BACKGROUND Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies. METHODS A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed. RESULTS A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5-10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different. CONCLUSION Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.

中文翻译：

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对42,910名具有不同临床特征的单胎孕妇进行染色体非整倍性和染色体亚微缺失/微复制的无创产前检测。

背景技术自从在孕妇血浆中发现无细胞DNA（cfDNA）以来，它为非侵入性产前检测开辟了新途径。随着全基因组测序的发展，NIPT可以发现小的亚染色体缺失和重复。这项研究旨在回顾NIPT在42,910次单胎妊娠中作为非整倍性和CNV的筛查测试的功效。方法总共招募了42910例具有不同临床特征的单胎妊娠。无细胞胎儿DNA被直接测序。分析了PPV的每个染色体非整倍性和亚染色体微缺失/微重复。结果NIPT共检测出534例妊娠（1.24％）异常结果，并对403例妊娠进行了产前诊断。三体性21（T21），三体性18（T18）的阳性预测值（PPV），13三体（T13），性染色体非整倍性（SCAs）和其他染色体非整倍性分别为79.23％，54.84％，13.79％，33.04％和9.38％。CNV的PPV为28.99％。CNV≤5 Mb的PPV分别为20.83％，5-10 Mb 50.00％内，> 10 Mb 27.27％。根据怀孕特征，NIPT的PPV也有所不同。结论我们的数据对于证明NIPT谱分析不仅对于常见的全染色体非整倍性而且对于CNV具有有用的潜在意义。但是，对于CNV而言，这种最新方法仍处于起步阶段。在临床实践中仍然需要具有准确检出率和假阳性率的临床验证研究。CNV的PPV为28.99％。CNV≤5 Mb的PPV分别为20.83％，5-10 Mb 50.00％内，> 10 Mb 27.27％。根据怀孕特征，NIPT的PPV也有所不同。结论我们的数据对于证明NIPT谱分析不仅对于常见的全染色体非整倍性而且对于CNV具有有用的潜在意义。但是，对于CNV而言，这种最新方法仍处于起步阶段。在临床实践中仍需要具有准确检出率和假阳性率的临床验证研究。CNV的PPV为28.99％。CNV≤5 Mb的PPV分别为20.83％，5-10 Mb 50.00％内，> 10 Mb 27.27％。根据怀孕特征，NIPT的PPV也有所不同。结论我们的数据对于证明NIPT谱分析不仅对于常见的全染色体非整倍性而且对于CNV具有有用的潜在意义。但是，对于CNV而言，这种最新方法仍处于起步阶段。在临床实践中仍然需要具有准确检出率和假阳性率的临床验证研究。结论我们的数据对于证明NIPT谱分析不仅对于常见的全染色体非整倍性而且对于CNV具有有用的潜在意义。但是，对于CNV而言，这种最新方法仍处于起步阶段。在临床实践中仍然需要具有准确检出率和假阳性率的临床验证研究。结论我们的数据对于证明NIPT谱分析不仅对于常见的全染色体非整倍性而且对于CNV具有有用的潜在意义。但是，对于CNV而言，这种最新方法仍处于起步阶段。在临床实践中仍然需要具有准确检出率和假阳性率的临床验证研究。