{"title":"复发性流产的染色体异常模式:一项单中心回顾性研究。","authors":"Ayca Kocaaga, Halime Kilic, Sevgi Gulec","doi":"10.5144/0256-4947.2022.385","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM.</p><p><strong>Objectives: </strong>Evaluate the spectrum and the frequencies of chromosomal anomalies in RM.</p><p><strong>Design: </strong>A retrospective hospital record-based descriptive study.</p><p><strong>Setting: </strong>A tertiary care center in Turkey.</p><p><strong>Patients and methods: </strong>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.</p><p><strong>Main outcome measures: </strong>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%).</p><p><strong>Conclusions: </strong>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.</p><p><strong>Limitations: </strong>Single-center study and retrospective.</p><p><strong>Conflict of interest: </strong>None.</p>","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/11/0256-4947.2022.385.PMC9706713.pdf","citationCount":"1","resultStr":"{\"title\":\"The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study.\",\"authors\":\"Ayca Kocaaga, Halime Kilic, Sevgi Gulec\",\"doi\":\"10.5144/0256-4947.2022.385\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Chromosomal abnormalities are more common in first trimester recurrent miscarriages (RM). Chromosomal anomalies affect approximately 2%-8% of couples with RM.</p><p><strong>Objectives: </strong>Evaluate the spectrum and the frequencies of chromosomal anomalies in RM.</p><p><strong>Design: </strong>A retrospective hospital record-based descriptive study.</p><p><strong>Setting: </strong>A tertiary care center in Turkey.</p><p><strong>Patients and methods: </strong>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.</p><p><strong>Main outcome measures: </strong>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%).</p><p><strong>Conclusions: </strong>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.</p><p><strong>Limitations: </strong>Single-center study and retrospective.</p><p><strong>Conflict of interest: </strong>None.</p>\",\"PeriodicalId\":8016,\"journal\":{\"name\":\"Annals of Saudi Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/11/0256-4947.2022.385.PMC9706713.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Saudi Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5144/0256-4947.2022.385\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Saudi Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5144/0256-4947.2022.385","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study.
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.
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.
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