Institut für Medizinische Genetik und Pathologie and Departement Klinische Forschung, Universitätsspital Basel, Basel, Switzerland.
Institut für Medizinische Genetik und Pathologie, Universitätsspital Basel, Basel, Switzerland.
J Perinat Med. 2021 Jul 1;49(8):1003-1010. doi: 10.1515/jpm-2021-0220. Print 2021 Oct 26.
New genomic laboratory technology namely microarrays and high throughput sequencing (HTS) as well as a steady progress in sonographic image capture and processing have changed the practice of prenatal diagnosis during the last decade fundamentally. Pregnancies at high risk for common trisomies are reliably identified by non-invasive prenatal testing (NIPT) and expert sonography has greatly improved the assessment of the fetal phenotype. Preconceptional comprehensive carrier screening using HTS is available for all parents, if they should wish to do so. A definite fetal diagnosis, however, will still require invasive testing for most conditions. Chromosomal microarrays (CMA) have greatly enhanced the resolution in the detection of chromosome anomalies and other causal copy number variations (CNV). Gene panel or whole exome sequencing (WES) is becoming the routine follow up of many anomalies detected by ultrasound after CNVs have been excluded. The benefits and limitations of the various screening as well as diagnostic options are perceived as complex by many who find it challenging to cope with the need for immediate choices. The communication of facts to ensure an informed decision making is obviously a growing challenge with the advent of the new genomic testing options. This contribution provides an overview of the current practice and policies in Switzerland.
新的基因组实验室技术，如微阵列和高通量测序（HTS），以及超声图像采集和处理的稳步进展，在过去十年中从根本上改变了产前诊断的实践。通过非侵入性产前检测（NIPT）可靠地识别出常见三体风险的妊娠，专家超声大大提高了对胎儿表型的评估。如果父母愿意，使用 HTS 进行孕前综合携带者筛查是可行的。然而，对于大多数情况，仍然需要进行有创性测试才能做出明确的胎儿诊断。染色体微阵列（CMA）大大提高了检测染色体异常和其他因果拷贝数变异（CNV）的分辨率。在排除 CNV 后，对超声检测到的许多异常进行基因面板或全外显子组测序（WES）已成为常规的后续检测。由于许多人认为需要立即做出选择，因此各种筛查和诊断选项的利弊被认为很复杂。随着新的基因组检测选择的出现，确保知情决策的信息传达显然是一个日益严峻的挑战。本贡献概述了瑞士当前的实践和政策。
