应用巢式PCR检测孕妇血浆及尿液中Y染色体特异DNA

为应用无创伤性巢式PCR术检测不同孕期孕妇血浆和尿液中胎儿Y染色体特异DNA进行研究。由于正常非孕育龄妇女染色体中不含有Y染色体特异DNA,故在对孕妇血液及尿液的PCR检测中,如出现Y染色体特异DNA扩增片断则说明系为胎儿所携带的遗传物质,证明该胎儿为男婴。     

人类SRY基因用于产前诊断的初步研究

目的：建立一种对性连锁遗传病胎儿进行产前性别诊断的方法。方法：采用聚合酶链式反应（ＰＣＲ）扩增男性特异的ＳＲＹ基因，扩增片段大小为４２２ｂｐ。结果：对不同标本的扩增表明，１０例男性标本中均出现该特异扩增片段，而女性无此片段；２０例羊水标本的扩增结果与其新生儿实际性别完全一致；４７例绒毛标本中２２例阳性，阴性／阳性之比为１∶１．１３６，接近实际的胎儿性别之比。同时进行了全血和羊水的直接ＰＣＲ，在４μｌ至０．５μｌ血时可出现扩增带，羊水在２ｍｌ至０．５ｍｌ时也出现扩增带。结论：ＰＣＲ特异扩增ＳＲＹ基因片段，在临床上可用于性连锁遗传病的产前性别诊断     

应用多重巢式及荧光聚合酶链反应技术对β地中海贫血进行植入前遗传学诊断

目前，国外对β地中海贫血的植入前遗传学诊断，主要应用巢式PCR结合突变检测技术”。但由于β地中海贫血基因的高度异质性，我国β地中海贫血突变基因类型与国外报道的不同。本研究根据我国常见的β地中海贫血突变基因类型，应用多重巢式PCR及荧光PCR技术，于2003年对4例β地中海贫血患者进行了临床植入前遗传学诊断，获得1例临床妊娠。现将结果报道如下。     

PCR技术在产前诊断胎儿非整倍体的应用

大多数染色体异常为21,13,18号染色体及性染色体的非整倍体异常,血清筛查结果为高风险及年龄35岁以上的妊娠妇女均需进行产前诊断。而产前诊断染色体异常的传统方法是核型分析,染色体核型分析结果一般需要2～3周。随着分子生物学的飞速发展,聚合酶链反应技术不断应用于染色体非整倍体的产前诊断,这些新技术敏感性高、特异性强、操作简便、实验周期短,适合于非整倍体的产前诊断。     

PCR技术在产前诊断胎儿非整倍体的应用

大多数染色体异常为21,13,18号染色体及性染色体的非整倍体异常,血清筛查结果为高风险及年龄35岁以上的妊娠妇女均需进行产前诊断。而产前诊断染色体异常的传统方法是核型分析,染色体核型分析结果一般需要2～3周。随着分子生物学的飞速发展,聚合酶链反应技术不断应用于染色体非整倍体的产前诊断,这些新技术敏感性高、特异性强、操作简便、实验周期短,适合于非整倍体的产前诊断。     

唐氏综合征的产前诊断分子技术研究进展

唐氏综合征是人类常见的染色体疾病，经典的细胞遗传学方法是诊断唐氏综合征的金标准，但其局限性不适合大规模的产前诊断。随着分子细胞遗传学技术发展，荧光原位杂交技术（FISH）、定量荧光PCR（QF-PCR）、微阵列-比较基因组杂交（Array CGH）、多重连接探针扩增技术（MIJPA）、引物原位标记技术（PRINs）等被用于唐氏综合征快速产前诊断，各种方法各有优劣，改进后会大力推进唐氏综合征的产前诊断速度和准确性。     

胚胎单个卵裂球人类白细胞抗原基因的检测及意义

单细胞PCR技术用于胚胎植入前单基因遗传疾病的诊断已经取得成功，并且应用于对单个卵裂球人类白细胞抗原(human leucocyte antigen，HLA)基因的检测。本研究探讨单个卵裂球HLA基因的检测方法及意义。     

