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阿曼苏丹国复发性流产夫妇的细胞遗传学研究。

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman.

作者信息

Goud Tadakal Mallana, Mohammed Al Harassi Salma, Khalfan Al Salmani Kamla, Mohammed Al Busaidy Suleiman, Rajab Anna

机构信息

Central Public Health Laboratories, Darseit, Muscat, PO Box 393, Postal Code 113, Sultanate of Oman.

出版信息

Reprod Biomed Online. 2009 Mar;18(3):424-9. doi: 10.1016/s1472-6483(10)60104-6.

DOI:10.1016/s1472-6483(10)60104-6
PMID:19298745
Abstract

Miscarriage, defined as spontaneous pregnancy loss at <20-28 weeks' gestation, is a common clinical problem. Balanced chromosomal rearrangements in either parent are an important cause of repeated pregnancy loss, particularly in the first trimester. In this study, chromosomal abnormalities that cause recurrent miscarriage were evaluated in Omani parents and some of their dysmorphic children. A total of 380 couples (760 individuals) with two or more recurrent miscarriages were examined for chromosomal aberrations during the period 1999-2006. For each proband the chromosomal preparations were analysed and karyotyped after applying a Giemsa-trypsin banding method. The overall incidence of chromosomal anomaly was 26 out of 760 individuals (3.42%). These abnormalities included 21 (2.8%) structural aberrations and 5 (0.7%) numerical anomalies. In addition to these abnormalities, 39 (5.1%) chromosomal variants were also found. The nature of these abnormalities and their relation to obstetric history are discussed. In conclusion, chromosomal abnormality is one of the causes of recurrent miscarriage. This study illustrates the incidence and distribution of chromosomal abnormalities among Omani couples with recurrent miscarriage. Cytogenetic findings could provide valuable information for genetic counselling and allow monitoring of future pregnancies by prenatal diagnosis in couples with a history of recurrent miscarriage.

摘要

流产定义为妊娠<20 - 28周时的自然妊娠丢失,是一个常见的临床问题。父母任何一方的染色体平衡重排是反复妊娠丢失的重要原因,尤其是在孕早期。在本研究中,对阿曼夫妇及其一些畸形子女中导致反复流产的染色体异常进行了评估。在1999年至2006年期间,共检查了380对(760人)有两次或更多次反复流产的夫妇的染色体畸变情况。对每个先证者,应用吉姆萨 - 胰蛋白酶显带法后对染色体标本进行分析并核型分析。染色体异常的总体发生率为760人中的26人(3.42%)。这些异常包括21例(2.8%)结构畸变和5例(0.7%)数目异常。除了这些异常外,还发现了39例(5.1%)染色体变异。讨论了这些异常的性质及其与产科病史的关系。总之,染色体异常是反复流产的原因之一。本研究阐明了阿曼反复流产夫妇中染色体异常的发生率和分布情况。细胞遗传学结果可为遗传咨询提供有价值的信息,并有助于对有反复流产史的夫妇通过产前诊断监测未来妊娠情况。

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