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Article Abstract
Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations.
Materials And Methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of maternal duplication was CN ≥ 2.4.
Results: Of the 5440 pregnant women with successful expanded NIPT results, 28 maternal CNVs ≥2 Mb were detected in 27 pregnant women. Except for five cases reported as test failure, 23 CNVs ≥2 Mb were confirmed among the remaining 22 pregnant women by CNV-seq of maternal lymphocyte DNA. The genomic location, copy numbers and fragment size of maternal CNVs reported by expanded NIPT were consistent with the results of CNV-seq of maternal lymphocyte DNA.
Conclusions: Maternal CNVs ≥2 Mb can be accurately evaluated according to the CN indicated by expanded NIPT results.
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| http://dx.doi.org/10.1016/j.tjog.2024.02.006 | DOI Listing |
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