产前遗传学诊断技术的规范化应用OA

Prenatal genetic diagnostic technologies have now formed a system consisting of karyotyping,fluores-cence in situ hybridization(FISH),chromosomal microar-ray analysis(CMA)and copy number variation sequencing(CNV-seq),as well as whole exome sequencing(WES),whole genome sequencing(WGS)and optical genome mapping(OGM).Each technology differs in its diagnostic target and intrinsic blind spots,and a higher resolution does not translate into a proportional increase in clinical di-agnostic value.Currently,there are such issues as indica-tion creep,technology escalation beyond the evidence-sup-ported tier,bundled ordering of multiple tests and exces-sive reporting of variants of uncertain significance(VUS)in prenatal diagnostic practice in China.This article sys-tematically reviews the diagnostic targets,effectiveness and limitations of the available prenatal genetic detection tech-nologies,analyzes the main manifestations and costs of overuse,proposes a selection principle centred on pheno-type-driven,indication-stratified and tier-matched test-ing,and puts forward recommendations for standardizing pre-and post-testing genetic counselling,with the aim of providing a reference for the standardized clinical applica-tion of prenatal genetic diagnostic technologies.