PDF(Pubmed)
Abstract：
Sophisticated screening protocols for genetic abnormalities constitute an important component of current prenatal care, aiming to identify high-risk pregnancies and offer appropriate counseling to parents regarding their options. Definite prenatal diagnosis is only possible by invasive prenatal diagnostic testing (IPDT), mainly including amniocentesis and chorionic villous sampling (CVS). The aim of this comparative review was to summarize and compare the existing recommendations on IPDT from the most influential guidelines. All the reviewed guidelines highlight that IPDT is indicated based on a positive screening test rather than maternal age alone. Other indications arise from medical history and sonography, with significant variations identified between the guidelines. The earlier time for amniocentesis is unequivocally set at ≥15 gestational weeks, whereas for CVS, the earlier limit varies from ≥10 to ≥11 weeks. Certain technical aspects and the overall approach demonstrate significant differences. Periprocedural management regarding Rhesus alloimmunization, virologic status and use of anesthesia or antibiotics are either inconsistent or insufficiently addressed. The synthesis of an evidence-based algorithm for IPDT is of crucial importance to healthcare professionals implicated in prenatal care to avoid unnecessary interventions without compromising optimal prenatal care.
摘要：
复杂的遗传异常筛查方案是当前产前护理的重要组成部分，旨在识别高风险怀孕，并为父母提供有关选择的适当咨询。只有通过侵入性产前诊断测试（IPDT）才能进行明确的产前诊断，主要包括羊膜穿刺术和绒毛膜绒毛取样(CVS)。这次比较审查的目的是总结和比较最有影响力的准则中关于IPDT的现有建议。所有审查的指南都强调，IPDT是基于阳性筛查测试而不是仅基于母亲年龄来指示的。其他适应症来自病史和超声检查，准则之间存在重大差异。羊膜穿刺术的较早时间明确设定在≥15孕周，而对于CVS，早期限制从≥10到≥11周不等。某些技术方面和总体方法显示出重大差异。关于恒河猴同种免疫的围手术期管理，病毒学状态和麻醉或抗生素的使用要么不一致，要么解决得不够。基于证据的IPDT算法的综合对于涉及产前护理的医疗保健专业人员至关重要，以避免不必要的干预，而不会影响最佳的产前护理。
