染色体易位-胚胎植入前诊断的研究进展

染色体易位携带者有较高的发生不良妊娠结局的风险,主要源自高概率的非均衡配子。对于染色体易位的携带者,进行胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)可以改善妊娠结局。目前,临床应用的非平衡易位诊断的方法主要有比较基因组杂交微阵列(comparative genomic hybridization array,array CGH)、单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)和二代测序(next generation sequencing,NGS);荧光原位杂交(fluorescence in situ hybridization,FISH),能够区分平衡易位和正常胚胎,可能实现的技术有NGS。此外,平衡易位的诊断是否有必要开展尚存在争议。     

Sacrohysteropexy: A Way to Spare the Uterus

Study ObjectiveTo show the safety and feasibility of laparoscopic sacrohysteropexy for treating uterine prolapse.DesignAn educational video to explain the laparoscopic steps of this procedure by focusing on the main anatomic landmarks and on tips and tricks to avoid complications.SettingA tertiary care university hospital.InterventionsLaparoscopic sacropexy with uterus preservation for grade 3 apical defect.ConclusionThis video shows a stepwise approach to laparoscopic sacrohysteropexy demonstrating its feasibility and safety.There is a wide choice of surgical procedures and approaches focused on pelvic organ prolapse repair. Since many years, uterine prolapse has been an indication for hysterectomy, regardless of the occurrence of uterine disease and patients’ desires. With the introduction of minimally invasive surgery, the uterine-sparing procedures are being increasingly taken into account, especially in young women [1]. Sacrohysteropexy is a uterus-sparing procedure that allows for a reduction in operating time, intraoperative blood loss, mesh-related complications, and surgical costs [2]. Furthermore, this technique has a high success rate with an objective cure rate of 100% for the apical compartment and 80% for all compartments and does not seem to increase the pelvic organ prolapse recurrence rate [3]. Sacropexy is not a life-threatening procedure, but its main objective is to restore functional anatomy with the primary goal of improvement in patient's quality of life. Moreove, no difference has been found with or without uterus preservation in term of postoperative recurrence rate or ent's quality of life [4].However, high patient satisfaction has been recently reported; therefore, uterine preservation should be considered during patient's counseling.     

Mobilizing culture as an asset: a transdisciplinary effort to rethink gender violence

The contested relationship between gender violence and the "culture concept" can be found in the cultural defense of gender violence, gender violence linked to postcolonial retraditionalizations of family life, the underpolicing of gender violence associated with communities labeled as culturally backward, and the overpolicing of activities categorized by human rights advocates as harmful traditional practices. Culture has been used to defend, explain, or excuse gender violence, and seen as a barrier to the elimination of gender violence. Here, however, the authors analyze how culture has been mobilized strategically as a resource in the struggle against gender violence.     

经阴道植入网片盆底重建手术再认识

随着美国食品药品管理局（FDA）关于经阴道植入网片的盆底重建手术的特殊通告并伴随以部分网片厂家的产品退市,引起全球业内的很大反响,临床医生在盆底重建的术式选择中面临着困惑。全面了解FDA关于经阴道植入网片的盆底重建手术通告的背景和内涵,对于正确选择适合经阴道植入的网片进行盆底重建手术有重要的作用。     

Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review

Embryonic aneuploidies may be responsible for pregnancy failure in many IVF patients. In recent years, fluorescent in situ hybridisation (FISH) for multiple chromosomes has been used to document a high frequency of chromosomal errors and aneuploidy in human preimplantation embryos and, after embryo biopsy, to select embryos that are more likely to implant. Such studies suggest that women with recurrent miscarriage and advanced maternal age may benefit most from preimplantation genetic diagnosis with aneuploidy screening (PGD-AS). The success of PGD-AS is likely to be enhanced by new technologies, such as comparative genomic hybridisation, which enable full karyotyping of single cells.     

