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The Embryology Interest Group: updating ASEBIR's morphological scoring system for early embryos, morulae and blastocysts 胚胎学兴趣小组:更新ASEBIR早期胚胎、桑葚胚和囊胚的形态学评分系统
Pub Date : 2018-01-01 DOI: 10.1016/j.medre.2017.11.002
Irene Cuevas Saiz , Maria Carme Pons Gatell , Muriel Cuadros Vargas , Arantzazu Delgado Mendive , Natalia Rives Enedáguila , Marta Moragas Solanes , Beatriz Carrasco Canal , José Teruel López , Ana Busquets Bonet , Mª Victoria Hurtado de Mendoza Acosta

The Embryology Interest Group of the Association for the Study of Reproductive Biology has established a system of embryo scoring based on the bibliography published to date and the experience of the members of the group. This article sets out the morphological characteristics evaluated at each stage, as well as updating previous editions, from oocyte to blastocyst, and their influence on the potential for embryo development and implantation. Four categories are proposed with the purpose of standardising criteria and making it easier to run multicentre studies.

生殖生物学研究协会的胚胎学兴趣小组根据迄今为止出版的参考书目和小组成员的经验建立了一个胚胎评分系统。本文阐述了从卵母细胞到囊胚各阶段的形态特征及其对胚胎发育和着床潜力的影响,并更新了以前的版本。提出了四个类别,目的是使标准标准化,并使多中心研究更容易进行。
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引用次数: 33
Buenas prácticas en el asesoramiento anticonceptivo a mujeres: recomendaciones del grupo de Expertos Multidisciplinar en Materia Anticonceptiva (EMMA) 妇女避孕咨询的良好做法:多学科避孕专家小组(EMMA)的建议
Pub Date : 2018-01-01 DOI: 10.1016/j.medre.2017.12.002
Pilar Costillas-Caño , Ignacio Cristóbal-García , Gemma Falguera-Puig , Ana Rosa Jurado-López , Paloma Lobo-Abascal , Antonia María Obiol-Saiz , Joaquim Calaf-Alsina

Contraception allows women to avoid unplanned pregnancies. Not only should access to contraceptive methods be readily available to women, it is also important that they use the most appropriate birth control method that suits their needs and lifestyle in order to ensure proper use and continuity. This highlights the importance of contraceptive counselling, a practice that should be an integral part of the care of childbearing-age women. This document, prepared by a panel of experts representing the main healthcare professions involved in the provision of contraceptive advice in our country, describes the elements needed to offer women quality contraceptive advice using a multidisciplinary approach adapted to the specific individual needs. It includes relevant aspects, such as which women and at what time should contraceptive counselling be provided. The skills required for this counselling and the environment where contraceptive counselling should be provided, and the essential components it should cover are also included.

避孕可以使妇女避免意外怀孕。妇女不仅应该随时获得避孕方法,而且重要的是,她们应使用适合其需要和生活方式的最适当的节育方法,以确保适当使用和连续性。这突出了避孕咨询的重要性,这种做法应成为育龄妇女护理的一个组成部分。这份文件是由代表我国提供避孕咨询的主要保健专业的专家小组编写的,描述了采用适应具体个人需求的多学科方法向妇女提供高质量避孕咨询所需的要素。它包括有关方面,例如应向哪些妇女和在什么时候提供避孕咨询。还包括这种咨询所需的技能和提供避孕咨询的环境,以及咨询应包括的基本内容。
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引用次数: 1
Estudio «in vitro» de la influencia de la osmolaridad del plasma seminal en la morfología del espermatozoide 精浆渗透压对精子形态影响的体外研究
Pub Date : 2018-01-01 DOI: 10.1016/j.medre.2017.10.001
Guillermo Tarrasó, Sílvia Bérgamo, Clara Ramírez, Pilar Felipe, Pilar Planells, Carlos Aulesa

Introduction

Sperm morphology is a parameter closely related to the fertility of the male gamete. Various infertility-causing disorders have been associated with anomalous sperm sub-populations that may be accompanied by an altered osmolality. A pilot study was conducted to determine whether the increase or decrease in in vitro osmolality can alter the original morphology.

Material and methods

The study included 42 randomly selected patients who had been classified as normal according to WHO criteria. The samples were processed by a CASA - SCA 5.4 (Sperm Class Analyzer) (Microptic S.L, Barcelona, Spain). Seminal plasma osmolality was measured using an Advanced Osmometer 2020 3MO.

