遗传因素与反复流产

反复流产一般指一对夫妇发生两次或两次以上流产。引起流产的遗传因素包括染色体异常、单基因突变以及多因子遗传。在头３个月的流产胚胎中,５０％以上显示出染色体异常,但对流产的遗传因素的估计显然过低。随着分子生物学技术的发展,一些不能通过细胞学方法检出的微小...     

不良孕产史的再生育咨询

<正>不良孕产史是指发生过孕期流产、死胎死产、出生缺陷、新生儿或婴儿死亡以及先天发育相关疾病的生育史。国内外文献报道不良孕产史夫妇再次孕育不健康胚胎/胎儿的风险较普通群体显著升高^[1,2],部分遗传因素相关的不良妊娠史夫妇家族成员发病风险也相应升高。不良孕产史夫妇及其家族成员再生育咨询，有助于确定孕前及孕期不良妊娠风险暴露的干预方案，制订科学的备孕及孕期管理计划，有效降低不良孕产再发风险。     

3405例产前诊断的指证及其结果评价

目的:分析产前诊断指证与胎儿染色体检测结果的关系。方法:3405例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析。结果:3405例孕妇共检出胎儿染色体异常88例,染色体异常率为2.6%,显著高于一般人群的异常率(P<0.01)。其中夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达25.9%(7/27),产前胎儿超声异常标记组、孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为6.2%(49/778)、1.7%(22/1283)和1.1%(7/664)。18-或21-三体儿妊娠史组、体外受精组、本次妊娠有先兆流产史组和孕期不良因素接触组,均未检出胎儿染色体异常。结论:出现胎儿染色体异常率最高的指证,依次为夫妇一方染色体平衡易位携带者、产前超声发现胎儿异常标记、孕母血清唐氏筛查阳性和高龄孕妇。有针对性地进行产前诊断,可有效地控制和减少出生缺陷的发生。     

表遗传重建和辅助生育技术的风险

表遗传是指在DNA遗传编码序列不变的情况下,通过对DNA或相关蛋白质分子的修饰而引起细胞功能改变的现象,有其特殊的遗传方式。在哺乳动物和人类中,配子与着床前的胚胎这2个发育阶段经历表遗传标记抹除、重建过程,其抹除、重建、维持异常均可引起表遗传缺陷,也可能使原有缺陷消失。体外培养、操作、超促排卵等ART技术和不孕本身正处于重建窗口期,存在表遗传风险,但流行病学研究尚没有一致的意见。     

胚胎植入前遗传学检测技术的临床应用和发展前景

<正>植入前遗传学检测(preimplantation genetic testing, PGT)是辅助生殖与遗传学诊断技术相结合的一种胚胎检测技术，指对植入前的胚胎进行染色体或者特定基因检测，使得面临较高遗传风险妊娠的夫妇在选择遗传学正常的胚胎植入子宫后，可以降低自然流产的风险或者避免遗传性出生缺陷。相比于传统的产前诊断技术，PGT技术可以避免因发现胎儿遗传异常后不得不面临的选择性流产的身心痛苦，越来越成为人们首先考虑的生殖干预方式。     

妊娠中期羊水染色体检查662例临床分析

目的 分析妊娠中期染色体病高危胎儿染色体病的发生状况.方法 对2003年9月至2007年3月间中国医科大学附属盛京医院662例染色体病高危孕妇进行羊膜腔穿刺,采取羊水细胞培养,制备中期染色体,分析胎儿核型,进行产前诊断.结果 发现染色体异常21例,异常率3.2%,其中数目异常11例,结构异常10例,不同产前诊断指征分组中的异常率不同,以夫妇双方之一为平衡易位携带者组异常率最高,为53.8%.结论 妊娠中期对染色体病高危孕妇进行羊水细胞培养染色体核型分析是产前诊断的重要手段,孕母血清筛查阳性、高龄、超声检查异常及染色体平衡易位携带者是羊水染色体检查的指征.     

