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

Glenn E Palomaki; Philip Wyatt; Ross Rowsey; Phillip Michael Cacheris; Nathalie Lepage; Marvin R Natowicz; Thomas Long; Ann M Moyer

doi:10.1002/pd.6574

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

Prenat Diagn. 2024 Apr 15. doi: 10.1002/pd.6574. Online ahead of print.

Authors

Glenn E Palomaki¹, Philip Wyatt², Ross Rowsey³, Phillip Michael Cacheris⁴, Nathalie Lepage⁵, Marvin R Natowicz⁶, Thomas Long⁷, Ann M Moyer³

Affiliations

¹ Department of Pathology and Laboratory Medicine, Alpert Medical School at Brown University, Women & Infants Hospital of RI, Providence, Rhode Island, USA.
² Esoterix Genetic Laboratories, Santa Fe, New Mexico, USA.
³ Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
⁴ Sequenom Laboratories, San Diego, California, USA.
⁵ Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
⁶ Pathology and Laboratory Medicine, Genomic Medicine, Neurology and Pediatrics Institutes, Cleveland Clinic, Cleveland, Ohio, USA.
⁷ Department of Biostatistics, College of American Pathologists, Northfield, Illinois, USA.

PMID: 38622635
DOI: 10.1002/pd.6574

Abstract

Objective: Determine current analytical methods and number of cell-free (cf) DNA prenatal screening tests performed for common trisomies.

Methods: The 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).

Results: Eighty-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.

Conclusion: In 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.