Results

The in vitro assays carried out on 30 patients showed that an osmolality increase up two times the reference value (880mOsm/kg), caused a progressive loss of sperm viability and a significant increase in macrocephalic sperm heads, with an increase in sperm volume and area. An osmolality decrease (half of the reference value, 228 mOsmol/kg) in a sample of 12 patients had no effect on sperm viability, although the sperm sub-population study showed increased micro-cephalic sperm with lower volume and cephalic area.

Discussion

Sperm morphology is acquired by sperm during the epididymal maturation. It was found that changing in vitro seminal plasma osmolality did not seem to affect it. Only extremely high values of osmolality cause the formation of macrocephalic sperm heads and a progressive loss of viability. These in vitro assays can help us to understand the biochemical seminal plasma effect in the male gamete.

精子形态是与雄性配子的生育能力密切相关的一个参数。各种不孕症引起的疾病都与异常精子亚群有关,这可能伴随着渗透压的改变。进行了一项初步研究,以确定体外渗透压的增加或减少是否会改变原始形态。材料与方法本研究随机选取42例按who标准归类为正常的患者。样品经CASA - SCA 5.4(精子类分析仪)(Microptic S.L, Barcelona, Spain)处理。精浆渗透压采用Advanced Osmometer 2020 3MO测量。结果对30例患者进行体外实验,渗透压升高至参考值(880mOsm/kg)的2倍,导致精子活力逐渐丧失,大头精子头数显著增加,精子体积和面积增加。在12例患者样本中,渗透压降低(参考值的一半,228 mOsmol/kg)对精子活力没有影响,尽管精子亚群研究显示小头侧精子增加,体积和头侧面积减少。精子形态是在附睾成熟过程中由精子获得的。结果发现,改变体外精浆渗透压似乎对其没有影响。只有非常高的渗透压值才会导致大头精子头的形成和生存能力的逐渐丧失。这些体外实验可以帮助我们了解雄性配子的生化精浆效应。
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引用次数: 0
Análisis modal de fallos y efectos en la fase pretécnica del Laboratorio de Reproducción 生殖实验室技术前阶段的失效模态分析和影响
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.07.001
Irene Molina , M. Carmen Gonzalvo , Ana Clavero , M. Luisa López-Regalado , Luis Martínez-Granados , Purificación Navas-Bastida , Juan Mozas , Luis Martínez-Navarro , Juan Fontes , Bárbara Romero , Isabel Rodriguez , José Antonio Castilla

Introduction

In clinical laboratory processes, the greatest number of errors usually occur in the non-technical phases, performed before and after the technical process. Failure modes and effects analysis (FMEA) is a method for managing potential failures and identifying their effects so that preventive and remedial measures may be proposed. This paper describes a FMEA conducted on the pre-technical phase of work in an assisted reproduction laboratory.

Material and methods

A multidisciplinary team drew up a list of possible failures in the activities involved in the pre-technical phase (request, preparation of the patient, collection, manipulation, identification, and transport). These items were evaluated by 17 staff members and users of the assisted reproduction laboratory to determine the potential impact on patient care of each such failure. Indices of severity, probability of occurrence, detection, and overall risk were calculated for each possible failure.

Results

The possible failures with the highest risk indices were, for the analysis function, illegible request and incorrect manipulation in the use of resources and/or techniques. For the areas of cell and tissue processing and of cryopreservation, the possible failures that obtained the highest overall risk score were errors in the administration of drugs and the request being incomplete and/or made at an inappropriate time. The largest number of possible failures were found in the activities concerning sample collection and manipulation. Twelve evaluation indicators were defined.

Discussion

This study highlights the existence of latent system failures, which may become inherent to the procedures and provoke errors, hence the importance of continuing to monitor the proposed indicators to measure results over a longer period and to evaluate the effect of the actions taken.

