继发于肾上腺腺瘤的库欣综合征孕期诊治

库欣综合征(Cushing's syndrome,CS)是皮质醇过度分泌导致的临床综合征.由于高雄激素和高皮质醇对垂体释放促性腺激素的抑制,导致CS患者多有排卵障碍及不孕,故CS合并妊娠罕见.自1953年McConahey报道首例至今,全球仅有150例相关报道[1].现报告我院诊治的1例CS合并妊娠.     

妊娠合并甲状腺功能减退症或亚临床甲状腺功能减退症77例临床分析

Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy.     

白化病产前诊断的研究进展

1概述 白化病是一组调控黑色素或黑素小体合成、转运相关的基因突变导致眼、皮肤和毛发黑色素减少或缺乏的一种遗传病~([1]).部分综合征型白化病因并发免疫缺陷或肺纤维化,可在幼年或中年死亡~([2]),是危害较严重的遗传病之一,已被列入我国出生缺陷干预的疾病之一.     

妊娠合并甲状腺功能减退症或亚临床甲状腺功能减退症77例临床分析

Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy.     

NIPT用于产前胎儿常见染色体非整倍体筛查的相关问题

正非侵入性(或无创)产前检测(non-invasive prenatal test,NIPT)是基于对于孕期母亲外周血游离DNA进行平行测序,即将母体游离DNA与胎儿游离DNA(cf-DNA)共同检测以判断常见胎儿染色体非整倍体异常的一种产前筛查技术。基于其较高的检出率以及与传统的血清学筛查相比极低的假阳性率和假阴性率,越来越被广大的临床医生和孕妇所接受,近年来在世界范围内也得到越来越广泛的应用。国际上许多学术组织相继发表了委员会意见和指南并不断     

26例胎儿鼻骨发育异常的产前诊断结果分析

目的探讨胎儿鼻骨缺失和发育不良的产前诊断、遗传咨询、临床处理路径。方法2016年12月1日至2017年12月1日,在中国医学科学院北京协和医院产检的孕妇中,发现鼻骨发育异常26例,根据是否合并其他超声异常,分为孤立性和非孤立性鼻骨发育异常两组。所有病例均行产前染色体核型分析及染色体微阵列分析(chromosomal microarray analysis,CMA),回顾性分析两组病例的临床资料、产前遗传学诊断结果和妊娠结局。结果孤立性鼻骨缺失或发育不良共18例,其中14例染色体核型分析及CMA结果未见异常,另4例CMA结果为临床意义不明的拷贝数变异(variants of unknown significance,VUS),偏良性,均继续妊娠,随访新生儿均正常。非孤立性鼻骨缺失或发育不良共8例,1例为21三体,2例为18三体,2例CMA结果为致病性拷贝数变异(copy number variation,CNV)。3例染色体核型分析和CMA均未见异常,其中1例进一步行全外显子测序(whole exome sequencing,WES)分析,提示胎儿为RPGRIP1L基因的复合杂合突变,诊断为Meckel综合征。8例非孤立性鼻骨缺失或发育不良的病例中,7例孕妇选择终止妊娠,另1例双胎之一超声异常,畸形新生儿出生后即夭折。结论对于产前超声发现鼻骨发育异常的病例,无论其是否合并其他超声异常,均建议行包括CMA在内的产前遗传学诊断,必要时进一步行WES分析。     

足月妊娠引产时延长地诺前列酮放药时间的疗效观察

目的 研究足月妊娠引产时应用地诺前列酮(普贝生)延长放药时间最长至24小时的疗效及其不良反应.方法 对2007年1月1日至2008年12月31日使用普贝生引产的足月孕妇的病历资料进行回顾性分析,其中12小时内未取药未临产的患者160例作为研究对象,对12小时取出药物者(A组,52例)与继续放药最长至24小时者(B组,108例)进行比较,包括:基本情况、临床疗效(主要包括阴道分娩率、宫颈评分改善情况、催产素使用率).结果 两组基本情况比较差异无统计学意义.在放药12小时未临产且无其他取药指征的产妇中,进一步延长放药时间最长至24小时能显著改善宫颈评分,提高临产率,降低催产素的使用率,最终提高阴道分娩率.而母儿并发症的发生率无显著增加.延长普贝生放药时间提高引产成功率的主要原因在于有许多产妇在放药的12～24小时内发生临产.结论 普贝生用于足月妊娠引产时,如12小时未临产,延长放药时间可以进一步改善宫颈评分、增加阴道分娩率、降低催产素的使用率,且不增加母儿并发症.     

Pregnancy and Birth After Assisted Repro-ductive Technologies

人工助孕技术已被越来越广泛地用于临床。关于卵泡发育、体外受精、胚胎移植等方面的文献资料已经很多。但是，讨论人工助孕后妊娠的并发症、分娩、胎儿成长发育的书籍却很少。     

宫腔镜下子宫内膜切除:一种治疗月经过多的新技术

宫腔镜技术用于治疗月经过多,其损伤小,术后病率低,病人恢复快,可在门诊操作。 尽管有如此多的优点,但仍有很多问题,大多数病人需要一定方式的内膜准备,亦不能预知烧灼深度,除取内膜标本外,不能提供病理标本。     

综合医院如何开展椎管内分娩镇痛工作

2018年国家卫生健康委员会医政医管局发布了《关于开展分娩镇痛试点工作的通知》,各省市自治区均有多家医院成为国家分娩镇痛试点医院。妇产专科医院和妇幼保健院的椎管内分娩镇痛率普遍较高,部分医疗机构高达80%以上。北京及上海等某些综合医院椎管内分娩镇痛率已超过40%[1],但仍有其他城市大量综合医院提升有限,甚至无法突破40%的及格线。本文对中国医学科学院北京协和医院开展椎管内分娩镇痛的相关工作流程及经验进行总结,希望能有可借鉴之处,促进综合医院椎管内分娩镇痛工作的开展。