扩展型无创性产前检测用于检测母体外周血循环中胎儿细胞的染色体非整倍体的准确性：与母血淋巴细胞 DNA 的 CNV-seq 比较研究。
Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA.
机构信息
Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China.
出版信息
Taiwan J Obstet Gynecol. 2024 Jul;63(4):536-539. doi: 10.1016/j.tjog.2024.02.006.
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.
目的
评估扩展无创产前检测（NIPT）用于检测母体染色体数目变异的准确性。
材料与方法
采用扩展 NIPT 技术在全基因组范围内检测≥2 Mb 的 CNVs。母体缺失的阈值为拷贝数（CN）≤1.6，母体重复的阈值为 CN≥2.4。
结果
在 5440 例成功进行扩展 NIPT 检测的孕妇中，27 例孕妇中检测到 28 例≥2 Mb 的母体 CNVs。除了 5 例报告检测失败外，在其余 22 例孕妇中，通过对母体淋巴细胞 DNA 的 CNV-seq 进一步确认了 23 例≥2 Mb 的 CNVs。扩展 NIPT 报告的母体 CNVs 的基因组位置、CN 和片段大小与母体淋巴细胞 DNA 的 CNV-seq 结果一致。
结论
根据扩展 NIPT 结果提示的 CN，可以准确评估≥2 Mb 的母体 CNVs。
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