在临床实验室流程中,最多的错误通常发生在非技术阶段,在技术流程之前和之后进行。失效模式和影响分析(FMEA)是一种管理潜在故障并识别其影响的方法,以便提出预防和补救措施。本文描述了在辅助生殖实验室的技术前阶段工作中进行的FMEA。材料和方法一个多学科小组列出了技术前阶段(请求、病人准备、收集、操作、鉴定和运输)中可能出现的故障。辅助生殖实验室的17名工作人员和用户对这些项目进行了评估,以确定每项此类失败对患者护理的潜在影响。计算每种可能故障的严重程度、发生概率、检测和总体风险指数。结果可能出现的风险指标最高的是分析功能、请求不清、资源和/或技术使用操作不当。对于细胞和组织处理以及低温保存领域,获得最高总体风险评分的可能失败是药物管理错误,请求不完整和/或在不适当的时间提出。在样品收集和操作活动中发现的可能失败最多。确定了12个评价指标。本研究强调了潜在系统故障的存在,这些故障可能成为程序固有的并引发错误,因此继续监测拟议指标以在较长时间内测量结果并评估所采取行动的效果的重要性。
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引用次数: 1
Estudio del volumen y la vascularización trofoblástica mediante power doppler tridimensional en la novena semana en gestaciones espontáneas y tras técnicas de reproducción asistida 自然妊娠9周及辅助生殖技术后三维功率多普勒滋养细胞体积及血管化研究
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.06.001
Francisco Sellers , Belén Moliner , Ana Palacios , Rafael Sellers , Joaquín Llácer , Rafael Bernabeu

Objective

To determine whether there are differences in the volume and trophoblastic vascularisation at early stages of pregnancy between spontaneous pregnancies and those achieved after assisted reproduction techniques.

Methods

A prospective observational study was performed during week 9 of single pregnancies, using a trans-vaginal 3-dimensional ultrasound scan using power Doppler. The acquired volumes were analysed using the image program VOCAL –Virtual Organ Computer-Aided Analysis–, to evaluate the volume of the placenta, the vascularisation index, the flow index, and the vascularisation flow index.

Results

Of the 59 pregnant women included in the study, 32 had fertility treatments, and 27 were spontaneous pregnancies. In a comparative analysis, all the factors studied showed statistically significant differences. The measurements of these values for the assisted reproduction techniques group were significantly lower.

Conclusions

The study of the volumetric and trophoblastic vascularisation could be useful for understanding and preventing the most common placenta disorders in the assisted reproduction technique pregnancies, and it would explain some adverse prenatal outcomes in those pregnancies.

目的探讨自然妊娠与辅助生殖技术后妊娠早期滋养层血管形成的差异。方法采用功率多普勒经阴道三维超声扫描,在单胎妊娠第9周进行前瞻性观察研究。使用图像程序VOCAL -虚拟器官计算机辅助分析-分析获得的体积,以评估胎盘的体积,血管指数,血流指数和血管流量指数。结果在纳入研究的59名孕妇中,32名接受了生育治疗,27名是自然怀孕。在比较分析中,所有研究的因素都显示出统计学上的显著差异。辅助生殖技术组的这些测量值明显较低。结论体积和滋养层血管的研究有助于了解和预防辅助生殖技术妊娠中最常见的胎盘疾病,并有助于解释这些妊娠中一些不良的产前结局。
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引用次数: 0
Registro FIV/ICSI de la Sociedad Española de Fertilidad de los años 2012 y 2013 2012年和2013年西班牙生育学会试管婴儿/ICSI注册
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.07.002
Sandra Zamora , Luis Martínez-Granados , Montserrat de Andrés , Ester Vidal , Juana Hernández , María José de los Santos , Julio Herrero , Yolanda Cabello , Fernando Prados , Rosario Buxaderas , Ana Segura , Irene Cuevas , Isabel Pons , Maika García , José Antonio Castilla

Introduction

This report shows the IVF/ICSI Registry activity of the Spanish Society of Fertility during 2012 and 2013.

Material and methods

Descriptive study of the data registered from 113 Spanish clinics during 2012, and 130 during 2013. An analysis was performed on IVF/ICSI cycles with own eggs (35,430 in 2012, and 38,591 in 2013), IVF/ICSI cycles from egg donation (7,605 in 2012 and 8,320 in 2013), frozen embryo replacement cycles (11,736 in 2012 and 14,255 in 2013), pre-implantation genetic diagnosis/screening cycles (2,744 in 2012 and 2,890 in 2013), and cryopreserved oocytes cycles (6,452 in 2012 and 8,056 in 2013).

