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细胞游离核酸作为妇科癌症、卵巢癌、子宫内膜癌和产科疾病及胎儿非整倍体的无创性生物标志物。

Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy.

机构信息

CHU Montpellier, Institute for Research in Biotherapy, Hôpital Saint-Eloi, INSERM U1040, Montpellier, France.

CHU Montpellier, Institute for Research in Biotherapy, Hôpital Saint-Eloi, INSERM U1040, Montpellier, France Université Montpellier 1, UFR de Médecine, Montpellier, France.

出版信息

Hum Reprod Update. 2014 Nov-Dec;20(6):905-23. doi: 10.1093/humupd/dmu031. Epub 2014 Jun 27.

DOI:10.1093/humupd/dmu031
PMID:24973359
Abstract

BACKGROUND

Proper folliculogenesis is fundamental to obtain a competent oocyte that, once fertilized, can support the acquisition of embryo developmental competence and pregnancy. MicroRNAs (miRNAs) are crucial regulators of folliculogenesis, which are expressed in the cumulus-oocyte complex and in granulosa cells and some can also be found in the bloodstream. These circulating miRNAs are intensively studied and used as diagnostic/prognostic markers of many diseases, including gynecological and pregnancy disorders. In addition, serum contains small amounts of cell-free DNA (cfDNA), presumably resulting from the release of genetic material from apoptotic/necrotic cells. The quantification of nucleic acids in serum samples could be used as a diagnostic tool for female infertility.

METHODS

An overview of the published literature on miRNAs, and particularly on the use of circulating miRNAs and cfDNA as non-invasive biomarkers of gynecological diseases, was performed (up to January 2014).

RESULTS

In the past decade, cell-free nucleic acids have been studied for potential use as biomarkers in many diseases, particularly in gynecological cancers, ovarian and endometrial disorders, as well as in pregnancy-related pathologies and fetal aneuploidy. The data strongly suggest that the concentration of cell-free nucleic acids in serum from IVF patients or in embryo culture medium could be related to the ovarian hormone status and embryo quality, respectively, and be used as a non-invasive biomarker of IVF outcome.

CONCLUSIONS

The profiling of circulating nucleic acids, such as miRNAs and cfDNA, opens new perspectives for the diagnosis/prognosis of ovarian disorders and for the prediction of IVF outcomes, namely (embryo quality and pregnancy).

摘要

背景

适当的卵泡发生对于获得具有受精能力的卵母细胞至关重要,一旦受精,卵母细胞就能支持胚胎发育能力和妊娠的获得。微小 RNA(miRNA)是卵泡发生的关键调节因子,在卵丘-卵母细胞复合物和颗粒细胞中表达,有些也可以在血液中找到。这些循环 miRNA 被深入研究,并被用作许多疾病(包括妇科和妊娠疾病)的诊断/预后标志物。此外,血清中含有少量的无细胞 DNA(cfDNA),可能是来自凋亡/坏死细胞释放的遗传物质。血清样本中核酸的定量可作为女性不孕的诊断工具。

方法

对已发表的关于 miRNA 的文献,特别是关于循环 miRNA 和 cfDNA 作为妇科疾病非侵入性生物标志物的应用进行了综述(截至 2014 年 1 月)。

结果

在过去的十年中,细胞游离核酸已被研究用于许多疾病的潜在生物标志物,特别是在妇科癌症、卵巢和子宫内膜疾病,以及与妊娠相关的病理和胎儿非整倍体。这些数据强烈表明,来自 IVF 患者的血清或胚胎培养液中细胞游离核酸的浓度可能分别与卵巢激素状态和胚胎质量有关,并可用作 IVF 结果的非侵入性生物标志物。

结论

循环核酸(如 miRNA 和 cfDNA)的分析为卵巢疾病的诊断/预后以及 IVF 结果的预测(胚胎质量和妊娠)开辟了新的前景。

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Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy.细胞游离核酸作为妇科癌症、卵巢癌、子宫内膜癌和产科疾病及胎儿非整倍体的无创性生物标志物。
Hum Reprod Update. 2014 Nov-Dec;20(6):905-23. doi: 10.1093/humupd/dmu031. Epub 2014 Jun 27.
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Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.游离核酸作为妇科疾病、胎儿非整倍体和母体染色体嵌合体的非侵入性生物标志物。
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