用于检测胎儿拷贝数变异的无创产前筛查的综合评估
Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations.
作者信息
Wang Jing, Zhang Bin, Zhou Lingna, Zhou Qin, Chen Yingping, Yu Bin
机构信息
Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, China.
出版信息
Front Genet. 2021 Jul 16;12:665589. doi: 10.3389/fgene.2021.665589. eCollection 2021.
OBJECTIVE
To evaluate the effectiveness of non-invasive prenatal screening (NIPS) in prenatal screening of fetal pathogenic copy number variants (CNVs).
MATERIALS AND METHODS
We evaluated the prenatal screening capacity using traditional and retrospective approaches. For the traditional method, we evaluated 24,613 pregnant women who underwent NIPS; cases which fetal CNVs were suggested underwent prenatal diagnosis with chromosomal microarray analysis (CMA). For the retrospective method, we retrospectively evaluated 47 cases with fetal pathogenic CNVs by NIPS. A systematic literature search was performed to compare the evaluation efficiency.
RESULTS
Among the 24,613 pregnant women who received NIPS, 124 (0.50%) were suspected to have fetal CNVs. Of these, 66 women underwent prenatal diagnosis with CMA and 13 had true-positive results. The positive predictive value (PPV) of NIPS for fetal CNVs was 19.7%. Among 1,161 women who did not receive NIPS and underwent prenatal diagnosis by CMA, 47 were confirmed to have fetal pathogenic CNVs. Retesting with NIPS indicated that 24 of these 47 cases could also be detected by NIPS, representing a detection rate (DR) of 51.1%. In total, 10 publications, namely, six retrospective studies and four prospective studies, met our criteria and were selected for a detailed full-text review. The reported DRs were 61.10-97.70% and the PPVs were 36.11-80.56%. The sizes of CNVs were closely related to the accuracy of NIPS detection. The DR was 41.9% (13/31) in fetuses with CNVs ≤ 3 Mb, but was 55.0% (11/20) in fetuses with CNVs > 3 Mb. Finally, to intuitively show the CNVs accurately detected by NIPS, we mapped all CNVs to chromosomes according to their location, size, and characteristics. NIPS detected fetal CNVs in 2q13 and 4q35.
CONCLUSION
The DR and PPV of NIPS for fetal CNVs were approximately 51.1% and 19.7%, respectively. Follow-up molecular prenatal diagnosis is recommended in cases where NIPS suggests fetal CNVs.
目的
评估无创产前筛查（NIPS）在胎儿致病性拷贝数变异（CNV）产前筛查中的有效性。
材料与方法
我们采用传统方法和回顾性方法评估产前筛查能力。对于传统方法，我们评估了24,613例行NIPS的孕妇；对提示胎儿CNV的病例采用染色体微阵列分析（CMA）进行产前诊断。对于回顾性方法，我们回顾性评估了47例经NIPS检测出胎儿致病性CNV的病例。进行系统的文献检索以比较评估效率。
结果
在接受NIPS的24,613名孕妇中，124例（0.50%）被怀疑有胎儿CNV。其中，66名妇女接受了CMA产前诊断，13例结果为真阳性。NIPS对胎儿CNV的阳性预测值（PPV）为19.7%。在1,161名未接受NIPS而接受CMA产前诊断的妇女中，47例被确诊有胎儿致病性CNV。用NIPS重新检测表明，这47例中的24例也能被NIPS检测到，检出率（DR）为51.1%。总共10篇文献，即6篇回顾性研究和4篇前瞻性研究，符合我们的标准并被选作详细的全文综述。报道的DR为61.10 - 97.70%，PPV为36.11 - 80.56%。CNV的大小与NIPS检测的准确性密切相关。CNV≤3 Mb的胎儿中DR为41.9%（13/31），但CNV>3 Mb的胎儿中DR为55.0%（11/20）。最后，为直观显示NIPS准确检测到的CNV，我们根据其位置、大小和特征将所有CNV映射到染色体上。NIPS在2q13和4q35检测到胎儿CNV。
结论
NIPS对胎儿CNV的DR和PPV分别约为51.1%和19.7%。NIPS提示胎儿CNV的病例建议进行后续分子产前诊断。
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