Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications,frequency and mechanism

Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare phenomenon, mainly observed in subjects with a normal phenotype accompanied by reproductive failure. To date the mechanism of origin and the incidence of BRTM are poorly defined.Here we describe 10 new cases of BRTM. In 9 cases chromosome analysis revealed the presence of two different cell lines, one with a normal karyotype and the second with an apparently balanced reciprocal translocation. In the remaining case, both cell lines showed two different, but apparently balanced, reciprocal translocations.We document the clinical implications of BRTM, discuss its frequency in our referred population and suggest that carrier individuals might be more frequent than expected.     

2008年汶川大地震灾后高龄经产妇再次妊娠结局分析

目的 分析2008年汶川大地震后地震重灾区高龄妇女再次妊娠结局,为高龄妇女的孕前保健提供参考。方法 回顾性调查接受地震重灾区再生育全程服务的542例妊娠经产妇的临床资料,根据妊娠终止年龄分为高龄组（≥35岁）和非高龄组（<35岁）,比较两组妊娠结局,包括基本情况、妊娠率、妊娠合并症/并发症、妊娠结果及围产儿情况。结果 2008~2013年542例再生育妇女（高龄组366例,非高龄组176例）共妊娠622人次,生育（足月和早产）517人次,活产522人（双胎6例）,有出生缺陷3例。高龄组的两年内累积妊娠率低于非高龄组,高龄组妊娠高血压疾病、妊娠期糖尿病、多胎、胎儿宫内窘迫、低出生体重儿、出生缺陷的发生率较高,非高龄组足月活产率较高、流产率较低,但差异无统计学意义。结论 接受地震灾区再生育全程服务的高龄经产妇再次妊娠结局与非高龄经产妇相当。     

420例流产物染色体核型分析

目的探究流产物染色体异常核型。方法选择420例首次流产（早期流产）患者的宫腔搔刮或负压抽吸的流产物进行染色体核型分析。结果420例样本染色体核型分析结果正常145例（34.5%）,异常230例（54.8%）,体外培养未见细胞生长45例（10.7%）。230例染色体异常样本中以染色体数目异常最为常见,主要有16-三体42例（18.2%）、三倍体28例（12.2%）、X单体25例（10.8%）、四倍体12例（5.2%）、15-三体12例（5.2%）,其他类型染色体异常包括染色体片段缺失、重复、插入、易位等。结论染色体异常是早期流产的重要原因,其中16-三体是最常见的染色体异常核型。     

Knowledge,attitude, and practices regarding miscarriage: A cross-sectional study among Flemish midwives

Objectiveto examine the knowledge, attitude and practices (KAP) of Flemish midwives regarding miscarriage.Design and settinga cross-sectional KAP study was conducted in 28 hospitals in Flanders (Northern region of Belgium) from September 2015 to January 2016.Participantsa total of 647 out of 1200 midwives (53.9%) working on maternity, labour and gynaecological wards, maternal and neonatal (intensive) care units, antenatal consultations, and reproductive medicine were recruited.Measurementsdata were collected using a semi-structured, self-administered questionnaire.Findingsthe mean knowledge score was 6.31 out of 10. Of all participants, 47% recently cared for couples with miscarriage, and the majority (97%) indicated a key role for midwives in the psychosocial support of those couples. Lack of time, incapability and fear of being overwhelmed by their own feelings were identified as main barriers for psychosocial support. Knowledge was more often evaluated as adequate when miscarriage was included in the midwifery education (31% vs. 17.3%, χ² = 12.965, df = 1, p<0.001). Midwives trained for the topic ‘miscarriage’ more often valued their role in miscarriage care (98.8% vs. 94.1%, χ² = 11.002, df = 1, p = 0.001). They considered themselves being more capable to provide adequate psychosocial support when feeling sufficiently trained in communicative skills (77.7% vs. 33.8%, χ² = 96.574, df = 1, p<0.001). The majority (72.4%) indicated a lack of knowledge regarding miscarriage. Almost 89% expressed a need for extra training.Conclusions and implications for practicemidwives in Flanders assist in the care for couples with miscarriage and consider themselves as a key healthcare provider in the psychosocial support. This study highlighted several barriers regarding miscarriage care, e.g. a lack of knowledge and incapability. Adequate training in knowledge and communication skills is important and necessary in order to promote appropriate care to couples experiencing pregnancy loss and increase awareness among all health professionals involved in obstetric care. Further research should investigate to what extent miscarriage is included in the educational midwifery programmes, and how the current healthcare practice regarding miscarriage care is organised.     

