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570对复发性流产夫妇的细胞遗传学分析:11年经验报告

Cytogenetic Analysis of 570 Couples with Recurrent Pregnancy Loss: Reporting 11 Years of Experience.

作者信息

Alibakhshi Reza, Nejati Parham, Hamani Sara, Mir-Ahadi Narges, Jalilian Nazanin

机构信息

Department of Clinical Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.

Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran.

出版信息

J Hum Reprod Sci. 2020 Jul-Sep;13(3):216-220. doi: 10.4103/jhrs.JHRS_138_19. Epub 2020 Oct 27.

Abstract

OBJECTIVES

Recurrent pregnancy loss (RPL) is a serious complication of pregnancies, affecting almost 2%-5% of couples. Among numerous underlying causes, chromosomal anomalies in one of the partners are regarded as important issues, with varying frequencies among different populations. In this study, we aimed to determine the prevalence of chromosomal abnormalities and chromosome polymorphisms in couples with a history of RPL from Kermanshah province, west of Iran.

MATERIALS AND METHODS

In this 11-year retrospective study, a total of 1140 cases with two or more spontaneous abortions were recruited and studied according to standard cytogenetic analysis.

RESULTS

From a total of 1140 reviewed blood samples, 1011 people (88.5%) had a normal karyotype and 129 people (11.5%) had chromosomal aberrations. These aberrations were found in 62 females and 67 males. The prevalence of chromosomal abnormalities was as follows: 18 (1.5%) structural aberrations, 1 numerical anomaly and 110 (9.6%) apparently normal polymorphic variants.

CONCLUSIONS

Our findings could determine the underlying cause of RPL in 1.5% of the population while the majority still remained unexplained. This emphasizes the importance of searching for other genetic and nongenetic causes of RPL in apparently idiopathic cases of RPL.

摘要

目的

复发性流产(RPL)是妊娠的一种严重并发症,影响近2%-5%的夫妇。在众多潜在原因中,夫妇一方的染色体异常被视为重要问题,在不同人群中的发生率各不相同。在本研究中,我们旨在确定伊朗西部克尔曼沙阿省有复发性流产病史的夫妇中染色体异常和染色体多态性的患病率。

材料与方法

在这项为期11年的回顾性研究中,共招募了1140例有两次或更多次自然流产的病例,并根据标准细胞遗传学分析进行研究。

结果

在总共1140份检查的血样中,1011人(88.5%)核型正常,129人(11.5%)有染色体畸变。这些畸变在62名女性和67名男性中被发现。染色体异常的患病率如下:18例(1.5%)结构畸变,1例数目异常,110例(9.6%)明显正常的多态性变异。

结论

我们的研究结果可以确定1.5%的人群中复发性流产的潜在原因,而大多数情况仍无法解释。这强调了在明显特发性复发性流产病例中寻找复发性流产其他遗传和非遗传原因的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a81c/7727881/57e1a7cbf5f1/JHRS-13-216-g001.jpg

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