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

  • Meihong Ren , Guangxin Sun , Xiangsha Kong , Lin Zhang , Ying Ji , Huiying Rao , Liuyezi Du , Xiaohong Zhang EMAIL logo and Qixi Wu EMAIL logo
Published/Copyright: January 31, 2023
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 61 Issue 6

Abstract

Objectives

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.

Methods

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.

Results

NIPT conducted on PLET libraries demonstrated comparable metrics to libraries prepared using conventional methods, including 100% sensitivity and specificity.

Conclusions

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.

Keywords: cfDNA; non-invasive prenatal screening (NIPS); non-invasive prenatal testing (NIPT); plasma to library express technology (PLET)
Corresponding authors: Xiaohong Zhang, Department of Obstetrics and Gynecology, Peking University People’s Hospital, Beijing, P.R. China, Phone: +86-10-8832-4280, E-mail: ; and Qixi Wu, Beijing USCI Medical Laboratory Co Ltd, Beijing, P.R. China, Phone: +86-10-4006-881-555, E-mail:
Meihong Ren and Guangxin Sun contributed equally to this work.

Funding source: Beijing Natural Science Foundation

Award Identifier / Grant number: No. 7222240

Acknowledgments

We thank all patients for consenting to participate. We also thank Catherine Perfect, MA (Cantab), from Liwen Bianji (Edanz) (www.liwenbianji.cn), for editing the English text of a draft of this manuscript.

  1. Research funding: This research was supported by Beijing Natural Science Foundation (No. 7222240).

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: The authors declare that there is no known competing financial interests.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/cclm-2022-0283).

Received: 2022-03-23
Accepted: 2022-12-12
Published Online: 2023-01-31
Published in Print: 2023-05-25

© 2022 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/cclm-2022-0283
Keywords for this article
cfDNA; non-invasive prenatal screening (NIPS); non-invasive prenatal testing (NIPT); plasma to library express technology (PLET)

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Improving access to diagnostic testing in conflict-affected areas: what is needed?
  4. Review
  5. Deciphering the role of monocyte and monocyte distribution width (MDW) in COVID-19: an updated systematic review and meta-analysis
  6. Opinion Paper
  7. From research cohorts to the patient – a role for “omics” in diagnostics and laboratory medicine?
  8. EFLM Paper
  9. The European Register of Specialists in Clinical Chemistry and Laboratory Medicine: code of conduct, version 3 – 2023
  10. Guidelines and Recommendations
  11. Cardiac troponin measurement at the point of care: educational recommendations on analytical and clinical aspects by the IFCC Committee on Clinical Applications of Cardiac Bio-Markers (IFCC C-CB)
  12. Genetics and Molecular Diagnostics
  13. A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technology
  14. Multiplex proteomics using proximity extension assay for the identification of protein biomarkers predictive of acute graft-vs.-host disease in allogeneic hematopoietic cell transplantation
  15. General Clinical Chemistry and Laboratory Medicine
  16. Assessment of laboratory capacity in conflict-affected low-resource settings using two World Health Organization laboratory assessment tools
  17. Challenge in hyponatremic patients – the potential of a laboratory-based decision support system for hyponatremia to improve patient’s safety
  18. Evaluation of hemolysis, lipemia, and icterus interference with common clinical immunoassays
  19. Serum bicarbonate stability study at room temperature – influence of time to centrifugation and air exposure on bicarbonate measurement reported according to the CRESS checklist
  20. Effects of lipemia on capillary serum protein electrophoresis in native ultra-lipemic material and intravenous lipid emulsion added sera
  21. C-reactive protein interacts with amphotericin B liposomes and its potential clinical consequences
  22. Evaluation of analytical performance of homocysteine LC-MS/MS assay and design of internal quality control strategy
  23. A reliable and high throughput HPLC–HRMS method for the rapid screening of β-thalassemia and hemoglobinopathy in dried blood spots
  24. Dynamics of the vitamin D C3-epimer levels in preterm infants
  25. Comparison of ANA testing by indirect immunofluorescence or solid-phase assays in a low pre-test probability population for systemic autoimmune disease: the Camargo Cohort
  26. Reference Values and Biological Variations
  27. LMS-based continuous reference percentiles for 14 laboratory parameters in the CALIPER cohort of healthy children and adolescents
  28. Indirectly determined reference intervals for automated white blood cell differentials of pediatric patients in Berlin and Brandenburg
  29. Infectious Diseases
  30. Evaluation of a high-sensitivity SARS-CoV-2 antigen test on the fully automated light-initiated chemiluminescent immunoassay platform
  31. Letters to the Editor
  32. Non-esterified fatty acids (NEFA): sample stability and effect of haemolysis and icterus
  33. Frozen serum sample pool should not be used as internal quality assessment for lipemia (L) index
  34. Stability of SARS-CoV-2 respiratory samples in non-freezing condition: importance for tropical countries under heavy diagnostic demand
  35. A rare case of both macro-TSH and macro-LH: laboratory analysis of the pathogenesis
  36. A new method for early cancer detection based on platelet transcriptomics will have low positive predictive value
  37. Comparison of near-infrared and UV–vis-based non-contact hematocrit prediction of dried blood spots from patients on immunosuppressants
  38. The diagnostics of heparin-induced thrombocytopenia in Italy and the possible impact of vaccine-induced immune thrombotic thrombocytopenia on it
  39. Pitfall in the analysis of the alcohol biomarkers ethyl glucuronide and ethyl sulfate by laboratory-caused contamination with disinfectants
  40. Growing your own food is like printing money, don’t let it make you mad as a hatter
  41. Congress Abstracts
  42. 43rd annual conference of the association of clinical biochemists in Ireland (ACBI 2021)
  43. 44th Annual Conference of the Association of Clinical Biochemists in Ireland (ACBI 2022)
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