Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada.
Women's Health and Genetics, 364534LabCorp, LabCorp, Santa Fe, NM, USA.
J Med Screen. 2021 Dec;28(4):405-410. doi: 10.1177/09691413211031610. Epub 2021 Jul 19.
To compile current usage of serum-based prenatal screening for Down syndrome in the United States and compare it with results from a similar 2011/2012 survey.
The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions.
Information regarding tests offered and the monthly number of pregnancies tested for US-based laboratories were reviewed. Results were stratified by size of laboratory, tests offered, and pregnancies tested. Findings were compared to an earlier survey.
Fifty-six laboratories reported they will have screened 1,131,336 pregnancies in 2020. Of these, 36% are screened by stand-alone first trimester testing, 48% by stand-alone second trimester testing, and 16% using tests that integrate results from both trimesters. Eighty percent of all serum screens were provided by the five laboratories that performed the most screens (at least 50,000). These five performed similar proportions of first or second trimester screens (42.2% and 41.8%, respectively). Compared to eight years earlier, there are now 54% fewer laboratories. Pregnancies screened using the first trimester, second trimester, and integrated protocols were lower by 27%, 69%, and 72%, respectively. The serum screening activity in the US showed a 62% decrease from 2012 levels. During 2012-2020, the number of cell-free DNA tests increased from negligible to 1,492,332.
Maternal serum screening for common aneuploidies has changed significantly in eight years with fewer laboratories, a shift toward larger laboratories and a 2.5-fold reduction in pregnancies tested, likely due to the introduction of cell-free DNA screening.
编译美国目前用于唐氏综合征的基于血清的产前筛查的使用情况，并将其与 2011/2012 年的类似调查结果进行比较。
美国病理学家学院（College of American Pathologists）的母体筛查能力验证调查包括在每年三次的首次分发中增加一个补充问题。
对美国实验室提供的检测项目和每月检测的妊娠数量进行了审查。结果按实验室规模、提供的检测项目和检测的妊娠数量进行分层。将调查结果与之前的调查进行比较。
56 家实验室报告称，2020 年他们将筛查 1,131,336 例妊娠。其中，36%通过独立的第一孕期检测进行筛查，48%通过独立的第二孕期检测进行筛查，16%通过整合两个孕期检测结果的检测进行筛查。所有血清筛查的 80%是由五家进行最多筛查的实验室（至少 50,000 例）提供的。这五家实验室的第一或第二孕期筛查比例相似（分别为 42.2%和 41.8%）。与八年前相比，现在的实验室数量减少了 54%。使用第一孕期、第二孕期和整合方案进行筛查的妊娠数量分别下降了 27%、69%和 72%。美国的血清筛查活动从 2012 年的水平下降了 62%。在 2012-2020 年期间，游离细胞 DNA 检测的数量从微不足道增加到 1,492,332。
在八年的时间里，由于实验室数量减少、向更大的实验室转移以及接受检测的妊娠数量减少了 2.5 倍，用于常见非整倍体的母体血清筛查发生了重大变化，这可能是由于游离细胞 DNA 筛查的引入。
