Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Palomaki, Glenn E.; Ashwood, Edward R.; Best, Robert G.; Lambert-Messerlian, Geralyn; Knight, George J.

doi:10.1038/gim.2015.39

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…Given that such a program has now been shown to be feasible, laboratories must strive to offer affordable cfDNA sequencing that third-party payers could routinely cover in order to improve access to better aneuploidy screening for the more than 2 million pregnant women in the United States currently choosing prenatal screening for Down syndrome. 42 …”

Section: Discussionmentioning

confidence: 99%

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

Palomaki

Kloza

O’Brien

et al. 2017

Genetics in Medicine

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Objective:To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population.Methods:Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment.Results:Between September 2014 and July 2015, 72 providers screened 2,691 women. The five largest participating practices increased uptake by 8 to 40%. Among 2,681 reports, 16 women (0.6%) were screen-positive for trisomy 21, 18, or 13; all saw genetic professionals. Twelve were confirmed (positive predictive value (PPV), 75%; 95% CI, 48–93%) and four were false-positives (0.15%). Of 150 failures (5.6%), 79% had a negative serum or subsequent cfDNA test; no aneuploidies were identified. Of 100 women surveyed, 99 understood that testing was optional, 96 had their questions answered, and 95 received sufficient information. Pretest information was provided by the physician/certified nurse midwife (55) or office nurse/educator (40); none was provided by genetic professionals.Conclusion:This first clinical utility study of cfDNA screening found higher uptake rates, patient understanding of basic concepts, and easy incorporation into routine obstetrical practices. There were no reported cases of aneuploidy among cfDNA test failures.Genet Med advance online publication 12 January 2017

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Section: Discussionmentioning

confidence: 99%

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

Palomaki

Kloza

O’Brien

et al. 2017

Genetics in Medicine

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“…The current study shows that prenatal cfDNA‐based screening for common trisomies in the US is concentrated in perhaps 20 or so active and reporting laboratories. This can be compared to the 131 US‐based serum screening laboratories less than a decade ago 10 and 301 US‐based laboratories 3 decades ago 8 . It is likely that cfDNA‐based screening could entirely replace serum screening for common trisomies in the near future.…”

Section: Discussionmentioning

confidence: 99%

“…This represented 63% of annual births. In 2011 and 2014, 10 College of American Pathologists survey found the number of serum‐based prenatal screening laboratories had dropped to 131, but 2,963,592 (67%) of all pregnancies received serum screening for Down syndrome. By 2020, the number of laboratories had dropped further, with only 56 laboratories screening 1,131,336 pregnancies via maternal serum 11 .…”

Section: Introductionmentioning

confidence: 99%

Numbers of prenatal cell‐free DNA screens performed: Results of a 2022 CAP exercise

Palomaki,

Wyatt,

Rowsey

et al. 2024

Prenatal Diagnosis

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ObjectiveDetermine current analytical methods and number of cell‐free (cf) DNA prenatal screening tests performed for common trisomies.MethodsThe College of American Pathologists 2022‐B Noninvasive Prenatal Testing exercise was distributed in December 2022 to 93 participants in 22 countries. Supplemental questions included the number of tests performed in a recent month and the proportion of samples originating outside the United States (US).ResultsEighty‐three participants from three continents returned results; 74 (89%) were suitable for the analyses. Nine manufacturer/platform combinations were identified, most commonly Illumina/Nextseq (55%). The most common methodology was whole genome sequencing (76%). Annualized cfDNA tests were 2.80 million, with Asian, European and North American participants representing 10.6%, 6.5% and 82.9% of tests, respectively. When restricted to US in‐country tests, the annualized rate was 2.18 million, with four of 20 participants testing 79.2%. Among 73 respondents, 63 (86%) were for‐profit, eight (11%) were non‐profit academic or government supported and the remaining two included hospital‐based and private non‐profit. Eighteen (25%) supported relevant academic training.ConclusionIn 2011, screening for common trisomies was based on serum/ultrasound markers with an estimated 2.96 million US pregnancies screened in 131 laboratories. In 2022, cfDNA‐based screening was offered by 20 laboratories testing 2.18 million US pregnancies.

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“…The College of American Pathologists (CAP) Maternal Screening subgroup of the Biochemical and Molecular Genetics Committee reviewed external proficiency testing surveys and exercises, compiled the utilization data from the first survey of 2020, and compared those results to utilization data from the 2012 survey. 16 The aim is to document potential changes in the numbers of active laboratories, their testing volumes, as well as the types of testing offered (e.g., first trimester, second trimester).…”

Section: Introductionmentioning

confidence: 99%

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020

et al. 2021

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Objective 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. Setting The College of American Pathologists maternal screening proficiency testing survey includes a supplemental question on the first of three yearly distributions. Methods 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. Results 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. Conclusions 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.

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Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Cited by 4 publications

References 13 publications

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

Numbers of prenatal cell‐free DNA screens performed: Results of a 2022 CAP exercise

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020

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