Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Vic., Australia.
Department of Perinatal Medicine, The Mercy Hospital for Women, Heidelberg, Vic., Australia.
BJOG. 2016 Jan;123(1):90-7. doi: 10.1111/1471-0528.13488. Epub 2015 Jun 25.
To analyse population-based trends over the entire history of prenatal testing for aneuploidy.
Retrospective analysis of state-wide data sets.
Australian state of Victoria with ~70 000 annual births.
All pregnant women undergoing invasive prenatal testing at <25 weeks' gestation from 1976 to 2013.
Analysis of three state-wide data sets: (1) Prenatal diagnosis data set of 119 404 amniocenteses and chorionic villus samplings from 1976 to 2013; (2) central serum screening laboratory data set from 1996 to 2013; (3) government birth statistics from 1976 to 2013.
Annual numbers and uptake rates of invasive prenatal tests and serum screening, indications for invasive prenatal testing, prenatal diagnoses of aneuploidy, diagnostic yield of invasive tests.
Annual numbers of invasive prenatal tests climbed steadily from 1976, then declined from 2000. In 2013, the number of invasive prenatal tests was the lowest in 25 years, while the number of trisomy 21 diagnoses was the highest ever recorded. Annual uptake of serum screening climbed from 1.6 to 83% over 1996-2013. Results from 2013 showed a high diagnostic yield (15.8%) for a low rate of invasive testing (3.4% of births). Over four decades, the number of invasive procedures performed for each diagnosis of major chromosome abnormality declined from 100 to six.
This study demonstrates historic reductions in the proportion of women undergoing invasive testing and dramatic improvements in diagnostic yield. Monitoring the impact of new prenatal technologies on this progress remains an important research priority.
Invasive prenatal testing has reached historic lows due to dramatic improvements in Down syndrome screening.
分析整个产前非整倍体检测历史上的人群趋势。
对全州范围内数据集的回顾性分析。
澳大利亚维多利亚州，每年约有 70000 名婴儿出生。
1976 年至 2013 年间，所有在<25 周妊娠时接受侵入性产前检测的孕妇。
分析三个全州范围内的数据集：（1）1976 年至 2013 年的 119404 例羊膜穿刺术和绒毛膜活检的产前诊断数据集；（2）1996 年至 2013 年的中央血清筛查实验室数据集；（3）1976 年至 2013 年的政府出生统计数据集。
侵入性产前检测和血清筛查的年度数量和采用率、侵入性产前检测的适应证、非整倍体的产前诊断、侵入性检测的诊断率。
1976 年以来，侵入性产前检测的年度数量稳步攀升，随后从 2000 年开始下降。2013 年，侵入性产前检测的数量是 25 年来的最低水平，而 21 三体的诊断数量则是有史以来最高的。1996 年至 2013 年期间，血清筛查的年度采用率从 1.6%上升到 83%。2013 年的结果显示，低侵入性检测率（占出生人数的 3.4%）下诊断率较高（15.8%）。在过去的四十年中，每例主要染色体异常诊断所需的侵入性操作数量从 100 例减少到 6 例。
本研究表明，接受侵入性检测的妇女比例呈历史性下降，诊断率显著提高。监测新的产前技术对这一进展的影响仍然是一个重要的研究重点。
由于唐氏综合征筛查的显著改善，侵入性产前检测已达到历史最低点。
