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The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing

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cris.lastimport.scopus2024-02-12T19:57:11Z
dc.abstract.enPrenatal samples obtained by amniocentesis or chorionic villus sampling are at risk of maternal cell contamination (MCC). In traditional prenatal analysis, MCC is recommended to be assayed by special tests, such as the short tandem repeat analysis and, if detected at a high level, may result in failed analysis report. The objective of this study was to test the ability of chip-based digital PCR to detect fetal aneuploidies in the presence of MCC. To determine the level of accuracy of MCC detection, an aneuploid male sample was subjected to serial dilution with an euploid female sample. DNA was extracted from prenatal samples and analyzed with QuantStudio 3D Digital PCR. Digital PCR analysis allowed the detection of trisomy 21, trisomy 18, and X monosomy accurately in samples with 90%, 85%, and 92% of MCC, respectively. Moreover, our results indicated that digital PCR was able to accurately confirm the presence of Y chromosome at up to 95% contamination. The amniotic fluid and chorionic villus sampling (CVS) received in our clinical laboratory was subjected to further analysis of MCC based on the aneuploidy assessment algorithm, resulting in the identification of 10 contaminated samples and four cases of true fetal mosaicism. We conclude that chip-based digital PCR analysis enables the detection of fetal aneuploidy with high levels of accuracy, even in cases of significant MCC. Importantly, the algorithm eliminates the need for maternal DNA and additional MCC tests, which reduces costs and simplifies the diagnostic procedure. The method is easy to set up and suitable for routine clinical practice.
dc.affiliationUniwersytet Warszawski
dc.contributor.authorWoźniak, Rafał
dc.contributor.authorGach, Agnieszka
dc.contributor.authorNykel, Anna
dc.date.accessioned2024-01-26T10:26:11Z
dc.date.available2024-01-26T10:26:11Z
dc.date.copyright2021-09-03
dc.date.issued2021
dc.description.accesstimeAT_PUBLICATION
dc.description.financePublikacja bezkosztowa
dc.description.number9
dc.description.versionFINAL_PUBLISHED
dc.description.volume11
dc.identifier.doi10.3390/DIAGNOSTICS11091607
dc.identifier.urihttps://repozytorium.uw.edu.pl//handle/item/122536
dc.identifier.weblinkhttps://www.mdpi.com/2075-4418/11/9/1607/pdf
dc.languageeng
dc.pbn.affiliationeconomics and finance
dc.relation.ispartofDiagnostics
dc.relation.pages1607
dc.rightsCC-BY
dc.sciencecloudnosend
dc.subject.enaneuploidy detection
dc.subject.enchip-based digital PCR
dc.subject.enmaternal cell contamination
dc.subject.enprenatal diagnostics
dc.subject.enmosaicism
dc.titleThe Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing
dc.typeJournalArticle
dspace.entity.typePublication