To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT. 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome. A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.15%) were detected, there were 96 true positive samples, 117 false positive samples and 81 cases were refused further diagnosis. Samples with high risk of autosomal aneuploidy were detected in 71 cases (0.28%), and 51 cases were confirmed, including: trisomy 21 (T21) in 44 cases, trisomy 18 (T18) in 5 cases, and trisomy 13 (T13) in 2 cases; the positive predictive value (PPV) was 91.67%, 45.45%, and 33.33%, respectively, and the negative predictive value was 100%, the false positive rate (FPR) was 0.02%, 0.02%, and 0.02%, respectively.13 samples with high risk of mosaic trisomies 21, 18, and 13 were detected, and 1 case of T21mos was confirmed with a PPV of 8.33%. Samples with high risk of SCA were detected in 72 cases (0.28%), and the diagnosis was confirmed in 23 cases, with a PPV of 41.07% and a FPR of 0.13%. These included 3 cases of 45,X, 6 cases of 47,XXY, 8 cases of 47,XXX and 6 cases of 47,XYY, with PPVs of 12.00%, 50.00%, 72.73%, and 75.00%, respectively, and false-positive rates of 0.09%, 0.02%, 0.01% and 0.01% respectively. Samples with high risk of CNV were detected in 104 cases (0.41%) and confirmed in 18 cases, with a PPV of 32.14% and a FPR of 0.15%. Samples with high risk of other chromosomal aneuploidy were detected in 34 cases (0.13%), and the diagnosis was confirmed in 3 cases, which were T2, T9, and T16 respectively. The overall PPV for other chromosome aneuploidy was 12.50%, with a FPR of 0.08%. NIPT is indicated for trisomies 21, 18 and 13 screening, especially for T21. It also has some certain reference value for SCA and CNV, but is not recommended for screening of other chromosomal aneuploidy.

中文翻译：

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无创产前检测在胎儿染色体疾病检测中的临床应用

评估无创产前检测（NIPT）对胎儿常染色体非整倍体、性染色体非整倍体（SCA）、其他染色体非整倍体、拷贝数变异（CNV）的检测效率，为NIPT的临床应用提供进一步的数据。选取2019年9月至2020年9月在安徽省妇幼保健院进行NIPT检测的25517名孕妇，采用羊水对检测结果为高危的样本进行核型分析比较，部分样本进一步通过染色体微阵列分析进行验证，并跟踪妊娠结果。共接受NIPT的孕妇25517人，检测成功25502例，检出高危样本294份（1.15%），真阳性样本96份，117份假阳性样本，81例拒绝进一步诊断。71例（0.28%）检出常染色体非整倍体高危样本，确诊51例，其中：21三体（T21）44例，18三体（T18）5例，13三体（T13） 2例；阳性预测值（PPV）分别为91.67%、45.45%和33.33%，阴性预测值为100%，假阳性率（FPR）分别为0.02%、0.02%和0.02%。 13检出嵌合体21、18、13三体高危样本，确诊1例T21mos，PPV为8.33%。检出SCA高危样本72例（0.28%），确诊23例，PPV为41.07%，FPR为0.13%。其中包括 3 例 45,X，6 例 47,XXY，8 例 47,XXX 和 6 例 47,XYY，PPV 分别为 12.00%、50.00%、72.73% 和 75.00%，假阳性率分别为 0.09%、0.02%、0.01% 和 0.01%。检出CNV高危样本104例（0.41%），确诊18例，PPV为32.14%，FPR为0.15%。检出其他染色体非整倍体高危样本34例（0.13%），确诊3例，分别为T2、T9、T16。其他染色体非整倍体的总体 PPV 为 12.50%，FPR 为 0.08%。NIPT 适用于 21、18 和 13 三体筛查，尤其是 T21。对SCA和CNV也有一定的参考价值，但不推荐用于其他染色体非整倍体的筛查。分别为 01%。检出CNV高危样本104例（0.41%），确诊18例，PPV为32.14%，FPR为0.15%。检出其他染色体非整倍体高危样本34例（0.13%），确诊3例，分别为T2、T9、T16。其他染色体非整倍体的总体 PPV 为 12.50%，FPR 为 0.08%。NIPT 适用于 21、18 和 13 三体筛查，尤其是 T21。对SCA和CNV也有一定的参考价值，但不推荐用于其他染色体非整倍体的筛查。分别为 01%。检出CNV高危样本104例（0.41%），确诊18例，PPV为32.14%，FPR为0.15%。检出其他染色体非整倍体高危样本34例（0.13%），确诊3例，分别为T2、T9、T16。其他染色体非整倍体的总体 PPV 为 12.50%，FPR 为 0.08%。NIPT 适用于 21、18 和 13 三体筛查，尤其是 T21。对SCA和CNV也有一定的参考价值，但不推荐用于其他染色体非整倍体的筛查。确诊3例，分别为T2、T9、T16。其他染色体非整倍体的总体 PPV 为 12.50%，FPR 为 0.08%。NIPT 适用于 21、18 和 13 三体筛查，尤其是 T21。对SCA和CNV也有一定的参考价值，但不推荐用于其他染色体非整倍体的筛查。确诊3例，分别为T2、T9、T16。其他染色体非整倍体的总体 PPV 为 12.50%，FPR 为 0.08%。NIPT 适用于 21、18 和 13 三体筛查，尤其是 T21。对SCA和CNV也有一定的参考价值，但不推荐用于其他染色体非整倍体的筛查。