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首页> 外文期刊>Expert opinion on biological therapy >Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom
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Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

机译：在英国使用无细胞胎儿DNA进行非侵入性产前胎儿性别确定

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Introduction: Fetal sex determination has traditionally been performed in pregnancies at risk of sex-linked genetic conditions by analysis of chorionic villi or amniocytes following invasive tests. The development of noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA in maternal plasma has allowed women to have accurate information about fetal sex early in pregnancy without the risk of miscarriage.Areas covered: In the UK, NIPD for fetal sex determination has been offered on a research basis since 2003. Formal approval and regulation through national bodies is essential to ensure standardized laboratory services, appropriate funding and equity of access for service users. Here we describe the process of formal commissioning that has been supported by a multifaceted approach to service evaluation, including appraisal of analytical and clinical validity, clinical utility and economic costs together with an exploration of service users' and providers' attitudes, preferences and information needs. Expert opinion: Implementation strategies that reach beyond the assessment of laboratory test parameters to consider psychosocial and economic issues have been crucial in bringing NIPD for fetal sex determination into routine practice. Ongoing audit and monitoring of service delivery will ensure a high standard of care is maintained.
机译：简介：传统上，在有性相关遗传病风险的怀孕中，通过侵入性试验后对绒毛膜或羊膜细胞进行分析来确定胎儿性别。在母体血浆中使用无细胞胎儿DNA进行无创性产前诊断（NIPD）的发展使妇女能够在怀孕初期获得有关胎儿性别的准确信息，而没有流产的风险。自2003年以来一直以研究为基础提供服务。国家机构的正式批准和监管对于确保标准化的实验室服务，适当的资金以及服务使用者的使用权公平至关重要。在这里，我们描述了正式的调试过程，该过程已经得到了服务评估的多方面方法的支持，包括评估分析和临床有效性，临床效用和经济成本，并探索了服务用户和提供者的态度，偏好和信息需求。专家意见：超出实验室测试参数评估范围以考虑社会心理和经济问题的实施策略对于将NIPD用于确定胎儿性别的常规实践至关重要。正在进行的对服务交付的审核和监控将确保维持高水平的护理。

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