Palomaki Glenn E, Ashwood Edward R, Best Robert G, Lambert-Messerlian Geralyn, Knight George J
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Genet Med. 2015 Nov;17(11):897-900. doi: 10.1038/gim.2015.39. Epub 2015 Apr 2.
We sought to determine whether tests for fetal aneuploidy based on next-generation sequencing of cell-free DNA in maternal circulation have had an impact on routine serum-based screening in the general pregnant population.
We compared results from laboratory surveys in 2011 and 2014 that reported types of prenatal serum screening tests and numbers of tests performed. Testing records from two prenatal serum screening laboratories examined temporal trends in the proportion of screened women 35 years of age and older from 2008 (or 2009) to 2014.
The 82 laboratory survey results available for comparison showed that 1.7 million women were screened in 2014, a 5% increase over 2011. In the two screening laboratories, the proportion of screened women age 35 and older increased for several years but then experienced reductions of 8 and 18% by mid-2014 when compared with the highest rates observed.
As of 2014, maternal plasma DNA testing appears to have had only a minor impact on serum screening rates in the United States. Ongoing surveillance has the potential to determine if, and when, DNA testing begins to replace serum testing as a primary screen for Down syndrome in the United States.
我们试图确定基于孕妇循环中游离DNA的下一代测序进行的胎儿非整倍体检测是否对普通孕妇群体的常规血清学筛查产生了影响。
我们比较了2011年和2014年实验室调查的结果，这些结果报告了产前血清学筛查检测的类型和检测数量。来自两个产前血清学筛查实验室的检测记录研究了2008年（或2009年）至2014年35岁及以上受筛查女性比例的时间趋势。
可用于比较的82份实验室调查结果显示，2014年有170万女性接受了筛查，比2011年增加了5%。在这两个筛查实验室中，35岁及以上受筛查女性的比例连续数年上升，但到2014年年中，与观察到的最高比例相比，分别下降了8%和18%。
截至2014年，孕妇血浆DNA检测似乎对美国的血清学筛查率影响较小。持续监测有可能确定在美国DNA检测是否以及何时开始取代血清学检测作为唐氏综合征的主要筛查方法。
