Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory

Shailesh Pande, A. Pais, Gauri N. Pradhan, Yamini Jadhav, Chaitali Parab, Bharat Kalthe, S. Matkar
{"title":"Cytogenetics and Importance of Genetic Counselling in Recurrent Pregnancy Losses: Experience from Tertiary Care Laboratory","authors":"Shailesh Pande, A. Pais, Gauri N. Pradhan, Yamini Jadhav, Chaitali Parab, Bharat Kalthe, S. Matkar","doi":"10.21013/jas.v9.n1.p2","DOIUrl":null,"url":null,"abstract":"Loss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients,  and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.","PeriodicalId":14487,"journal":{"name":"IRA-International Journal of Applied Sciences","volume":"12 1","pages":"9-12"},"PeriodicalIF":0.0000,"publicationDate":"2017-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"IRA-International Journal of Applied Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21013/jas.v9.n1.p2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Loss of pregnancy either naturally or by medical termination is a destructive experience to the couple, especially those experiencing recurrent pregnancy losses (RPL). It is important to rule out the genetic aspect as the cause of pregnancy wastages. This retrospective study aimed to determine the frequency of chromosomal abnormalities and its various cytogenetic types in the samples received by Metropolis Healthcare laboratory, Mumbai. This study was conducted on the samples referred for chromosomal karyotyping with a history of Bad Obstetric History (BOH). The couples who had an experience of two or more pregnancy losses were included in this study. Out of the 2102 samples referred, chromosomal abnormality was recorded in 384 (18.27%) cases. Out of chromosomal abnormal cases, 126 (5.99%) patients had reciprocal translocations out of which 27 (21.43%) were Robertsonian translocations. Inversion of chromosome 9 was seen in 81 (21.09%) patients, while inversion Y in 28 (7.29%) patients,  and polymorphic variation like increase in length of satellite or heterochromatic region recorded in almost 149 (38.30%) patients. Cytogenetic evaluation of couples with recurrent pregnancy losses (RPL) is very important as after knowing the parental chromosomal pattern appropriate counseling can be offered to know the risk of recurrence, option of prenatal diagnosis and also opens the option of reproduction in some cases. This will also help them to have a cytogenetically healthy baby. Since the cytogenetic abnormalities are usually familial, the close blood relatives may also be benefited once the abnormality is detected.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
细胞遗传学和遗传咨询在复发性妊娠丢失中的重要性:来自三级保健实验室的经验
无论是自然流产还是医疗终止妊娠,对夫妇来说都是一种破坏性的经历,尤其是那些反复流产的夫妇。重要的是要排除遗传因素作为妊娠浪费的原因。本回顾性研究旨在确定孟买大都会卫生保健实验室收到的样本中染色体异常及其各种细胞遗传学类型的频率。本研究对有不良产科史(BOH)的患者进行染色体核型分析。有两次或两次以上流产经历的夫妇被纳入这项研究。在2102例样本中,染色体异常384例(18.27%)。染色体异常126例(5.99%)为反向易位,其中罗伯逊易位27例(21.43%)。9号染色体反转81例(21.09%),Y染色体反转28例(7.29%),卫星区或异色区长度增加等多态性变异149例(38.30%)。反复流产夫妇的细胞遗传学评估非常重要,因为在了解父母染色体模式后,可以提供适当的咨询,以了解复发的风险,产前诊断的选择,在某些情况下还可以选择生育。这也将有助于他们有一个细胞遗传学健康的婴儿。由于细胞遗传学异常通常是家族性的,一旦发现异常,近亲也可能受益。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Realization and Experimental Study of a Hybrid Cooker (Solar-Biomass) in a Sahelian Climate Automatic MRI Brain Tumor Segmentation Techniques: A Survey Simulation of the Injection of 25 MW Photovoltaic Energy Production: Analysis of the Impacts on the Grid of the Société Béninoise d'Energie Electrique (SBEE) Deep Learning Feature Extraction for Brain Tumor Characterization and Detection Optimal Algorithm Selection in Multimodal Medical Image Registration
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1