定量荧光PCR在唐氏综合征快速产前诊断中的应用研究

目的 :了解中国人 D2 1 S1 1、D2 1 S1 2 70、D2 1 S2 2 6、D2 1 S1 41 1四个短串联重复序列 ( STR)位点的多态性信息含量 ( PIC) ,建立定量荧光 PCR快速产前诊断唐氏综合征的方法。方法 :以染色体2 1 q2 1～ q2 2 .3区段内四个短串联重复序列作为遗传标记 ,采用定量荧光 PCR对 5 0例正常人外周血 DNA进行分析 ,计算中国人该四对 STR位标的多态性信息含量 ( PIC) ,并用该方法对 1 1例正常孕妇羊水 DNA进行分析 ,及对唐氏综合征血清生化指标筛查阳性孕妇羊水标本进行产前诊断。结果 :D2 1 S1 1、D2 1 S1 2 70、D2 1 S2 2 6、D2 1 S1 41 1的多态性信息含量分别是 0 .90 2、0 .889、0 .5 2 1、0 .775 ,建立了定量荧光 PCR产前诊断唐氏综合征的方法。应用该技术产前诊断出 3例唐氏综合征患儿 ,并经染色体核型分析所证实。结论 :以上四对 STR在中国人中均具有较高多态性信息含量 ,可应用于唐氏综合征的定量荧光 PCR产前诊断技术中     

唐氏综合征的产前诊断分子技术研究进展

唐氏综合征是人类常见的染色体疾病,经典的细胞遗传学方法是诊断唐氏综合征的金标准,但其局限性不适合大规模的产前诊断.随着分子细胞遗传学技术发展,荧光原位杂交技术(FISH)、定量荧光PCR(QF-PCR)、微阵列-比较基因组杂交(Array CGH)、多重连接探针扩增技术(MLPA)、引物原位标记技术(PRINS)等被用于唐氏综合征快速产前诊断,各种方法各有优劣,改进后会大力推进唐氏综合征的产前诊断速度和准确性.     

腹主动脉球囊预置术与髂内动脉球囊预置术在植入型凶险性前置胎盘治疗中的比较研究

目的:比较研究腹主动脉球囊预置术与髂内动脉球囊预置术在植入型凶险性前置胎盘治疗中的临床疗效。方法:选择2014年1月至2015年4月住院治疗的植入型凶险性前置胎盘患者64例,随机分为两组,择期剖宫产术前行腹主动脉球囊置管32例(腹主动脉组)和双侧髂内动脉球囊置管32例(髂内动脉组),观察比较两组孕妇术中、术后情况及新生儿出生和婴儿期生长发育情况。结果:两组患者在手术时间、术中出血量、术后最高体温、输血率、子宫切除率、住院时间、球囊预置术后穿刺部位出血率、感觉障碍发生率、新生儿Apgar评分、新生儿身高、出生体质量等方面比较,差异均无统计学意义(P0.05);而腹主动脉组球囊预置时间、透视时间、放射剂量均显著低于髂内动脉组(P0.05)。术后1年内随访,两组婴儿在42天、3个月、6个月、1年的体质量及身高情况比较,差异均无统计学意义(P0.05)。结论:腹主动脉球囊预置术与髂内动脉球囊预置术在植入型凶险性前置胎盘的治疗中均能安全、有效减少术中出血。而腹主动脉球囊预置术X线暴露时间更短、预判效果无需造影剂,对母胎保护性更强,可在临床推广。     

Laparoscopic Morcellator-Related Complications

Morcellation at laparoscopy is a commonly used minimally invasive method to extract bulky tissue from the abdomen without extending abdominal incisions. Despite widespread use of morcellation, complications still remain underreported and poorly understood. We performed a systematic review of surgical centers in the United States to identify, collate and update the morcellator-related injuries and near misses associated with powered tissue removal. We searched articles on morcellator-related injuries published from 1993 through June 2013. In addition, all cases reported to MedSun and the FDA device database (MAUDE) were evaluated for inclusion. We used the search terms “morcellation,” “morcellator,” “parasitic,” and “retained” and model name keywords “Morcellex,” “MOREsolution,” “PlasmaSORD,” “Powerplus,” “Rotocut,” “SAWALHE,” “Steiner,” and “X-Tract.” During the past 15 years, 55 complications were identified. Injuries involved the small and large bowels (n = 31), vascular system (n = 27), kidney (n = 3), ureter (n = 3), bladder (n = 1), and diaphragm (n = 1). Of these injuries, 11 involved more than 1 organ. Complications were identified intraoperatively in most patients (n = 37 [66%]); however, the remainder were not identified until up to 10 days postoperatively. Surgeon inexperience was a contributing factor in most cases in which a cause was ascribed. Six deaths were attributed to morcellator-related complications. Nearly all major complications were identified from the FDA device database and not from the published literature. The laparoscopic morcellator has substantially expanded our ability to complete procedures using minimally invasive techniques. Associated with this opportunity have been increasing reports of major and minor intraoperative complications. These complications are largely unreported, likely because of publication bias associated with catastrophic events. Surgeon experience likely confers some protection against these injuries. Understanding and implementing safe practices associated with the use of the laparoscopic morcellator will reduce these iatrogenic injuries.     

