Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Centre, PO box 22660, 1100 DD Amsterdam, Netherlands.
Hum Reprod. 2011 Aug;26(8):1965-70. doi: 10.1093/humrep/der179. Epub 2011 Jun 10.
Couples with recurrent miscarriage (RM) have an increased risk of one of the partners carrying a structural chromosome abnormality. On the basis of four independent risk factors, an evidence-based model was developed, which allows limiting karyotyping to high-risk couples. The aim of this study was to assess the level of adoption of selective karyotyping, its clinical consequences and the factors at the patient and hospital level that determine adoption.
A retrospective cohort study was performed in nine Departments of Obstetrics and Gynaecology, the Netherlands, in 2006. Selective karyotyping was defined as offering karyotyping to high-risk couples and refraining from karyotyping in low-risk couples. Data were collected for risk factors as described in the model for selective karyotyping, cytogenetic results as a measure for clinical consequences, and information about determinants and costs.
A total of 530 couples were included; 252 (48%) high-risk couples and 278 (52%) low-risk couples. Among the high-risk couples, 186 (74%) were offered karyotyping. Although not advised, karyotyping was still performed in 198 (71%) low-risk couples. Overall, selective karyotyping was offered to 50% of the couples. The main determinants for adoption of the model were maternal age, obstetric history, treatment by specialists in RM and the number of patients per centre. If selective karyotyping was adopted adequately, a potential reduction of 34% of all karyotyping tests performed is possible.
Selective karyotyping is applied in only half of the couples with RM in daily practice. Implementation of selective karyotyping should be a topic of future research.
复发性流产(RM)的夫妇一方携带结构染色体异常的风险增加。基于四个独立的危险因素,建立了一个基于证据的模型,该模型允许将核型分析限制在高风险夫妇中。本研究的目的是评估选择性核型分析的采用程度、其临床后果以及患者和医院层面决定采用的因素。
在 2006 年,荷兰的九个妇产科部门进行了一项回顾性队列研究。选择性核型分析被定义为对高风险夫妇进行核型分析,而对低风险夫妇不进行核型分析。数据收集了模型中描述的危险因素、选择性核型分析的临床后果、以及决定因素和成本的信息。
共纳入 530 对夫妇;252 对(48%)为高风险夫妇,278 对(52%)为低风险夫妇。在高风险夫妇中,186 对(74%)接受了核型分析。尽管没有建议,但仍对 198 对(71%)低风险夫妇进行了核型分析。总体而言,50%的夫妇接受了选择性核型分析。该模型采用的主要决定因素是母亲年龄、产科史、RM 专科治疗和每个中心的患者人数。如果适当采用选择性核型分析,则有可能减少 34%的所有核型分析测试。
在日常实践中,只有一半的 RM 夫妇接受了选择性核型分析。选择性核型分析的实施应该是未来研究的一个课题。