复发性自然流产的遗传学病因研究进展

复发性自然流产(RSA)是指连续发生2次或2次以上流产者。RSA病因复杂,近年来研究发现其与遗传学因素密切相关,包括胚胎及流产夫妇染色体异常和单核苷酸多态性(SNP)等。现将近年来复发性自然流产的遗传学病因作一综述。     

子宫移植实验研究进展

绝大部分子宫性不育的妇女没有成为遗传母亲的机会,除非采用妊娠代孕。但妊娠代孕有伦理和法律上的问题,所以子宫性不育的最根本、合理的治疗方法是子宫移植。子宫移植可以使妇女成为遗传和妊娠上的母亲。子宫移植作为未来治疗子宫性不孕的有效方法,在许多方面已经取得了研究成果,例如同种异体子宫移植的小鼠术后产下正常后代,现对该领域的研究进展做一综述。     

辅助生育技术进展──胚胎植入前遗传学诊断进展

卢光教授　胚胎植入前遗传学诊断(ＰＧＤ),又称为孕前诊断。顾名思义,是在胚胎植入母体前(或妊娠前)完成的遗传学诊断。因此不需要通过人工流产来选择胚胎,避免了人流对夫妇造成精神和肉体上的损伤。所以更易于为大众所接受,特别适用于有高风险生育遗传病患儿的夫妇,是近十年来遗传优生领域的重要进展。ＩＶＦ的问世是开展ＰＧＤ的必需前提。这不仅是能在体外获得胚胎并能操作胚胎,而且,通过药物诱导排卵,一次可得到数枚乃至数十枚胚胎,从而能充足地选择最好的胚胎,所以该方法可以排除遗传病携带者胚胎,阻断致病基因的纵向传递。1989～199…     

配子及胚胎冷冻对子代远期健康影响的研究进展

目前应用于临床的生育力保存手段主要包括:卵子冷冻保存、精子冷冻保存、胚胎冷冻保存、睾丸组织冷冻保存以及卵巢组织冷冻保存.随着冷冻保存技术的不断发展与应用,基于各种生育力保存技术出生的子代逐年增多.有研究表明,通过冻融配子或胚胎出生的子代孕产结局与新鲜周期存在差异.本文对生育力保存技术的临床应用,冷冻复苏技术对配子、胚胎...     

The long-term experiences of surrogates: relationships and contact with surrogacy families in genetic and gestational surrogacy arrangements

This study examined the contact arrangements and relationships between surrogates and surrogacy families and whether these outcomes differed according to the type of surrogacy undertaken. Surrogates' motivations for carrying out multiple surrogacy arrangements were also examined, and surrogates' psychological health was assessed. Semi-structured interviews were administered to 34 women who had given birth to a child conceived through surrogacy approximately 7 years prior to interview. Some surrogates had carried out multiple surrogacy arrangements, and data were collected on the frequency, type of contact, and surrogate's feelings about the level of contact in each surrogacy arrangement, the surrogate's relationship with each child and parent, and her experience of, and motivation for, each surrogacy. Questionnaire measures of psychological health were administered. Surrogates had completed a total of 102 surrogacy arrangements and remained in contact with the majority of families, and reported positive relationships in most cases. Surrogates were happy with their level of contact in the majority of arrangements and most were viewed as positive experiences. Few differences were found according to surrogacy type. The primary motivation given for multiple surrogacy arrangements was to help couples have a sibling for an existing child. Most surrogates showed no psychological health problems at the time of data collection.     

Survey of Japanese infertile couples' attitudes toward surrogacy

Aim. To clarify Japanese infertile couples' attitudes toward surrogacy, and analyse the results according to the contextual factors: ethical, social and medical aspects.

Methods. We performed a questionnaire survey anonymously on the attitude toward gestational surrogacy and traditional surrogacy in Japanese infertile couples (103 women and 60 men) between June and August 2000. We examined the relation between the acceptability of surrogacy and the background factors (age, type of procedure, the number of clinics visited, etc.), and also analysed the woman required as each type of surrogate mother whether the presence or absence of siblings in any of the infertile couple.

Results. The rates of using gestational and traditional surrogacy if they were necessary were 17% and 7% of women, 23% and 8% of men, respectively. ART group, ≥35 years of age group and ≤2 clinics visited group as a contextual factor influenced their affirmative determinants. Approximately 70% of the infertile couples preferred anonymity as a surrogate gestational mother. Regardless of whether each partner had a full sister, these tendencies were observed.

Conclusions. We found the contextual factors related to the acceptability of surrogacy. The ongoing deliberations toward surrogacy considering certain conditions of a concerned couple would be highly desirable.     