Results

A total of 9,750 clinical pregnancies were reported in 2012 with IVF and own eggs treatment, and 9,775 in 2013 (37.9% and 37.3% pregnancy rate per embryo transfer, respectively), leading to 23.9% of multiple pregnancies in 2012 and 22.9% in 2013. By egg donation cycles, 4,569 pregnancies were obtained (53.3%) from a total of 8,571 fresh embryo transfers in 2012, and 4,607 (55.9%) from 8.238 in 2013, leading to 31,1% of multiple pregnancies in 2012 and 30,1% in 2013. In 2012, 568 (20.7%) pregnancies were obtained from 2,744 egg collections for PGD treatment, and 484 (16.7%) from 2,890 in 2013. The number of cycles performed with vitrified own eggs was 1,949 in 2012 and 2,899 in 2013.

Conclusions

Multiple pregnancy rates are still high. The data shows a significant increase of the number of cycles with cryopreserved oocytes. A high percentage of pregnancies are unknown, lacking data on their follow-up.

本报告显示了2012年和2013年西班牙生育学会的试管婴儿/ICSI登记活动。材料和方法对2012年113家西班牙诊所和2013年130家西班牙诊所登记的数据进行描述性研究。对使用自有卵子的IVF/ICSI周期(2012年为35430个,2013年为38591个)、卵子捐赠的IVF/ICSI周期(2012年为7605个,2013年为8320个)、冷冻胚胎置换周期(2012年为11736个,2013年为14255个)、植入前遗传学诊断/筛查周期(2012年为2744个,2013年为2890个)和冷冻保存的卵母细胞周期(2012年为6452个,2013年为8056个)进行了分析。结果2012年共报告9750例临床妊娠,2013年报告9775例(单胚胎移植妊娠率分别为37.9%和37.3%),2012年和2013年分别占多胎妊娠的23.9%和22.9%。通过卵子捐赠周期,2012年8571例新鲜胚胎移植获得4569例妊娠(53.3%),2013年8.238例获得4607例妊娠(55.9%),2012年多胎妊娠占31.1%,2013年多胎妊娠占30.1%。2012年,从2,744枚收集的卵子中获得568枚(20.7%)妊娠,用于PGD治疗,2013年从2,890枚收集的卵子中获得484枚(16.7%)妊娠。2012年使用玻璃化卵子进行的循环次数为1949次,2013年为2899次。结论多胎妊娠率仍较高。数据显示冷冻保存卵母细胞的周期数量显著增加。由于缺乏随访数据,很大比例的怀孕是未知的。
{"title":"Registro FIV/ICSI de la Sociedad Española de Fertilidad de los años 2012 y 2013","authors":"Sandra Zamora ,&nbsp;Luis Martínez-Granados ,&nbsp;Montserrat de Andrés ,&nbsp;Ester Vidal ,&nbsp;Juana Hernández ,&nbsp;María José de los Santos ,&nbsp;Julio Herrero ,&nbsp;Yolanda Cabello ,&nbsp;Fernando Prados ,&nbsp;Rosario Buxaderas ,&nbsp;Ana Segura ,&nbsp;Irene Cuevas ,&nbsp;Isabel Pons ,&nbsp;Maika García ,&nbsp;José Antonio Castilla","doi":"10.1016/j.medre.2017.07.002","DOIUrl":"10.1016/j.medre.2017.07.002","url":null,"abstract":"<div><h3>Introduction</h3><p>This report shows the IVF/ICSI Registry activity of the Spanish Society of Fertility during 2012 and 2013.</p></div><div><h3>Material and methods</h3><p>Descriptive study of the data registered from 113 Spanish clinics during 2012, and 130 during 2013. An analysis was performed on IVF/ICSI cycles with own eggs (35,430 in 2012, and 38,591 in 2013), IVF/ICSI cycles from egg donation (7,605 in 2012 and 8,320 in 2013), frozen embryo replacement cycles (11,736 in 2012 and 14,255 in 2013), pre-implantation genetic diagnosis/screening cycles (2,744 in 2012 and 2,890 in 2013), and cryopreserved oocytes cycles (6,452 in 2012 and 8,056 in 2013).</p></div><div><h3>Results</h3><p>A total of 9,750 clinical pregnancies were reported in 2012 with IVF and own eggs treatment, and 9,775 in 2013 (37.9% and 37.3% pregnancy rate per embryo transfer, respectively), leading to 23.9% of multiple pregnancies in 2012 and 22.9% in 2013. By egg donation cycles, 4,569 pregnancies were obtained (53.3%) from a total of 8,571 fresh embryo transfers in 2012, and 4,607 (55.9%) from 8.238 in 2013, leading to 31,1% of multiple pregnancies in 2012 and 30,1% in 2013. In 2012, 568 (20.7%) pregnancies were obtained from 2,744 egg collections for PGD treatment, and 484 (16.7%) from 2,890 in 2013. The number of cycles performed with vitrified own eggs was 1,949 in 2012 and 2,899 in 2013.</p></div><div><h3>Conclusions</h3><p>Multiple pregnancy rates are still high. The data shows a significant increase of the number of cycles with cryopreserved oocytes. A high percentage of pregnancies are unknown, lacking data on their follow-up.</p></div>","PeriodicalId":100911,"journal":{"name":"Medicina Reproductiva y Embriología Clínica","volume":"4 3","pages":"Pages 143-153"},"PeriodicalIF":0.0,"publicationDate":"2017-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.medre.2017.07.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79261967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Indicadores de calidad del laboratorio de reproducción: Manual de Buena Práctica Clínica de la SEF versus Grupo de Interés de Calidad de ASEBIR 生殖实验室质量指标:SEF与ASEBIR质量利益集团良好临床实践手册
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.06.002
Miriam Iglesias , M. Carmen Gonzalvo , Ana Clavero , M. Luisa López-Regalado , José Muñoz , Luis Martínez-Granados , Purificación Navas-Bastida , Nereida Ortiz , José A. Castilla , Grupo Interés de calidad de ASEBIR

