25例产道血肿及其预后的临床分析

目的：探讨产道血肿形成的病因，临床处理及预后。方法：选取2001年8月至2006年8月阴道分娩的4000例产妇，其中25例发生产道血肿，对其进行回顾性分析，通过分析其病因，临床处理及转归，对该病的预防，诊治经验和教训进行总结评价。结果：产道血肿的发生率为0．625％，经过积极有效的处理，25例发生产道血肿的产妇均痊愈。结论：分娩过程中，应仔细询问产妇病史，对存在有可能发生出血倾向的高危孕妇应严密观察，争取做到早发现；而已发生血肿的产妇，应针对不同病因早治疗，以改善产妇的预后。     

胚胎种植前遗传学检测助孕妊娠结局的影响因素研究

背景 育龄期女性胚胎着床失败及流产的最常见原因是胚胎异常,但移植经胚胎种植前遗传学检测(PGT)筛选后的正常胚胎后,仍出现种植失败或流产的原因目前并没有形成统一的结论。目的 分析PGT助孕后种植失败及流产的影响因素。方法 回顾性分析2018年12月至2021年2月在安徽医科大学第一附属医院生殖中心行PGT助孕的329例患者的临床资料,根据患者是否临床妊娠分为临床妊娠组(n=218)和种植失败组(n=111),并将临床妊娠组患者根据妊娠结局分为活产亚组(n=175)和流产亚组(n=43)。比较临床妊娠组和种植失败组,活产亚组和流产亚组的一般情况、促排卵及体外胚胎发育情况。采用多因素Logistic回归分析探讨PGT患者种植失败及流产的影响因素。绘制受试者工作特征(ROC)曲线分析多因素Logistic回归分析筛选出的影响因素对PGT患者发生种植失败及流产的预测价值。结果 多因素Logistic回归分析显示,既往流产次数≥2次〔OR=4.032 0,95%CI(2.423 0,6.710 0)〕、高密度脂蛋白胆固醇(HDL-C)水平低〔OR=3.890 0,95%CI(1.455 0,10...     

极低体质量近存活期分娩儿一例的出生后早期管理

近存活期分娩（PVB）儿各组织系统发育极不成熟,易发生各种器官功能损害和并发症,预后常不佳。目前关于PVB儿出生后早期管理的报道不多,诸多尚待解决的问题仍是围产医学所面临的挑战。经有效的新生儿复苏和呼吸循环支持、积极的营养支持和喂养、防治感染、内分泌和代谢性疾病管理、积极处理早产儿相关并发症,以及发育支持护理、家庭参与式护理等一系列个体化管理和精细化护理,四川省医学科学院·四川省人民医院成功救治了1例胎龄23周,出生体质量（BW）为450 g的PVB儿。本文通过总结1例PVB儿的出生后早期管理,并结合文献复习进行归纳总结,以期为提高BW<500 g的PVB儿存活率并获得良好预后提供经验及借鉴。     

FG syndrome in a premature male

A 30-week premature male infant is presented with dolichocephaly, frontal bossing, down-slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.     

Birth weight and age at menopause in Australian female twin pairs: exploration of the fetal origin hypothesis

In a twin sample where duration of gestation can be controlled, a specific example of the fetal origins hypothesis concerning association between low birth weight and early age at menopause is explored. The hypothesis is based on the physiologically plausible path from intrauterine growth retardation and reduced numbers of primary follicles to an earlier menopause. The sample comprised 323 Australian female twin pairs where both co-twins had reached menopause naturally and reported on their weight at birth. Regression analysis showed no linear association between the two variables (P = 0.371, r(2) = 0.0009). Intra-pair differences in age at menopause were investigated in the context of relative birth weight of co-twins. In 265 pairs an intra-pair birth weight difference was reported. In monozygotic (MZ) pairs (n = 168) this allowed for control of genetic effects as well as gestation duration. No significant differences dependent on birth weight relative to co-twin were found for age at natural menopause in either MZ or dizygotic (DZ) twin pairs, even in pairs whose birth weights differed markedly. There was some indication that twins with premature ovarian failure were heavier at birth than twins with normal or later menopausal age. We conclude that the hypothesis that lower birth weight is associated with earlier menopause is not supported by our data.     

A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs

Roberts syndrome is a rare autosomal recessive condition characterized by growth retardation, cranio-facial abnormalities and symmetrical limb reduction of variable severity. Most patients with Roberts syndrome show a typical cytogenetic finding known as "Roberts syndrome effect". We describe a 4-month-old patient with a mild form of this syndrome, who presented with an asymmetrical reduction of the right upper limb.     

Mild Brachmann–de Lange syndrome: Changes of phenotype with age

We present a girl with mild manifestations of the Brachmann-de Lange syndrome (BDLS) with gradual change of the phenotype. Her findings support the hypothosis of variability of the phenotypic spectrum of the disorder.     

Premature ovarian failure

Premature ovarian failure (POF) causing hypergonadotrophic hypogonadism occurs in 1% of women. In majority of cases the underlying cause is not identified. The known causes include: (a) Genetic aberrations, which could involve the X chromosome or autosomes. A large number of genes have been screened as candidates for causing POF; however, few clear causal mutations have been identified. (b) Autoimmune ovarian damage, as suggested by the observed association of POF with other autoimmune disorders. Anti-ovarian antibodies are reported in POF by several studies, but their specificity and pathogenic role are questionable. (c) Iatrogenic following surgical, radiotherapeutic or chemotherapeutic interventions as in malignancies. (d) Environmental factors like viral infections and toxins for whom no clear mechanism is known. The diagnosis is based on finding of amenorrhoea before age 40 associated with FSH levels in the menopausal range. Screening for associated autoimmune disorders and karyotyping, particularly in early onset disease, constitute part of the diagnostic work-up. There is no role of ovarian biopsy or ultrasound in making the diagnosis. Management essentially involves hormone replacement and infertility treatment, the only proven means for the latter being assisted conception with donated oocytes. Embryo cryopreservation, ovarian tissue cryopreservation and oocyte cryopreservation hold promise in cases where ovarian failure is foreseeable as in women undergoing cancer treatments.     

How communication about risk and role affects women’s decisions about birth after caesarean

Objective

This study investigated how health care provider communication of risk information, and women’s role in decision-making, influenced women’s preferences for mode of birth after a previous caesarean birth.

Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: Results of a United States study

Data on the occurrence of neural tube defects in first-, second-, and third-degree relatives of probands were collected in a United States study. The proportions of affected individuals were 3.2%, 0.5%, and 0.17% respectively. These findings are compared to those from other recent North American studies, and differences are discussed. It is pointed out that accurate recurrence risk figures may not be available, and that caution should be used when counseling families with relatives who are affected with NTD.