Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.

Autor: Palomaki GE; Department of Pathology and Laboratory Medicine, Women & Infants Hospital and the Alpert Medical School at Brown University, Providence, RI, USA. gpalomaki@ipmms.org., Wyatt P; Esoterix Genetic Laboratories, Santa Fe, NM, USA., Best RG; Biomedical Sciences, University of South Carolina School of Medicine/Prisma Health System, Greenville, SC, USA., Lepage N; Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Ashwood ER; University of Colorado Hospital, Anschutz Medical Campus, Aurora, CO, USA., Souers RJ; Department of Biostatistics, College of American Pathologists, Northfield, IL, USA., Thorson JA; Department of Pathology, University of California San Diego Health, La Jolla, CA, USA.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 777-784. Date of Electronic Publication: 2020 Jan 13.
DOI: 10.1038/s41436-019-0718-4
Abstrakt: Purpose: Summarize and interpret results from exercises distributed to laboratories offering cell-free (cf) DNA screening for Down syndrome.
Methods: The College of American Pathologists distributed three patient-derived plasma specimens twice in 2018. Sequencing platforms, test methods, results, and responses to supplemental questions were collected. Results were not graded but discrepancies were identified.
Results: Sixty-five laboratories from six continents enrolled; six provided no results. The most common methodology was shotgun/genome sequencing (39/56, 70%). Overall, 40% of the gestational or maternal age responses were incorrect but 45% of the errors were corrected by the next distribution. Fetal fractions from 54 responding laboratories generally agreed with the intended response. No genotyping errors occurred (40/40 for trisomy 21 and 226/226 for euploid challenges) but 10 additional tests failed (3.6%). All 213 fetal sex calls were correct. Participants reported their clinical text for a Down syndrome screen positive test; 39% were classified as inadequate or misleading.
Conclusion: Patient-derived materials are suitable for all enrolled technologies/methodologies, but collecting material is challenging. Suggested clinical text includes the terms "screen positive" and "screen negative." Overall, laboratories performed well. Future efforts will focus on potential manufactured samples, clarifying results reporting and including additional chromosome abnormalities.
Databáze: MEDLINE
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