扩大无创产前检测母体拷贝数变异的准确性：与母体淋巴细胞 DNA CNV-seq 的比较研究

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS

ACS Applied Bio Materials Pub Date : 2024-07-01 DOI:10.1016/j.tjog.2024.02.006

Honglei Duan , Wanjun Wang , Ying Zhang , Xuemei Chen , Zihan Jiang , Jie Li

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引用次数: 0

摘要

目的评估扩大无创产前检测（NIPT）检测母体拷贝数变异的准确性。材料与方法使用扩大无创产前检测在全基因组范围内检测≥2 Mb的CNV。结果在5440名成功获得扩增NIPT结果的孕妇中，有27名孕妇检测出28个母体拷贝数≥2 Mb的CNV。除 5 例检测失败的孕妇外，其余 22 例孕妇通过对母体淋巴细胞 DNA 进行 CNV-seq 分析，确认了 23 个≥2 Mb 的 CNV。扩增 NIPT 报告的母体 CNV 的基因组位置、拷贝数和片段大小与母体淋巴细胞 DNA 的 CNV-seq 结果一致。

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Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

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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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464