‘Not a primrose path’: Commissioning parents' experiences of surrogacy arrangements in Britain

Abstract

The introduction into UK legislation on 1 November 1994 of Section 30 of the Human Fertilisation and Embryology Act 1990 was the direct consequence of a married couple seeking to establish their parental responsibility for their genetic twins born to a surrogate mother. Whilst there has been considerable debate in the UK and elsewhere concerning the desirability or otherwise of surrogacy, the arguments for and against its regulation, and its impact on surrogate mothers, commissioning parents and children born following a surrogacy arrangement, little accurate knowledge concerning surrogacy arrangements has been available to inform either this debate or aid policy development. This paper provides information from interviews with commissioning parents undertaken as part of an exploratory empirical study of surrogacy arrangements in the UK, and complements an earlier account of the experiences of surrogate mothers (Blyth, 1994).     

A survey of judicial decisions concerning surrogacy disputes in Taiwan

Objective

Currently, Taiwan's Artificial Reproduction Act denies the legality of practicing surrogacy in Taiwan. The fact that numerous intended parents access surrogacy through fertility tourism or illegal practice leads to various types of disputes. This article illustrates the types of surrogacy-related disputes in Taiwan's legal environment, which lacks all regulation of surrogacy.

Mapping people’s views regarding the acceptability of surrogate motherhood

The aims of the present study were to map French laypersons’ views regarding the acceptability of maternal surrogacy and to delineate the circumstances under which surrogacy is considered, by different groups of people, as especially problematic. Participants (N = 236) were presented with a number of scenarios depicting the circumstances in which a couple has contracted with a surrogate mother and were asked to indicate the extent to which such a contract may present a moral problem. The scenarios were created by varying four factors: the type of surrogacy (traditional or gestational), the surrogate mother’s level of autonomy, the family context in which the surrogate mother lives, and whether surrogacy was commercial or altruistic. Three qualitatively different personal positions were found: (a) a majority group for which surrogacy always (30%) or often (34%) presents a moral problem, (b) a minority group (14%) for which maternal surrogacy does not systematically present a moral problem, and (c) another minority group (22%) for which circumstances – mainly the mother’s level of autonomy and the family context in which she lives – were completely determining.     

Building Irish families through surrogacy: medical and judicial issues for the advanced reproductive technologies

Surrogacy involves one woman (surrogate mother) carrying a child for another person/s (commissioning person/couple), based on a mutual agreement requiring the child to be handed over to the commissioning person/couple following birth. Reasons for seeking surrogacy include situations where a woman has non-functional or absent reproductive organs, or as a remedy for recurrent pregnancy loss. Additionally, surrogacy may find application in any medical context where pregnancy is contraindicated, or where a couple consisting of two males seek to become parents through oocyte donation. Gestational surrogacy is one of the main issues at the forefront of bioethics and the advanced reproductive technologies, representing an important challenge to medical law. This analysis reviews the history of surrogacy and clinical and legal issues pertaining to this branch of reproductive medicine. Interestingly, the Medical Council of Ireland does not acknowledge surrogacy in its current practice guidelines, nor is there specific legislation addressing surrogacy in Ireland at present. We therefore have developed a contract-based model for surrogacy in which, courts in Ireland may consider when confronted with a surrogacy dispute, and formulated a system to resolve any potential dispute arising from a surrogacy arrangement. While the 2005 report by the Commission on Assisted Human Reproduction (CAHR) is an expert opinion guiding the Oireachtas' development of specific legislation governing assisted human reproduction and surrogacy, our report represents independent scholarship on the contractual elements of surrogacy with particular focus on how Irish courts might decide on surrogacy matters in a modern day Ireland. This joint medico-legal collaborative also reviews the contract for services arrangement between the commissioning person/s and the surrogate, and the extent to which the contract may be enforced.     

