Hui Lisa, Halliday Jane
Reproductive Epidemiology Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Obstetrics and Gynaecology, University of Melbourne, Melbourne, Victoria, Australia.
Aust N Z J Obstet Gynaecol. 2023 Apr;63(2):264-267. doi: 10.1111/ajo.13638. Epub 2022 Dec 18.
Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell-free DNA-based non-invasive prenatal testing (NIPT) became a new self-funded option primarily for Down syndrome screening, but also other aneuploidies and genetic conditions. The numbers of Medicare item claims for prenatal diagnostic procedures have halved since the introduction of NIPT, while billings for serum screening fell by 40% over the same period, on a background of steady births. Australia is now observing historically low rates of prenatal diagnostic testing. These data provide an informative snapshot of historic changes in prenatal screening and diagnosis, as our sector prepares for the impending impacts of other advances in genomics on maternity care. They also highlight the need to address equity and quality issues that arise when consumers must bear the full costs of improved genomic tests in the absence of Medicare funding.
在过去二十年中，非整倍体的产前筛查发生了巨大变化。2013年，基于游离DNA的无创产前检测（NIPT）成为一种新的自费选择，主要用于唐氏综合征筛查，也可用于其他非整倍体和遗传疾病的筛查。自NIPT推出以来，医疗保险项目中产前诊断程序的报销申请数量减半，而同期血清筛查的费用下降了40%，且出生人数保持稳定。澳大利亚目前的产前诊断检测率处于历史低位。这些数据为产前筛查和诊断的历史性变化提供了一个信息丰富的快照，因为我们的行业正在为基因组学的其他进展对孕产妇护理即将产生的影响做准备。它们还凸显了在没有医疗保险资金的情况下，消费者必须承担改进后的基因组检测全部费用时，解决公平和质量问题的必要性。