Embryo pooling: a promising strategy for managing insufficient number of embryos in preimplantation genetic diagnosis

This retrospective study evaluated the embryo pooling strategy for managing insufficient number of embryos in preimplantation genetic diagnosis (PGD) through serial vitrification of cleavage-stage embryos from consecutive cycles, and simultaneous blastocysts biopsy in combination with blastocysts obtained in ultimate fresh cycle. A retrospective analysis of the cumulative pregnancy rate of 68 patients underwent cleavage-stage embryos accumulation (Embryo Pooling Group) and 94 patients underwent one stimulation cycle (Control Group) over a 2-year period were conducted. The blastocyst formation rate was comparable between the consecutive cycles and the ultimate cycle in embryo pooling group (56.0 versus 62.0%, p?=?.078). No significant difference existed between twice-vitrified and once-vitrified warmed blastocysts with respect to implantation rate (50.8 versus 46.3%, p?=?.658). The implantation rate and cumulative pregnancy rate of embryo pooling group were 49.0 and 67.6%, respectively, which were statistically comparable to the corresponding values of 48.9 and 73.4% obtained in control group. Our study suggests that in patients undergoing ICSI-PGD who do not reach enough embryos in a single stimulation cycle, pooling embryos from consecutive ovarian stimulation cycles is a promising strategy, which can render a cumulative pregnancy rate comparable to those patients who only require one stimulation cycle.     

The significance of meconium in midtrimester genetic amniocentesis

Since the advent in recent years of midtrimester amniocentesis for genetic testing, there has been an increasing number of reports of occasional instances of meconium-stained amniotic fluid of uncertain prognostic significance. Previous reports have suggested a fetal mortality of 30%. With larger series now available for study, more accurate information on the incidence of this occurrence and its significance is presented. The present series consists of 4709 consecutive amniocenteses performed from 1978 to 1983, at two genetic testing centers in Portland, Oregon. Meconium-stained amniotic fluid was found in 79 cases, for an incidence of 1.67%. Contrary to previously published reports, the fetal mortality was 5.06%. Thus the finding of meconium-stained amniotic fluid during midtrimester genetic amniocentesis may not carry the ominous prognosis that originally might have been predicted.     

Prenatal diagnosis for psychological reasons: comparison with other indications, advanced maternal age and known genetic risk

In Sweden, about 20 per cent of women undergoing prenatal diagnosis (PND) have the test for 'psychological reasons', which means that they strongly fear giving birth to a disabled child, but have not reached the age limit. Women undergoing amniocentesis or chorionic villus biopsy for these reasons (n = 38) were studied by questionnaires with regard to distress during test procedures. They were compared to women examined because of a known or strongly suspected high risk of giving birth to a congenitally disabled child (n = 27) and to women examined because of an age more than 37 years (n = 144). The most distressed were women who had a high genetic risk. The women who had the test because of their age reported less distress. Women examined for psychological reasons, were moderately distressed, but reported the highest frequency of influence by the distress on their daily living. Women in all groups, however, felt a similar support by the normal test result and reported the whole procedure as rather easy. Different psychological determinants of anxiety of giving birth to a disabled child are discussed. The 'psychological indication' for PND means that the women's private interpretation of her risk, and not only the statistical limit, motivates PND.     

Frequency of embryos appropriate for transfer following preimplantation genetic testing for monogenic disease

Journal of Assisted Reproduction and Genetics - To identify specific likelihoods that an embryo will be classified as appropriate for transfer after preimplantation genetic testing for detection of...     

Preimplantation genetic diagnosis as a novel source of embryos for stem cell research

The generation of human embryonic stem (hES) cells has captured the public and professional imagination, largely due their potential as a means of overcoming many debilitating and degenerative diseases by cell replacement therapy. Despite this potential, few well-characterized hES cell lines have been derived. Indeed, in the UK, despite several centres having been active in this area for more than 2 years, there are as yet no published reports of human embryonic stem cells having been generated. Part of the reason for this lack of progress may relate to the quality of embryos available for research. Embryos surplus to therapeutic requirements following routine assisted reproduction treatment are often of poor quality and a large proportion may be aneuploid. This study reports a new approach to hES cell derivation. Embryos surplus to therapeutic requirements following preimplantation genetic diagnosis were used. Although unsuitable for embryo transfer due to the high risk of genetic disease, these embryos are from fertile couples and thus may be of better quality than fresh embryos surplus to assisted reproduction treatment cycles. Embryos donated after cryopreservation were also used, and putative hES lines were derived from both sources of embryos. The cell lines described here are thought to be the first reported hES cell lines to have been derived in the UK.     

