基因组拷贝数变异测序与染色体核型分析在胎儿遗传学诊断中的比较

目的比较基因组拷贝数变异测序(CNV-seq)技术和染色体核型分析和在产前胎儿遗传学诊断中的应用价值。方法收集来我院有产前诊断指征进行羊水穿刺的259例孕妇,取材后,送检染色体核型分析和CNV-seq,比较两种方法在产前诊断中的优缺点。结果259例标本中,共诊断异常染色体核型及微缺失微重复23例,总阳性诊断率8.88%(23/259),CNV-seq结果显示,共有22例染色体拷贝数异常(12例三体+9例微缺失微重复+1例三倍体),检出率为8.49%;染色体核型分析结果显示为:17例染色体异常(12例三体+3例结构异常+1例嵌合型+1例三倍体),检出率为6.56%。此外还检出染色体多态7例。结论CNV-seq与染色体核型分析对于染色体非整倍体的检测效力一致,CNV-seq能检测染色体微缺失微重复,染色体核型分析则能诊断出三体具体核型,在怀疑性染色体异常时,建议行两者联合检测。     

医患共同决策在慢性肾衰竭治疗中的应用现状

医患共同决策模式在全世界得到了广泛认同和重视。应用共同决策模式能够提高患者对疾病的认知、提高患者的依从性和满意度、改善治疗结局、缓解医患关系并控制医疗花费。本文对共同决策在慢性肾衰竭治疗决策领域的应用现状做一介绍,分析中国在慢性肾衰竭诊疗过程中实施共同决策的挑战并给出建议,以帮助更多肾脏内科医务工作者认识并参与和实践共同决策,实现以患者为中心的医疗服务理念。     

The efficacy of interventions aimed at improving post-partum bonding: A review of interventions addressing parent-infant bonding in healthy and at risk populations

Parent-infant bonding during the postpartum period allows babies to start establishing a relationship with their parents from birth, and it also plays an important role in child development. As the failure to building a close and positive bond is typically associated with poorer neuropsychological, behavioural, emotional, and social development from infancy to adulthood, early interventions that support parent-infant bonding seem particularly important. This review aims to determine and describe the effectiveness of interventions addressing parent-infant bonding during the postpartum period. Papers that were published between 2007 and 2017, written in English, and focused on an intervention aimed at improving postpartum parent-infant bonding were identified and assessed, concerning their eligibility for inclusion; thirteen such interventions met inclusion criteria and analysed. These studies addressed parent-infant bonding interventions, both in normative and at-risk situations, relative to both parents and their babies, and evaluated the impact of different strategies, such as educational and behavioural programs, psychosocial interventions, programs providing instruction in specific techniques, and interventions based on neurostimulation techniques. The heterogeneous methodologies employed by the various studies failed to enable us to pursue deep comparative analyses across our findings; this reflects a limitation that must be considered in further research aimed at implementing and evaluating future interventions.