Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population

التفاصيل البيبلوغرافية
العنوان: Evaluation of repeat testing of a non‐sequencing based NIPT test on a Finnish general‐risk population
المؤلفون: Lawrence Prensky, Jenny Dahlberg, Helena Moilanen, Tarja Ahola, Filip Karlsson, H. Spalding
المصدر: Acta Obstetricia et Gynecologica Scandinavica
بيانات النشر: Wiley, 2021.
سنة النشر: 2021
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Trisomy 13 Syndrome, Test failure, Repeat testing, Population, Sample (statistics), Physical examination, Vanadis, Young Adult, 03 medical and health sciences, non‐invasive prenatal testing, 0302 clinical medicine, non‐invasive prenatal screening, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Genetic Testing, Original Research Article, 030212 general & internal medicine, Diagnostic Errors, education, cell‐free DNA, Finland, education.field_of_study, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, prenatal testing, test failure, Obstetrics and Gynecology, Failure rate, General Medicine, Test (assessment), Cell-free fetal DNA, prenatal screening, Female, business, Trisomy 18 Syndrome
الوصف: Introduction To evaluate the effect of repeating test failures using an automated, non‐sequencing based non‐invasive prenatal testing test on a general‐risk population in Finland. Material and Methods A total of 545 samples from women who represent the average‐risk population in Oulu, Finland were analyzed with Vanadis® non‐invasive prenatal testing. Repeat testing of test failures was performed using a second sample. Results before and after repeat testing were compared with the reference outcome, as determined by clinical examination of neonates. Results There were eight test failures after first‐pass analysis, representing 1.5% of samples (95% CI 0.6%‐2.9%). Seven out of eight failures could be resolved by analysis of a second sample, thereby reducing the test failure rate from 1.5% to 0.2% (95% CI 0.0%‐1.0%). Conclusions Repeating test failures with a second plasma sample could significantly reduce the effective failure rate, thereby providing a way to effectively minimize test failures and further improving clinical utility and test performance.
تدمد: 1600-0412
0001-6349
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e746b287d0f8e2dbf2a252df40847cbfTest
https://doi.org/10.1111/aogs.14125Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....e746b287d0f8e2dbf2a252df40847cbf
قاعدة البيانات: OpenAIRE