Micromanipulation of gametes and embryos in preimplantation genetic diagnosis and assisted fertilization.

Recent advances in micromanipulation and biopsy of gametes and embryos have made it possible to develop new approaches for early genetic diagnosis and prevention of genetic disease and for treatment of severe male-factor infertility. Preimplantation diagnosis of a number of X-linked and autosomal recessive disorders has been performed, using polar body sampling and blastomere biopsy, coupled with polymerase chain reaction. Blastocyst biopsy has also been performed in human embryos; however, there has been no clinical application so far. Existing data have not shown any detrimental effect of micromanipulation and biopsy involved in the preimplantation development of the human embryo. The existing experience on micromanipulation of gametes (zona-opening procedures, subzonal sperm insertion, and sperm microinjection into the ooplasm) has also demonstrated the clinical usefulness in assisted fertilization, suggesting a possible selective application of various micromanipulation techniques and their combinations in male infertility.     

Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) can be offered as an alternative to prenatal diagnosis (PND) to couples at risk of having a child with a genetic disease. The affected embryos are detected before implantation by fluorescent in situ hybridisation (FISH) for sexing (X-linked diseases) and chromosomal disorders (numerical and structural) or by polymerase chain reaction (PCR) for monogenic disorders (including some X-linked diseases). The accuracy and reliability of the diagnosis is increased by analysing two blastomeres of the embryo. However, the removal of two blastomeres might have an effect on the implantation capacity of the embryo. We have evaluated the implantation of embryos after the removal of one, two or three cells in 188 PGD cycles where a transfer was done. The patients were divided into five groups: a first group which received only embryos from which one cell had been removed, a second group which received only embryos from which two cells had been removed, a third group which received a mixture of embryos from which one and two cells had been taken, a fourth group where two and three cells had been removed, and a fifth group where three cells had been removed. The overall ongoing pregnancy rate per transfer was 26.1%, the overall implantation rate per transfer was 15.2% and the overall birth rate was 14.2%. Although pregnancy rates between the groups cannot be compared because the second group (two cells removed) contains more rapidly developing and therefore 'better quality' embryos, an ongoing pregnancy rate of 29.1% and an implantation rate of 18.6% per transferred embryo in this group is acceptable, and we therefore advise analysing two cells from a > or =7-cell stage embryo in order to render the diagnosis more accurate and reliable.     

Ten reasons to oppose the criminalization of HIV exposure or transmission

Recent years have seen a push to apply criminal law to HIV exposure and transmission, often driven by the wish to respond to concerns about the ongoing rapid spread of HIV in many countries. Particularly in Africa, some groups have begun to advocate for criminalization in response to the serious phenomenon of women being infected with HIV through sexual violence or by partners who do not reveal their HIV diagnoses to them. While these issues must be urgently addressed, a closer analysis of the complex issues raised by criminalization of HIV exposure or transmission reveals that criminalization is unlikely to prevent new infections or reduce women's vulnerability to HIV. In fact, it may harm women rather than assist them, and have a negative impact on public health and human rights. This paper is a slightly revised version of a document originally released in December 2008 by a coalition of HIV, women's and human rights organizations. It provides ten reasons why criminalizing HIV exposure or transmission is generally an unjust and ineffective public policy. The obvious exception involves cases where individuals purposely or maliciously transmit HIV with the intent to harm others. In these rare cases, existing criminal laws – rather than new, HIV-specific laws – can and should be used.