论米非司酮的应用及其影响

米非司酮是一种孕激素拮抗剂,临床应用极为广泛,主要用于避孕和流产,以及治疗子宫肌瘤和妇科恶性肿瘤,同时还可治疗子宫内膜异位症及其它妇科疾病.它在作用显著的同时,但也有一定的副反应,因此提醒有关部门要谨慎管理,提醒患者要安全使用.     

Influence of resveratrol supplementation on IVF–embryo transfer cycle outcomes

Research questionDoes resveratrol, a polyphenolic compound, affect IVF–embryo transfer outcomes?DesignThis single-centre, cross-sectional retrospective study was designed to compare the outcomes of embryo transfer cycles in women receiving resveratrol supplementation (200 mg/day) continuously (RES group) with a control group (non-RES group). Of 8686 embryo transfer cycles, 1409 cycles with poor prognostic factors were excluded, including cycles in women aged ≥43 years and those with poor-quality embryos. The RES group (204 cycles, 102 women) was compared with the non-RES group (7073 cycles, 2958 women).ResultsAfter matching patients by age at the time of oocyte retrieval, grade and developmental stage of embryos, number of embryos transferred, and fresh or vitrified-warmed embryo transfer, multivariate logistic regression analysis showed that resveratrol supplementation is strongly associated with a decrease in clinical pregnancy rate [odds ratio (OR) 0.539, 95% confidence interval (CI) 0.341–0.853] and an increased risk of miscarriage (OR 2.602, 95% CI 1.070–6.325).ConclusionsResveratrol supplementation during embryo transfer cycles appears to be detrimental for pregnancy outcomes. An analysis of the supplementation protocol and randomized controlled studies are needed.     

72例输卵管妊娠临床分析

我院1998年1月至2003年6月间手术并经病理检查证实的输卵管妊娠72例,其中输卵管妊娠流产型32例,(44.44%),破裂型40例(55.55%),好发年龄23～30岁为多见,共45例(62.5%)。输卵管妊娠与孕产次、流产史均有密切关系,孕产次越多或有反复人流史发病率越高。破裂与流产型比较,破裂型病情重,晕厥与休克较流产型多见,而且出现明显体征,腹腔内出血量有明显的差别﹙P<0.01,认为输卵管妊娠如能及早做出诊断,及时手术治疗,疗效最好。     

Counseling women with early pregnancy failure: utilizing evidence, preserving preference

Objectives

To apply principles of shared decision-making to EPF management counseling. To present a patient treatment priority checklist developed from review of available literature on patient priorities for EPF management.

Methods

Review of evidence for patient preferences; personal, emotional, physical and clinical factors that may influence patient priorities for EPF management; and the clinical factors, resources, and provider bias that may influence current practice.

Results

Women have strong and diverse preferences for EPF management and report higher satisfaction when treated according to these preferences. However, estimates of actual treatment patterns suggest that current practice does not reflect the evidence for safety and acceptability of all options, or patient preferences. Multiple practice barriers and biases exist that may be influencing provider counseling about options for EPF management.

Conclusion

Choosing management for EPF is a preference-sensitive decision. A patientcentered approach to EPF management should incorporate counseling about all treatment options.

Practice implications

Providers can integrate a counseling model into EPF management practice that utilizes principles of shared decision-making and an organized method for eliciting patient preferences, priorities, and concerns about treatment options.