Third Department of Obstetrics and Gynaecology, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, 541 24 Thessaloniki, Greece.
Access to Genome-ATG, Clinical Laboratory Genetics, 551 34 Thessaloniki, Greece.
Medicina (Kaunas). 2022 Oct 17;58(10):1472. doi: 10.3390/medicina58101472.
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.
复杂的遗传异常筛查方案是当前产前护理的一个重要组成部分，旨在识别高风险妊娠，并就各种选择为父母提供适当的咨询。只有通过有创性产前诊断检测（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取样（CVS）。本综述比较研究的目的是总结和比较最有影响力的指南中关于 IPDT 的现有建议。所有审查的指南都强调，IPDT 是基于阳性筛查试验而不仅仅是母亲年龄来指示的。其他适应症源于病史和超声检查，指南之间存在明显差异。羊膜穿刺术的较早时间明确设定为≥15 孕周，而对于 CVS，较早的限制范围从≥10 周至≥11 周。某些技术方面和总体方法存在显著差异。关于 Rh 同种免疫、病毒学状态以及麻醉或抗生素使用的围手术期管理要么不一致，要么没有充分解决。制定基于证据的 IPDT 算法对于参与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，同时又不影响最佳产前护理。
