The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study.

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Annals of Saudi Medicine Pub Date : 2022-11-01 DOI:10.5144/0256-4947.2022.385

Ayca Kocaaga, Halime Kilic, Sevgi Gulec

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引用次数: 1

Abstract

Background: Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM.

Objectives: Evaluate the spectrum and the frequencies of chromosomal anomalies in RM.

Design: A retrospective hospital record-based descriptive study.

Setting: A tertiary care center in Turkey.

Patients and methods: We studied couples with RM between October 2020 and January 2022. Relevant family and medical history, clinical examination and the results of karyotype were statistically analyzed.

Main outcome measures: Prevalence and types of chromosomal aberrations in couples with RM. SAMPLE SİZE: 362 couples with a history of RM RESULTS: Among the 362 couples, 14 cases (3.86%) had chromosome abnormalities. Eight cases (57.14%) were structural anomalies and six cases (42.86%) were numerical chromosomal aberrations. We found five balanced translocations (67.5%) and three Robertsonian translocations (37.5%). The prevalence of polymorphic variants was 51/362 (14.1%).

Conclusions: This study supports the conclusion that clinicians should understand the importance of chromosome analysis in these couples and direct them to karyotyping after two abortions in order to exclude the possibility of a genetic cause of RM.

Limitations: Single-center study and retrospective.

Conflict of interest: None.

Abstract Image

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复发性流产的染色体异常模式:一项单中心回顾性研究。

背景:染色体异常在妊娠早期复发性流产(RM)中更为常见。染色体异常影响约2%-8%的RM夫妇。目的:评价RM染色体异常的谱和频率。设计:一项基于医院记录的回顾性描述性研究。环境:土耳其的一个三级保健中心。患者和方法:我们研究了2020年10月至2022年1月期间患有RM的夫妇。对相关家族史、病史、临床检查及核型结果进行统计学分析。主要观察指标:RM夫妇中染色体畸变的发生率和类型。样本SİZE: 362对有RM病史的夫妇结果:362对夫妇中，染色体异常14例(3.86%)。结构异常8例(57.14%)，数字染色体畸变6例(42.86%)。发现5个平衡易位(67.5%)和3个罗伯逊易位(37.5%)。多态性变异发生率为51/362(14.1%)。结论:本研究支持这样的结论:临床医生应该了解染色体分析对这些夫妇的重要性，并指导他们在两次流产后进行核型分析，以排除RM遗传原因的可能性。局限性:单中心研究和回顾性研究。利益冲突:无。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Saudi Medicine 医学-医学：内科

CiteScore

2.80

自引率

0.00%

发文量

审稿时长

4-8 weeks

期刊介绍： The Annals of Saudi Medicine (ASM) is published bimonthly by King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. We publish scientific reports of clinical interest in English. All submissions are subject to peer review by the editorial board and by reviewers in appropriate specialties. The journal will consider for publication manuscripts from any part of the world, but particularly reports that would be of interest to readers in the Middle East or other parts of Asia and Africa. Please go to the Author Resource Center for additional information.