A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technology.

cfDNA non-invasive prenatal screening (NIPS) non-invasive prenatal testing (NIPT) plasma to library express technology (PLET)

Journal

Clinical chemistry and laboratory medicine
ISSN: 1437-4331
Titre abrégé: Clin Chem Lab Med
Pays: Germany
ID NLM: 9806306

Informations de publication

Date de publication:
25 05 2023
Historique:
received: 23 03 2022
accepted: 12 12 2022
medline: 24 4 2023
pubmed: 30 1 2023
entrez: 29 1 2023
Statut: epublish

Résumé

This study aims to develop a novel library preparation method, plasma to library express technology (PLET), to construct next-generation sequencing (NGS) libraries directly from plasma without cell-free DNA (cfDNA) isolation. Peripheral blood samples (600) were obtained from a retrospective cohort of 300 pregnant women prior to invasive diagnostic testing. The samples were subsequently distributed between library preparation methodologies, with 300 samples prepared by PLET and 300 by conventional methods for non-invasive prenatal testing (NIPT) to screen for common trisomies using low-pass whole genome next generation sequencing. NIPT conducted on PLET libraries demonstrated comparable metrics to libraries prepared using conventional methods, including 100% sensitivity and specificity. Our study demonstrates the potential utility of PLET in the clinical setting and highlights its significant advantages, including dramatically reduced process complexity and markedly decreased turnaround time.

Identifiants

pubmed: 36709503
pii: cclm-2022-0283
doi: 10.1515/cclm-2022-0283
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

999-1004

Informations de copyright

© 2022 Walter de Gruyter GmbH, Berlin/Boston.

Références

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Auteurs

Meihong Ren (M)

Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing, P.R. China.

Guangxin Sun (G)

Beijing USCI Medical Laboratory Co Ltd, Beijing, P.R. China.

Xiangsha Kong (X)

Peking University People's Hospital, Peking University Hepatology Institute, Beijing, P.R. China.

Lin Zhang (L)

Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing, P.R. China.

Ying Ji (Y)

Peking University People's Hospital, Peking University Hepatology Institute, Beijing, P.R. China.

Huiying Rao (H)

Peking University People's Hospital, Peking University Hepatology Institute, Beijing, P.R. China.

Liuyezi Du (L)

Beijing USCI Medical Laboratory Co Ltd, Beijing, P.R. China.

Xiaohong Zhang (X)

Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing, P.R. China.

Qixi Wu (Q)

Beijing USCI Medical Laboratory Co Ltd, Beijing, P.R. China.

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