Since the use of assisted reproduction techniques became routine, needs have changed in the quest to optimise laboratory results, and the establishment of quality indicators and standards is now of fundamental importance. For this reason, various reference texts have been published in 2016, such as the Embryology Laboratory Indicator Quality Guidelines issued by the ASEBIR Quality Interest Group (GICa-ASEBIR) and, more recently, the Handbook of Good Clinical Practice in Assisted Reproduction issued by the SEF Ethics and Good Practices interest group (MBP-SEF). We believe it would be useful to scrutinise these indicators and determine which ones are common to the two documents. To do so, we have classified the indicators according to two variables. Firstly, by type (effectiveness and safety) and secondly, by degree of coincidence: similar (present in both documents and similarly defined); discrepant (present in both documents but with discordant definitions); and unique (only described in one of the two documents). Our analysis of the two texts shows that eight indicators of effectiveness are similar and three are discrepant. In addition, one safety indicator was found to be discrepant, two indicators were unique to the GICa-ASEBIR document and five were unique to the MBP-SEF. These results highlight the presence of significant differences in the quality indicators proposed and the need, in our opinion, for greater standardisation.

由于辅助生殖技术的使用已成为常规,在寻求优化实验室结果方面的需求已发生变化,现在建立质量指标和标准具有根本重要性。因此,2016年出版了各种参考文献,例如ASEBIR质量兴趣小组(GICa-ASEBIR)发布的胚胎学实验室指标质量指南,以及最近由SEF伦理与良好实践兴趣小组(MBP-SEF)发布的《辅助生殖良好临床实践手册》。我们认为,仔细审查这些指标并确定哪些是这两份文件的共同指标将是有益的。为此,我们根据两个变量对指标进行了分类。首先,按类型(有效性和安全性),其次,按巧合程度:相似(在两份文件中都存在,定义相似);不一致(两份文件均有,但定义不一致);并且是唯一的(仅在两个文档中的一个中描述)。我们对两个文本的分析表明,8个有效性指标是相似的,3个是不同的。此外,发现1个安全指标存在差异,2个指标为GICa-ASEBIR文件独有,5个指标为MBP-SEF独有。这些结果突出了所提出的质量指标存在显著差异,我们认为有必要进行更大程度的标准化。
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引用次数: 0
Registro de inseminación artificial de la Sociedad Española de Fertilidad de los años 2012 y 2013 2012年和2013年西班牙生育学会人工授精登记
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.09.004
Fernando Prados , Irene Cuevas , Ester Vidal , Montserrat de Andrés , Juana Hernández , Sandra Zamora , Luis Martínez-Granados , María José de los Santos , Julio Herrero , Yolanda Cabello , Rosario Buxaderas , Ana Segura , Isabel Pons , Maika García , José Antonio Castilla

Introduction

The indications for intrauterine insemination using the partner's sperm (IUI-H) are currently the subject of debate. To follow the progress of the implantation and efficacy in daily practice is key to defining its current role within the human assisted reproduction techniques.

Material and methods

This descriptive study presents data from the IUI-H and intrauterine insemination by donor sperm (IUI-D) Register compiled by the Spanish Fertility Society (SEF) from the years 2012 and 2013. These data were compared with those of the previous 6 years. The SEF register is voluntary and collects data aggregated per clinic, monitoring more than 20% of these clinics in situ. Less than half (42.4%) of the clinics registered with the Spanish Health Ministry participated in the 2012 SEF registers, with 50.3% in 2013. A total of 28,596 cycles were analysed during 2012 (21,561 IUI-H cycles and 7,035 IUI-D cycles), with 29,550 being analysed during 2013 (22,025 IUI-H cycles and 7,525 IUI-D cycles).

Results

The overall pregnancy rates per cycle were similar to those obtained during previous years for IUI-H (2012: 12.4%; 2013: 12.6%) and for IUI-D (2012: 20.1%; 2013: 21%). In 2012 11.3% (303) were multiple pregnancies with IUI-H and 11.6% in 2013. The IUI-D multiple pregnancy rate was 13.2% in 2012 and 11.5% in 2013. Miscarriages occurred in 22% of the IUI-H pregnancies with a known outcome in 2012, and in 20.9% of the 2013 pregnancies. With IUI-D these values were 22.7% in 2012 and 21.8% in 2013.

Conclusions

IUI is a fully consolidated technique, with stable results in recent years, although this technique results in high number of multiple pregnancies in our country.

使用伴侣精子进行宫内人工授精(IUI-H)的适应症目前是争论的主题。在日常实践中跟踪植入的进展和效果是确定其在人类辅助生殖技术中当前地位的关键。材料和方法本描述性研究提供了2012年和2013年西班牙生育协会(SEF)汇编的IUI-H和宫内人工授精(IUI-D)登记册的数据。这些数据与前6年的数据进行了比较。SEF登记是自愿的,收集每个诊所的汇总数据,就地监测20%以上的诊所。在西班牙卫生部注册的诊所中,不到一半(42.4%)参加了2012年SEF登记,2013年为50.3%。2012年共分析了28,596个周期(21,561个IUI-H周期和7,035个IUI-D周期),2013年分析了29,550个周期(22025个IUI-H周期和7,525个IUI-D周期)。结果每个周期的总妊娠率与前几年IUI-H的妊娠率相似(2012年:12.4%;2013年:12.6%)和IUI-D(2012年:20.1%;2013年:21%)。2012年11.3%(303例)为多胎妊娠合并宫内人工授精,2013年为11.6%。2012年IUI-D多胎妊娠率为13.2%,2013年为11.5%。2012年已知结局的IUI-H妊娠中有22%发生流产,2013年这一比例为20.9%。IUI-D分别为2012年和2013年的22.7%和21.8%。结论siui技术是一种完全巩固的技术,近年来效果稳定,但在我国造成了大量的多胎妊娠。
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引用次数: 4
Cribado ampliado de portadores en un programa de donación de ovocitos: Implementación de un nuevo test y resultados tras dos años de experiencia 卵母细胞捐赠计划中扩大携带者筛查:在两年的经验后实施新的检测和结果
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.09.001
Anna Abulí , Laura Latre , Montserrat Boada , Gabriela Palacios-Verdú , Elisabet Clua , Benjamín Rodríguez-Santiago , Lluís Armengol , Anna Veiga , Buenaventura Coroleu , Xavier Estivill , Pedro N. Barri

The present study describes the implementation of a carrier screening test for autosomal recessive and X-linked diseases in an Oocyte Donation Programme (donors and male partners of the recipients). The Next-Generation Sequencing (NGS) based test covered 200 genes (68 genes by complete sequencing of the coding region and 132 sequenced by a targeted mutation analysis) associated with 314 diseases (277 recessive autosomal diseases and 22 X-linked). The results obtained after 2.5 years showed a high degree of acceptance (implementation rate > 80%). Among participants, 56.4% (761/1350) were identified as carriers of at least one gene mutation. It was also identified that 1.9% of donor candidates were carriers of X-linked diseases, and for this reason were excluded from the Oocyte Donation programme. The mean carrier burden was 0.84 mutations per sample. There were 3.4% of preassigned donor-recipient matches with a high reproductive risk for transmitting a severe autosomal-recessive genetic condition to their offspring (cystic fibrosis, classical congenital adrenal hyperplasia, autosomal-recessive non-syndromic sensorineural deafness, alpha thalassemia, familial Mediterranean fever, Niemann-Pick disease, thyroid dyshormogenesis type 6 and cartilage-hair hypoplasia). The definitive matching was made taking into account the genetic results. A carrier state for an autosomal recessive condition was not an exclusion criterion for the Oocyte Donation programme, although it implied the assignation of the donor to a recipient whose male partner was not a carrier for the same recessive condition. Genetic counselling at different stages of the clinical process was essential in order to achieve the purposes of decreasing anxiety in the gamete donors and recipient couples, to achieve a high understanding of the results, and to give appropriate recommendations about their own reproductive risk or that of their relatives, when necessary.

本研究描述了在卵母细胞捐赠计划(捐赠者和接受者的男性伴侣)中实施常染色体隐性遗传和x连锁疾病的携带者筛查试验。基于下一代测序(NGS)的检测涵盖了与314种疾病(277种隐性常染色体疾病和22种x连锁疾病)相关的200个基因(68个基因通过编码区完全测序,132个基因通过靶向突变分析测序)。2.5年后取得的结果显示,接受度(执行率>80%)。在参与者中,56.4%(761/1350)被鉴定为至少一种基因突变的携带者。我们还发现,有1.9%的候选供体是x连锁疾病的携带者,因此被排除在卵母细胞捐赠计划之外。每个样本的平均携带负荷为0.84个突变。有3.4%的预配供体-受体配型具有将严重常染色体-隐性遗传病(囊性纤维化、典型先天性肾上腺增生、常染色体-隐性非综合征感音神经性耳聋、α型地中海贫血、家族性地中海热、尼曼-匹克病、6型甲状腺发育不良和软骨毛发育不全)遗传给后代的高生殖风险。考虑到遗传结果,进行了最终的匹配。常染色体隐性遗传病的携带者状态不是卵母细胞捐赠计划的排除标准,尽管它意味着将供体分配给其男性伴侣不携带相同隐性遗传病的受体。在临床过程的不同阶段进行遗传咨询是必不可少的,以便达到减少配子捐赠者和接受者夫妇的焦虑,对结果有高度的了解,并在必要时就他们自己或其亲属的生殖风险提出适当的建议。
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引用次数: 2
La selección espermática mediante técnica de separación magnética de células activadas (MACS) en las técnicas de reproducción asistida 利用活化细胞磁选技术(MACS)在辅助生殖技术中的精子选择
Pub Date : 2017-09-01 DOI: 10.1016/j.medre.2017.06.004
Yamileth Motato-Moscoso, Ana Ortega-García, Marita Espejo-Catena

The sperm integrity is essential to ensure reproductive competence. Several studies have shown that ejaculated sperm exhibit changes associated with apoptosis, in particular externalisation of phosphatidylserine, decreased MMP integrity, and DNA fragmentation.

The classification of magnetically activated cells with Annexin V microspheres recognises phosphatidylserine residues externalised on the surface of apoptotic spermatozoa. In addition, the use of Annexin V microspheres to select non-apoptotic spermatozoa reduces the percentage of altered cells with DNA fragmentation and aneuploidy, improving the possibility of pregnancy after assisted reproduction techniques.

In this review, our objective is to evaluate the possible value of activated cell magnetic classification technology in infertile patients undergoing assisted reproduction techniques.

精子的完整性对确保生殖能力至关重要。一些研究表明,射精精子表现出与细胞凋亡相关的变化,特别是磷脂酰丝氨酸的外化、MMP完整性降低和DNA断裂。具有膜联蛋白V微球的磁活化细胞的分类识别了凋亡精子表面外化的磷脂酰丝氨酸残基。此外,使用膜联蛋白V微球选择非凋亡精子减少了DNA片段化和非整倍体改变细胞的百分比,提高了辅助生殖技术后怀孕的可能性。在这篇综述中,我们的目的是评估激活细胞磁分类技术在接受辅助生殖技术的不孕症患者中的可能价值。
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Medicina Reproductiva y Embriología Clínica
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