CHROMOSOME ABNORMALITIES

染色体异常
  • 文章类型: Journal Article
    背景:在引入ICSI之后的十年中,新生染色体异常的患病率较高,特别是性染色体和常染色体结构异常,与自然受孕(NC)儿童和标准IVF受孕儿童相比,ICSI受孕儿童中还描述了遗传性异常。对观察到的患病率增加的解释尚不清楚,已被建议反映父母因素(例如年龄或精子质量)或ICSI程序本身的结果。多年来,程序,以及患者群体,ICSI治疗的适应症发生了变化。
    本系统评价和荟萃分析的目的是评估ICSI妊娠和儿童染色体异常的患病率,并检查与标准IVF和NC相比可能增加的风险。
    方法:发布,Embase,搜索了截至2020年10月的Cochrane图书馆和WebofScience。主要结果指标是总体染色体异常和从头异常(包括性染色体异常和常染色体异常)。次要结果是遗传异常。我们遵循PRISMA指南并进行了相关的荟萃分析。
    结果:搜索包括4648篇文章,其中27人符合纳入标准,19例纳入定量合成(荟萃分析).染色体异常的患病率在研究之间差异很大,可能是由样本量和患者人口统计学的巨大差异来解释的。只有5项研究符合对调整数据进行汇总分析的条件。所有研究都有严重的偏倚风险。合并调整数据的结果显示,当ICSI与标准IVF(aOR0.75(95%CI0.41-1.38))或NC(aOR1.29(95%CI0.69-2.43))进行比较时,没有证据表明总体染色体异常的风险增加。相比之下,对未校正数据的荟萃分析显示,与标准IVF(OR1.42(95%CI1.09-1.85))和NC(OR2.46(95%CI1.52-3.99))相比,ICSI中总体染色体异常的风险增加,与NC相比,ICSI中从头异常的风险增加(OR2.62(95%CI2.07-3.31)).然而,基于非常低的证据确定性,结论仍然存在,没有迹象表明ICSI后代染色体异常的风险增加。如果在选定的ICSI后代中染色体异常的风险增加,绝对风险仍然很小。
    这篇综述提供了有关ICSI与后代染色体异常之间关系的现有证据的广泛概述。我们强调需要精心设计的大型,prospective,系统细胞遗传学检测的对照研究。现有数据有限,在许多情况下,受到临界偏差水平的损害。
    BACKGROUND: In the decade following the introduction of ICSI, a higher prevalence of de novo chromosome abnormalities, in particular sex chromosome and autosomal structural abnormalities, as well as inherited abnormalities was described in children conceived by ICSI compared to both naturally conceived (NC) children and children conceived by standard IVF. The explanation for the observed increase in prevalence is not clear and has been suggested to reflect parental factors (e.g. age or sperm quality) or to be a result of the ICSI procedure itself. Over the years, the procedure, as well as the patient group, and indications for ICSI treatment have changed.
    UNASSIGNED: The objective of this systematic review and meta-analysis was to assess the prevalence of chromosome abnormalities in ICSI pregnancies and children and to examine any potentially increased risk compared to standard IVF and NC.
    METHODS: Pubmed, Embase, Cochrane Libraries and Web of Science up to October 2020 were searched. Primary outcome measures were overall chromosome abnormalities and de novo abnormalities (including sex chromosome abnormalities and autosomal abnormalities). The secondary outcome was inherited abnormalities. We followed the PRISMA guidelines and relevant meta-analyses were performed.
    RESULTS: The search included 4648 articles, out of which 27 met the inclusion criteria, and 19 were included in quantitative synthesis (meta-analyses). The prevalence of chromosome abnormalities varied considerably between studies, possibly explained by large differences in sample size and patient demographics. Only five studies were eligible for pooled analyses on adjusted data. All studies had a critical risk of bias. Results from pooled adjusted data showed no evidence of an increased risk of overall chromosome abnormalities when comparing ICSI to either standard IVF (aOR 0.75 (95% CI 0.41-1.38)) or NC (aOR 1.29 (95% CI 0.69-2.43)). In contrast, meta-analyses on unadjusted data showed an increased risk of overall chromosome abnormalities in ICSI compared to both standard IVF (OR 1.42 (95% CI 1.09-1.85)) and NC (OR 2.46 (95% CI 1.52-3.99)) and an increased risk of de novo abnormalities in ICSI compared to NC (OR 2.62 (95% CI 2.07-3.31)). Yet, based on a very low certainty of evidence, the conclusion remains, that no indication of an increased risk of chromosome abnormalities in ICSI offspring could be found. If an increased risk of chromosome abnormalities in selected ICSI offspring should exist, the absolute risk continues to be small.
    UNASSIGNED: This review provides an extensive overview of the existing evidence on the relationship between ICSI and chromosome abnormalities in the offspring. We highlight the need for well-designed large, prospective, controlled studies with systematic cytogenetic testing. Existing data are limited and, in many cases, marred by critical levels of bias.
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  • 文章类型: Journal Article
    Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature calcification that is usually noticeable in the prenatal period and infancy. Etiologically, the condition is heterogeneous, and the causes include fetal conditions such as chromosome abnormalities, peroxisomal disorders, lysosomal storage disorders, cholesterol synthesis defects and abnormal vitamin K metabolism, as well as maternal diseases such as severe malabsorption and exposure to teratogens. An association between CDP and maternal autoimmune disease was first observed and reported by Curry et al and Costa et al in 1993 and expanded by Chitayat et al in 2010. This review lists the clinical characteristics and radiologic findings of all cases reported to date in English and discuss the possible etiology of this interesting fetal finding.
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    文章类型: Journal Article
    在过去的几十年里,研究集中在确定前列腺癌的遗传基础上。已经认识到,与表观遗传和基因表达变化结合的许多形式的遗传变化可以增加发展前列腺癌的预测。这篇综述概述了体细胞拷贝数改变(SCNA)的作用,结构重组,点突变,和单核苷酸多态性(SNP)以及miRNA。识别相关的遗传变化提供了开发新的生物标志物的能力,以允许早期和准确检测前列腺癌,并在诊断后提供患者的风险分层。个性化或个体化医疗的概念已经获得了极大的关注。因此,更好地了解前列腺癌发生的遗传和代谢途径为探索新的治疗干预措施提供了机会,并有可能提供患者特异性的靶向治疗.
    Over the past decades, research has focussed on identifying the genetic underpinnings of prostate cancer. It has been recognized that a number of forms of genetic changes coupled with epigenetic and gene expression changes can increase the prediction to develop prostate cancer. This review outlines the role of somatic copy number alterations (SCNAs), structural rearrangements, point mutations, and single nucleotide polymorphisms (SNPs) as well as miRNAs. Identifying relevant genetic changes offers the ability to develop novel biomarkers to allow early and accurate detection of prostate cancer as well as provide risk stratification of patients following their diagnosis. The concept of personalized or individualized medicine has gained significant attention. Therefore, a better understanding of the genetic and metabolic pathways underlying prostate cancer development offers the opportunity to explore new therapeutic interventions with the possibility of offering patient-specific targeted therapy.
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