目的:探讨产前筛查滤纸干血片标本保存时间和保存条件对AFP、Free β-HCG检测结果的影响.方法:采集50例孕妇血样,每例均制备两份滤纸干血片标本,每一份上面包括3个血斑.一组2℃～ 8℃冷藏;另一组室温20℃～ 25℃保存.分别在保存第2d、7d、14d时,用TALENT-Ⅱ半自动时间分辨荧光免疫分析仪检测AFP、Free β-HCG.结果:室温组和冷藏组在2d、7d、14d AFP和Free β-HCG检测结果比较,差异无统计学意义,AFP和Free β-HCG冷藏组在2d、7d、14d的结果差异无统计学意义.AFP和Free β-HCG室温组在2d、7d、14d的结果差异无统计学意义.结论:滤纸干血片标本在冷藏2℃～8℃、室温20℃～25℃均可稳定保存至14d.开展筛查时应注重标本保存条件和运输时间,确保标本质量和筛查结果的准确性.

Objective Using new-generation sequencing(NGS) technology to detect the chromosome aneuploidy and copy number variations(CNVs) in missed abortion chorionic villi, and analyzing its correlation with missed abortion. Methods We developed a NGS-based method to detect aneuploidy and CNVs using low-coverage whole-genome sequencing and PSCC algorithm. To validate the method, a total of 20 cases of spontaneously abortion chorionic villi were tested by the NGS method, and compared to results of G-banding. And then, 83 missed abortion chorionic villi were collected in 2015. NGS technology were used to detect the chromosome aneuploidies and CNVs, and the test results were analyzed. Results In clinical application of the NGS-based method, chromosome abnormalities were found in 78 cases (abnormal rate was 93.98％), in which 44 cases with aneuploidy(56.41％) and 34 cases with CNVs(43.59％) were identified.Trisomy 16, 22, 21, X, 15 were the most common aneuploidies. The frequency of aneuploidy in women aged ≥35 years old(78.8％), was higher than that in women aged <35 yesrs old (36％) (P＜0.05), the difference was statistically significant. Conclusion NGS technology is more sensitive than traditional karyotype analysis in detection the chromosomal karyotypes of the variation of copy-number, and it has clinical significance of guidance.

目的 常规胎儿超声筛查提示胎儿结构畸形和软指标异常者,行羊水细胞染色体核型分析,研究胎儿结构畸形和超声软指标与染色体异常的相关性.方法 选取2013年7月～2015年4月于宁夏医科大学总医院就诊的孕期Ⅲ级B超提示胎儿异常的患者258例,对孕妇进行羊水细胞染色体核型分析.结果 258例超声筛查异常者,单项软指标发生率为39.53％,多项超声软指标发生率为16.67％,超声结构畸形及合并存在者发生率为41.09％;进一步行羊水细胞核型分析,其中有12例染色体异常,百分比为4.65％.结论 超声软指标及结构畸形提示胎儿染色体异常风险增加,特别是长骨短小、侧脑室增宽及单脐动脉时应积极进行各个系统的检查并及时进行染色体核型分析.

中晚孕期胎儿超声心动图检查作为产前超声检查的重要措施已被广泛用于临床,而先天性心脏病的尽早检出有助于及早采取干预措施,具有重要的临床意义.本研究旨在测量并分析妊娠11～13+6周正常胎儿房室瓣、静脉导管的血流频谱参数,建立95％参考值范围,为早孕期筛查胎儿先天性心脏病及相关异常提供一定理的论依据.

目的 探讨医学生无聊倾向性与心理健康间的关系及社会支持的调节作用,为医学生无聊情绪的干预研究提供线索.方法 采用分层整群抽样方法,从宁夏医科大学随机抽取1 667名学生进行问卷调查.结果 医学生无聊倾向性的创造力因子与心理健康的敌对、偏执因子相关无统计学意义(P值均＞0.05),与其他因子均呈正相关(P值均＜0.01);无聊倾向性总分和其余各因子与心理健康总分及其他各因子之间均呈正相关(P值均＜0.01);社会支持总分和各维度与心理健康总分以及各因子之间呈负相关(P值均＜0.05).外部刺激、孤独感、自控力和单调性4个变量能联合预测心理健康35.1％的变异量;社会支持对医学生无聊倾向性和心理健康之间的调节效应显著.结论 医学生无聊倾向性与心理健康之间关系密切,社会支持在无聊倾向性与心理健康之间起着重要的调节作用.

目的探讨妊娠期肝内胆汁淤积症病人的护理。方法对我院2007年10月-2008年10月收治的5例妊娠期肝内胆汁淤积症病人进行回顾分析,总结其围产期的护理。结果 5例病人全部是足月妊娠,均剖宫产结束妊娠,围产儿均存活。结论通过加强对妊娠期肝内胆汁淤积症病人的护理,有效的临床治疗措施,医护间的积极配合,真诚地护患交流和支持,使早产率、产后出血率以及围产儿死亡率得到了明显降低。

为研究不良孕产夫妇染色体着丝粒-动粒复合体(centromere kinetochore complex,CKC)变异与不良孕产的相关性,探索不良孕产中非整倍体形成的细胞遗传学基础,应用改良的着丝粒点-核仁组织区(Cd-NOR)同步银染技术,分别对53对不明原因的不良孕产夫妇和57对已生育正常儿的正常夫妇外周血淋巴细胞染色体CKC变异类型及频率进行研究和分析.结果发现,不良孕产夫妇其小Cd、Cd消失、Cd迟滞和Cd-NOR融合频率均较正常对照组明显增高,两者相比有显著性差异(P＜0.05).CKC变异频率增高可能是导致不良孕产非整倍体形成的主要原因之一.

Objective: To search the regular pattern of NOR (nuclear organizer region) rRNA gene activity in couples with adverse pregnancy. Methods: Ag-NOR numbers of couples with adverse pregnancy and of controls were analysed by using the chromosomal Ag-NOR technique. Results: The mean of Ag-NOR number per cell of the two groups was 7 2150±0 5438、6 8596±0 5965 respectively, the difference between them was statistically significant P0 05. Conclusion: The higher activity of NOR rRNA gene may be the main reason for causing adverse pregnancy by increasing the frequency of SA and influencing the function of centromere kinetochore complex.