Ghazaey Saeedeh, Keify Fatemeh, Mirzaei Farzaneh, Maleki Masumeh, Tootian Semiramis, Ahadian Mitra, Abbaszadegan Mohammad Reza
Medical Genetics Research Center, Medical School, Mashhad University of Medical Sciences, Mashhad, Iran ; Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
Int J Fertil Steril. 2015 Apr-Jun;9(1):47-54. doi: 10.22074/ijfs.2015.4208. Epub 2015 Apr 21.
Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously.
In this retrospective study, the pattern of chromosomal aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
In this study, about 11.7% of couples were carriers of chromosomal aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent chromosomal anomalies (62.7%) detected in current study.
These findings suggest that chromosomal abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by chromosomal abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.
对反复流产进行细胞遗传学研究是确定早期胚胎发育遗传背景的一个重要方面。在人类所有妊娠中，约15%至20%以反复自然流产（RSA）告终。本研究的目的是检测RSA夫妇的染色体异常情况，并将我们的结果与先前报道的结果进行比较。
在这项回顾性研究中，评估了2005年至2011年这六年期间的染色体畸变模式。研究对象是728对夫妇，他们在伊朗马什哈德的帕尔迪斯临床与遗传学实验室因反复自然流产接受遗传咨询服务。
在本研究中，约11.7%的夫妇是染色体畸变携带者。大多数异常情况出现在有流产史但无死产或活产史的夫妇中。在这些病例中发现了平衡易位、罗伯逊易位、倒位和性染色体非整倍体。平衡易位是本研究中检测到的最常见的染色体异常（62.7%）。
这些发现表明染色体异常可能是反复自然流产的重要原因之一。此外，如果反复自然流产是由染色体异常引起的，对经历过反复自然流产的家庭进行细胞遗传学研究可能会避免不必要的治疗。反复自然流产病例的细胞遗传学研究结果将为遗传咨询师提供一个标准方案，以便对这些家庭进行随访和帮助。