Fístula cutáneo-uterina poscesárea

A fistula is an abnormal communication between two epithelial surfaces. Although fistulas that wrap around the uterus are not infrequent, uterocutaneous fistula is rare. The treatment of choice is abdominal hysterectomy with excision of the fistula up to the skin. We report two cases of uterocutaneous fistula requiring surgical treatment.     

宫腔镜下清宫术治疗剖宫产瘢痕妊娠前不同预处理方式的疗效分析

目的:探讨宫腔镜下清宫术治疗剖宫产瘢痕妊娠(CSP)前不同预处理方式的临床效果。方法:回顾性分析2014年10月至2015年10月本院住院中B超检查提示妊娠囊下缘距子宫切口小于1.0 cm行宫腔镜下清宫术并确诊为CSP的患者170例作为研究对象。其中直接行宫腔镜下清宫术的患者23例(A组);行米非司酮+米索前列醇药物治疗后在宫腔镜下行清宫术的患者29例(B组);行米非司酮+甲氨蝶呤+米索前列醇杀胚治疗后在宫腔镜下行清宫术的患者40例(C组);行子宫动脉灌注+介入栓塞术后在宫腔镜下行清宫术的患者78例(D组),比较4组患者治疗效果。结果:①所有患者手术顺利,无一例发生术中大出血和组织残留,4组患者治疗后血β-HCG较治疗前明显下降,术后血β-HCG、术中出血量、手术时间两两比较,差异无统计学意义(P0.05)。②A组和D组住院时间较短,B组和C组较长,A组与D组住院时间差异无统计学意义(P0.05),但其余两两比较,差异有统计学意义(P0.05)。③A组住院费用最少,D组最多,B组住院费用与C组比较差异无统计学意义(P0.05),但其余两两比较,差异均有统计学意义(P0.05)。④术后不良反应情况:A组术后无一例发生不良反应,B组术后有2例肝功能受损,3例恶心、呕吐等胃肠道反应,C组术后有3例肝功能受损,26例发生胃肠道反应;D组1例发生肝功能受损,16例发热,57例疼痛,对症治疗后好转。结论:CSP的治疗应根据患者病情、经济条件、个人意愿和医院的技术设备条件选择合适的治疗方案。     

The gynecologist and the melanoma: breast and endometrial metastases

Melanoma has an important metastatic potential and its incidence is greatly increasing. Even after many years of negative follow-up, gynecologists should be aware that a gynecological tumor might be a secondary location for a woman with a medical history of melanoma. Because of a poor prognosis and a reduced life expectancy, it is necessary to make a disease staging in order to offer a prompt diagnosis and a personalized strategy of treatment. Considering the increasing incidence of melanoma, gynecologists will face more frequently with this situation.     

Anticoagulación en gestantes portadoras de prótesis mecánicas

Objective

To study distinct anticoagulation regimens in pregnant women with prosthetic heart valves.

Subjects and methods

We performed a systematic review of the literature to determine the required levels of anticoagulation prophylaxis, timing of the introduction of oral anticoagulation and its substitution by heparins, and the maternal and fetal risks associated with different anticoagulation regimens.

Results

A target international normalized ratio (INR) of 2.5-3.5 should be achieved. Although consensus on the heparin of choice is lacking, heparin dose requirements should be based on anti-factor Xa levels (around 1.0 U/mL) or activated partial thromboplastin time (aPTT) (2-3 times control value). The risk of thrombosis in heparin-treated patients is approximately 7%, while the incidence of heparin embryopathy ranges from 1.6-7.4%. The switch from oral anticoagulation to heparin should be made no later than at weeks 35-36 of pregnancy.

Conclusions

The nticoagulation therapy of choice in the first trimester of pregnancy cannot currently be established. Prospective and randomized studies are required to determine the advisability of one treatment over the other