Marital stability and quality in families created by assisted reproduction techniques: a follow-up study

An increasing number of children are being born with the use of assisted reproduction techniques such as donor insemination, egg donation and surrogacy. There have been concerns that the use of these third-party reproduction techniques may have a negative effect on the quality of the relationship between the mother and father. Marital stability and quality was examined in a UK sample of donor insemination, egg donation and surrogacy families and families in which children were naturally conceived. Interview and questionnaire assessments of marital stability and quality were collected from mothers and fathers over five time points, when the children in the families were aged 1, 2, 3, 7 and 10. Of those families who participated when children were 10 years old, a minority of couples in each family type had divorced/separated and few differences emerged between the different family types in terms of mothers’ or fathers’ marital quality. Despite concerns, couples in families created by donor insemination, egg donation and surrogacy were found to be functioning well.An increasing number of children are being born with the use of assisted reproduction techniques such as donor insemination, egg donation and surrogacy. There have been concerns that the use of these third-party reproduction techniques may have a negative effect on the quality of the relationship between the mother and father. Marital stability and quality was examined in a UK sample of donor insemination, egg donation, and surrogacy families and families in which children were naturally conceived. Interview and questionnaire assessments of marital stability and quality were collected from mothers and fathers over five time points, when the children in the families were aged 1, 2, 3, 7 and 10. Of those families who participated when children were 10 years old, a minority of couples in each family type had divorced/separated and few differences emerged between the different family types in terms of mothers’ or fathers’ marital quality. Despite concerns, couples in families created by donor insemination, egg donation and surrogacy were found to be functioning well.     

A Report on the Supports and Barriers of Surrogacy in Canada

The Assisted Human Reproduction Act regulates the practice of altruistic surrogacy in Canada, criminalizing monetary compensation yet permitting reimbursements for expenditures associated with pregnancy. Limited stipulations regarding permissible expenditures have created ambiguity for service users and providers. Despite these complexities, gestational surrogacy in Canada continues to proliferate. Yet, with limited empirical research in Canada, it is unclear how legislation has supported or hindered the practice of surrogacy. This paper reports on findings from a qualitative study that explored supports and barriers to surrogacy across six domains: (1) accessible surrogacy information, (2) surrogacy consulting services, (3) fertility clinic practices, (4) hospital policies, (5) public attitudes, and (6) federal legislation. Future practice and policy recommendations can encourage interdisciplinary dialogue to guide clinical practice and inform legislative action.     

‘This neo-natal ménage à trois’: British media framing of transnational surrogacy

Background: Media framing can influence people’s perceptions of social changes in family building, and has the potential to influence their future actions. Objectives: to analyse the type of framing and construction used in British newsprint of transnational commercial surrogacy. Methods: UK newspapers were searched using the search engine Lexis-Nexis. One hundred and ninety-seven articles were analysed. Content analysis was undertaken to identify the use of gain, loss, neutral, alarm and vulnerability frames, as well as type of construction (i.e. ethical, social, legal, financial and medical). Four researchers independently analysed articles using a coding strategy. Results: Differences between serious (mainly legal, financial), middle-market (legal) and tabloid (social, financial) newspapers were found. There were three main foci; buying babies – affordable only to those wealthy enough to pay for it; the legal complications of transnational surrogacy – reporting a sense of the legal system lagging behind this practice; and gay families – repeatedly questioning their suitability as parents – demonstrating a prevailing heterosexual stereotype about reproduction and parenting. Conclusions: Stereotyping was prevalent and the welfare of children and medical aspects of transnational surrogacy were minimally addressed, indicating the media selectively influences its readership.     

Proposed ethical guidelines and legislative framework for permitting gestational surrogacy in Singapore

Gestational surrogacy is currently banned in Singapore but is much debated. Some ethical guidelines and legislation for permitting gestational surrogacy in Singapore are proposed and discussed including: (i) review and approval of gestational surrogacy by the Ministry of Health on a case-by-case basis; (ii) stringent guidelines for gonadotrophin stimulation, IVF and ICSI procedures in 'traditional' surrogacy; (iii) restriction of gestational surrogates to parous married women with stable family relationships; (iv) exclusion of foreign women from acting as gestational surrogates, except for close relatives of the recipient couple; (v) reimbursement and/or compensation of gestational surrogates based on the direct expenses model; (vi) exclusion of medical professionals from surrogate recruitment and reimbursement; (vii) the surrogacy contract must make it legally binding for the prospective recipient couple to accept the child, even if it is born with congenital deformities; (viii) stringent guidelines for combining surrogacy with egg donation from a third woman, who is neither the social nor gestational mother. Policymakers in Singapore should conduct a public referendum on the legalization of gestational surrogacy and actively consult the views of healthcare professionals, religious and community leaders, as well as the general public, before reaching any decision.