دورية أكاديمية
Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy.
| العنوان: | Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy. |
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| المؤلفون: | Oberle A; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Hanzer F; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Kokocinski F; Gene-Test Bioinformatics Solutions GmbH, Jakob-Müller-Str. 16, 68623 Lampertheim, Germany., Ennemoser A; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Carli L; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Vaccari E; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Hengstschläger M; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria., Feichtinger M; Wunschbaby Institut Feichtinger, Lainzer Straße 6, 1130 Vienna, Austria. |
| المصدر: | Clinical chemistry [Clin Chem] 2024 May 02; Vol. 70 (5), pp. 747-758. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2020- : Oxford : Oxford University Press Original Publication: Baltimore, Md. : P.B. Hoeber, [c1955- |
| مواضيع طبية MeSH: | Aneuploidy* , Preimplantation Diagnosis*/methods , Polar Bodies* , Nanopore Sequencing*/methods, Humans ; Female ; Genetic Testing/methods ; Comparative Genomic Hybridization/methods ; Pregnancy |
| مستخلص: | Background: Preimplantation genetic testing for aneuploidy (PGT-A) using polar body (PB) biopsy offers a clinical benefit by reducing the number of embryo transfers and miscarriage rates but is currently not cost-efficient. Nanopore sequencing technology opens possibilities by providing cost-efficient and fast sequencing results with uncomplicated sample preparation work flows. Methods: In this comparative experimental study, 102 pooled PB samples (99 passing QC) from 20 patients were analyzed for aneuploidy using nanopore sequencing technology and compared with array comparative genomic hybridization (aCGH) results generated as part of the clinical routine. Samples were sequenced on a Nanopore MinION machine. Whole-chromosome copy-numbers were called by custom bioinformatic analysis software. Automatically called results were compared to aCGH results. Results: Overall, 96/99 samples were consistently detected as euploid or aneuploid in both methods (concordance = 97.0%, sensitivity = 0.957, specificity = 1.0, positive predictive value = 1.0, negative predictive value = 0.906). On the chromosomal level, concordance reached 98.7%. Chromosomal aneuploidies analyzed in this trial covered all 23 chromosomes with 98 trisomies, and 97 monosomies in 70 aCGH samples.The whole nanopore work flow is feasible in under 5 h (for one sample) with a maximum time of 16 h (for 12 samples), enabling fresh PB-euploid embryo transfer. A material cost of US$ 165 (EUR 150)/sample possibly enables cost-efficient aneuploidy screening. Conclusions: This is the first study systematically comparing nanopore sequencing with standard methods for the detection of PB aneuploidy. High concordance rates confirmed the feasibility of nanopore technology for this application. Additionally, the fast and cost-efficient work flow reveals the clinical utility of this technology, making it clinically attractive for PB PGT-A. (© Association for Diagnostics & Laboratory Medicine 2024. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.) |
| تواريخ الأحداث: | Date Created: 20240307 Date Completed: 20240501 Latest Revision: 20240501 |
| رمز التحديث: | 20240502 |
| DOI: | 10.1093/clinchem/hvae024 |
| PMID: | 38451051 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-8561 |
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| DOI: | 10.1093/clinchem/hvae024 |