Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy.
Cell-free nucleic acids as non-invasive biomarkers of gynecological cancers, ovarian, endometrial and obstetric disorders and fetal aneuploidy.
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DOI：
10.1093/humupd/dmu031
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发表时间：
2014-11
影响因子：
13.3
通讯作者：
Sabine Traver;S. Assou;S. Assou;E. Scalici;E. Scalici;D. Haouzi;T. Al-Edani;T. Al-Edani;S. Belloc;S. Hamamah;S. Hamamah
中科院分区：
文献类型：
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作者：
Sabine Traver;S. Assou;S. Assou;E. Scalici;E. Scalici;D. Haouzi;T. Al-Edani;T. Al-Edani;S. Belloc;S. Hamamah;S. Hamamah
适当的卵泡发生是获得一个有能力的卵母细胞的基础，一旦受精，可以支持胚胎发育能力的获得和妊娠。microRNAs（miRNAs）是卵泡发生的重要调控因子，在卵丘-卵母细胞复合体和颗粒细胞中表达，有些也存在于血流中。这些循环miRNA被深入研究并用作许多疾病的诊断/预后标志物，包括妇科和妊娠疾病。此外，血清含有少量的无细胞DNA（cfDNA），推测是由凋亡/坏死细胞释放遗传物质引起的。血清中核酸的定量可作为女性不孕症的诊断工具。方法对已发表的关于miRNAs的文献进行综述，特别是关于循环miRNAs和cfDNA作为妇科疾病的非侵入性生物标志物的使用的文献（截至2014年1月）。结果在过去的十年中，无细胞核酸已被研究作为生物标志物在许多疾病，特别是在妇科癌症，卵巢和子宫内膜疾病，以及在妊娠相关的病理和胎儿非整倍体的潜在用途。这些数据强烈表明，IVF患者血清或胚胎培养液中的无细胞核酸浓度可能分别与卵巢激素状态和胚胎质量相关，并可用作IVF结局的非侵入性生物标志物。循环核酸（如miRNA和cfDNA）的分析为卵巢疾病的诊断/预后和IVF结局（即胚胎质量和妊娠）的预测开辟了新的视角。
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).