in embryos increases. In this study, the chance of developing balanced embryos in translocation carriers with advanced maternal age was analyzed to establish a management scheme for couples seeking fertility treatment and preimplantation genetic diagnosis (PGD).
Biopsy was performed on cleavage-stage embryos. Multicolor fluorescence in situ hybridization was used for PGD. The translocation carriers underwent a total of 55 cycles of PGD. Genetics diagnosis and cycle outcomes of PGD cases were examined.
This study showed that the chance of obtaining a balanced embryo from the Robertsonian translocation carriers was significantly less when the maternal age is advanced. Similar rates for balanced embryos were obtained from the reciprocal translocation carriers.
The results of this study show that maternal age plays an important role and that genetic counselling and planning for a PGD cycle in translocation carriers, particularly for Robertsonian carriers, must be accordingly adapted.
相互易位和罗伯逊易位携带者经历不孕和反复流产的风险更高。众所周知,随着母亲年龄的增长,胚胎非整倍体的风险增加。在本研究中,分析了高龄母亲易位携带者发育出平衡胚胎的机会,以建立针对寻求生育治疗和植入前基因诊断(PGD)的夫妇的管理方案。
对卵裂期胚胎进行活检。多色荧光原位杂交用于PGD。易位携带者共进行了55个PGD周期。检查PGD病例的遗传学诊断和周期结果。
本研究表明,当母亲年龄较大时,从罗伯逊易位携带者获得平衡胚胎的机会显著减少。相互易位携带者获得平衡胚胎的比例相似。
本研究结果表明母亲年龄起着重要作用,并且必须相应调整易位携带者,特别是罗伯逊携带者PGD周期的遗传咨询和计划。