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The necessity to define the sub-optimal responders.定义次优反应者的必要性。
Hum Reprod. 2015 Dec;30(12):2958. doi: 10.1093/humrep/dev254. Epub 2015 Oct 21.
2
Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene.在脆性X智力低下1(FMR1)基因上CGG重复序列高正常的不孕患者中未观察到卵巢储备减少。
Hum Reprod. 2015 Nov;30(11):2686-92. doi: 10.1093/humrep/dev220. Epub 2015 Sep 6.
3
Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles.年轻女性中 FMR1 基因低等位基因(CGGn < 26)与卵巢功能储备早期下降相关。
Transl Res. 2015 Nov;166(5):502-7.e1-2. doi: 10.1016/j.trsl.2015.06.014. Epub 2015 Jul 6.
4
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.脆性X相关疾病中FMR1基因的重复介导的表观遗传失调。
Front Genet. 2015 Jun 3;6:192. doi: 10.3389/fgene.2015.00192. eCollection 2015.
5
Prospectively assessing risk for premature ovarian senescence in young females: a new paradigm.前瞻性评估年轻女性卵巢早衰风险:一种新范式。
Reprod Biol Endocrinol. 2015 Apr 18;13:34. doi: 10.1186/s12958-015-0026-z.
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Fragile X spectrum disorders.脆性X染色体谱系障碍
Intractable Rare Dis Res. 2014 Nov;3(4):134-46. doi: 10.5582/irdr.2014.01022.
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How the FMR1 gene became relevant to female fertility and reproductive medicine.脆性 X 智力低下 1 基因如何与女性生育力和生殖医学相关。
Front Genet. 2014 Aug 29;5:284. doi: 10.3389/fgene.2014.00284. eCollection 2014.
8
Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization.利用FMR1基因突变作为人类体外受精治疗成功的预测指标。
PLoS One. 2014 Jul 14;9(7):e102274. doi: 10.1371/journal.pone.0102274. eCollection 2014.
9
The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.脆性 X 智力低下基因 1 CGG 重复大小在原发性卵巢功能不全女性正常和中等范围内的意义。
Hum Reprod. 2014 Jul;29(7):1585-93. doi: 10.1093/humrep/deu095. Epub 2014 May 7.
10
Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.脆性X智力低下基因1(FMR1)位点的中等长度CGG重复序列与卵巢年龄的激素指标无关。
Menopause. 2014 Jul;21(7):740-8. doi: 10.1097/GME.0000000000000139.

脆性X智力低下基因1(FMR1)的CGG重复序列长度能否预测体外受精的促排卵反应或结局?

Is FMR1 CGG repeat length a predictor of in vitro fertilization stimulation response or outcome?

作者信息

Banks Nicole, Patounakis George, Devine Kate, DeCherney Alan H, Widra Eric, Levens Eric D, Whitcomb Brian W, Hill Micah J

机构信息

Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland; Shady Grove Fertility Science Center, Rockville, Maryland.

出版信息

Fertil Steril. 2016 Jun;105(6):1537-1546.e8. doi: 10.1016/j.fertnstert.2016.02.011. Epub 2016 Mar 21.

DOI:10.1016/j.fertnstert.2016.02.011
PMID:26940792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6548191/
Abstract

OBJECTIVE

To study a broad range of FMR1 CGG repeat lengths and assisted reproduction technology (ART) outcomes.

DESIGN

Retrospective cohort study.

SETTING

Private ART practice.

PATIENT(S): Fresh autologous ART stimulation cycles.

INTERVENTION(S): None.

MAIN OUTCOME MEASURE(S): Oocyte yield, live birth.

RESULT(S): We screened 14,088 fresh autologous ART cycles from 2012 to 2015, of which 4,690 cycles in 3,290 patients met the inclusion criteria. The FMR1 repeat length was statistically significantly but weakly associated with oocyte yield and other markers of ovarian response. The receiver operating characteristic curve analysis suggested extremely limited predictive ability. Moreover, the FMR1 repeat length was not statistically significantly associated with outcomes in multivariable models, including other markers of ovarian reserve. The FMR1 repeat length was not associated with embryo quality or live birth. Only patient age had a strong ability to predict live birth.

CONCLUSION(S): The FMR1 repeat length is associated with ART response, but only weakly. It provides no incremental predictive ability beyond the conventionally used predictors, including patient age, antimüllerian hormone concentration, antral follicle count, and follicle-stimulating hormone level. These data suggest a possible role of the FMR1 repeat length within the normal range in ovarian response but demonstrate no clinically relevant indication for testing FMR1 as a predictor of ART outcomes.

摘要

目的

研究广泛的脆性X智力低下基因1(FMR1)CGG重复序列长度与辅助生殖技术(ART)结局。

设计

回顾性队列研究。

地点

私立ART诊所。

患者

新鲜自体ART刺激周期。

干预措施

无。

主要观察指标

卵母细胞产量、活产。

结果

我们筛选了2012年至2015年的14,088个新鲜自体ART周期,其中3,290例患者的4,690个周期符合纳入标准。FMR1重复序列长度与卵母细胞产量及卵巢反应的其他指标在统计学上有显著关联,但关联较弱。受试者工作特征曲线分析表明预测能力极其有限。此外,在多变量模型中,包括卵巢储备的其他指标,FMR1重复序列长度与结局无统计学显著关联。FMR1重复序列长度与胚胎质量或活产无关。只有患者年龄有很强的预测活产的能力。

结论

FMR1重复序列长度与ART反应有关,但关联较弱。它在传统使用的预测指标(包括患者年龄、抗苗勒管激素浓度、窦卵泡计数和促卵泡激素水平)之外,没有额外的预测能力。这些数据表明FMR1重复序列长度在正常范围内可能在卵巢反应中起作用,但没有显示出检测FMR1作为ART结局预测指标的临床相关指征。