m+Medelevator.RU
← Поиск публикаций
Prenatal diagnosis · 2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Duquenne Armelle, Brison Nathalie, Parijs Ilse, Pagliazzi Angelica, Baetens Machteld, Blaumeiser Bettina, Bruneau Marie, Bulk Saskia, Callewaert Bert, Coppens Sandra, Deberg Michelle, Leener Anne De, Rademaeker Marjan De, Désir Julie, Devriendt Koenraad, Fieuw Annelies, Gatot Jean-Stéphane, Jamar Mauricette, Janssens Sandra, Lannoo Lore, Marichal Axel, Menten Björn, Meunier Colombine, Pichon Bruno, Rombout Sonia, Slegers Ileen, Sznajer Yves, Vanakker Olivier, Van Berkel Kim, Vancoillie Leen, Bogaert Ann Van Den, Vandernoot Isabelle, Bogaert Kris Van Den, Vermeesch Joris R, Janssens Katrien

Аннотация

OBJECTIVE: Prenatal cell-free DNA screening is widely used to assess the risk of fetal trisomy 21, 18, and 13. Although commercial and laboratory-developed tests (LDTs) show high accuracy in validation studies, real-world longitudinal performance data are lacking.

METHOD: In Belgium, prenatal cell-free DNA screening is a population screening offered to all pregnant people, regardless of their a priori risk. Over 3 years, all confirmatory diagnostic tests after a positive prenatal cell-free DNA screening result were recorded along with the technologies used and their outcomes. Positive predictive values (PPVs) for the three common fetal trisomies were calculated per technology.

RESULTS: A total of 1158 diagnostic tests were performed after a positive prenatal cell-free DNA screening. Of these, 58.5% came from an LDT, 15.7% from VeriSeq (Illumina), 6.6% from Harmony (Roche), 5% from Vanadis (Perkin-Elmer); for 14.2% the technology could not be traced. PPVs ranged from 92.2% to 65.7% for trisomy 21, from 82.8% to 44.4% for trisomy 18, and from 40% to 18.2% for trisomy 13. Overall, the LDT performed better than the commercial tests.

CONCLUSION: This study confirms the reported accuracy of commercial tests and LDT, while showing that LDT generally outperforms commercial tests. Despite high specificities across tests, differences in PPVs significantly impact pregnant people and the national health care system.

Предметные рубрики MeSH

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты