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复发性流产中染色体重排谱的研究

Study of Spectrum of Chromosomal Rearrangements in Recurrent Pregnancy Loss.

作者信息

Bhatt R K, Agarwal M

机构信息

1Department of Obstetrics and Gynaecology, Army Hospital Research and Referral, New Delhi, India.

2Department of Lab Sciences and Molecular Medicine, Army Hospital Research and Referral, New Delhi, India.

出版信息

J Obstet Gynaecol India. 2020 Jun;70(3):189-194. doi: 10.1007/s13224-020-01305-9. Epub 2020 Feb 8.

DOI:10.1007/s13224-020-01305-9
PMID:32476764
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7239979/
Abstract

INTRODUCTION

Recurrent pregnancy losses (RPLs) are seen in up to 15-20% of all clinically recognized pregnancies, 1-2% of women in general population. Repeated losses are seen in 5-10% of women. The prevalence of chromosomal rearrangements is 6.65% in couples with repeated pregnancy losses. Two to 4% of RPL are associated with parental balanced reciprocal and Robertsonian translocations.

MATERIALS AND METHODS

The study was conducted at a tertiary care hospital in New Delhi, and in total, 204 couples with RPL enrolled in the study.

RESULTS

In total, 4490 couples presented to the obstetric clinic, of which 204 (4.5%) couples had repeated pregnancy losses. Cytogenetic analysis was done in 198 couples. Out of total 198 patients, 14 patients (7.1%) had cytogenetic alterations. Most common aberrations observed were structural rearrangements, of which reciprocal translocations were more common. In our study cohort, all the couples had maternal age of ≤ 35 years and all the alterations were seen either in mother or in both parents.

DISCUSSION

Our study highlights that cytogenetic alterations not only are common in first trimester miscarriages, but are an important event in miscarriages presenting at later period of gestation and in young mothers as well.

摘要

引言

复发性流产(RPL)在所有临床确诊的妊娠中发生率高达15% - 20%,在普通人群中的女性发生率为1% - 2%。5% - 10%的女性会出现反复流产。在复发性流产的夫妇中,染色体重排的发生率为6.65%。2% - 4%的复发性流产与父母的平衡易位和罗伯逊易位有关。

材料与方法

该研究在新德里的一家三级护理医院进行,共有204对复发性流产夫妇参与了该研究。

结果

总共有4490对夫妇前往产科门诊就诊,其中204对(4.5%)夫妇有复发性流产。对198对夫妇进行了细胞遗传学分析。在总共198名患者中,14名患者(7.1%)有细胞遗传学改变。观察到的最常见异常是结构重排,其中相互易位更为常见。在我们的研究队列中,所有夫妇的母亲年龄均≤35岁,所有改变均见于母亲或父母双方。

讨论

我们的研究强调,细胞遗传学改变不仅在孕早期流产中常见,而且在妊娠后期流产以及年轻母亲流产中也是一个重要事件。

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本文引用的文献

1
A Study on Balanced Chromosomal Translocations in Couples with Recurrent Pregnancy Loss.反复流产夫妇平衡染色体易位的研究
J Hum Reprod Sci. 2018 Oct-Dec;11(4):337-342. doi: 10.4103/jhrs.JHRS_132_17.
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Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.通过常规细胞遗传学分析检测到的早孕期流产产物中的染色体异常:1000 例病例回顾。
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A family with Robertsonian translocation: a potential mechanism of speciation in humans.一个患有罗伯逊易位的家族:人类物种形成的一种潜在机制。
Mol Cytogenet. 2016 Jun 18;9:48. doi: 10.1186/s13039-016-0255-7. eCollection 2016.
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Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China.罗伯逊易位:中国一家诊断实验室鉴定出的872例罗伯逊易位概述。
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Spontaneous abortion and recurrent miscarriage: A comparison of cytogenetic diagnosis in 250 cases.自然流产与复发性流产:250例细胞遗传学诊断比较
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Robertsonian translocation between chromosomes (no.21/14) in relation to the history of spontaneous abortion in a family.一个家族中染色体(21号/14号)之间的罗伯逊易位与自然流产史的关系。
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Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of chromosome abnormalities or polymorphisms.与父母一方为染色体异常或多态性携带者相关的复发性流产的生殖结局。
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