Xiang Pingxia, Liu Ling, Hu Xijiang, Zhou Yan
Prenatal Diagnostic Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jan 10;40(1):17-20. doi: 10.3760/cma.j.cn511374-20211209-00976.
To assess the application value of copy number variation sequencing (CNV-seq) for women with a high risk for fetal anomalies.
Based on the results of non-invasive prenatal testing (NIPT), 271 high-risk pregnant women were divided into NIPT positive group (n = 83) and other anomaly group (advanced age, high risk by serological screening, repeated NIPT failure, adverse pregnancy history, abnormal ultrasound finding, and abnormal phenotype) (n = 188). CNV-seq was carried out to detect copy number variations (CNVs) in amniocytic DNA from the two groups of pregnant women, and karyotyping analysis of the amniotic cells was carried out for verification and comparison.
The amniocytes from 271 pregnant women were detected. The detection rate was 20.66% (56/271) for pathogenic CNVs by CNV-seq and 19.19% (52/271) for pathogenic karyotypes by karyotyping analysis. The difference was statistically significant (P < 0.05). CNV-seq had shown that, compared with NIPT positive group, the detection rates for likely pathogenic CNVs and variants of unknown significance (VUS) in other abnormality group were significantly higher [2.41%(2/83) vs. 5.32%(10/188)](P < 0.05).
CNV-seq can well suit the first-tier diagnosis for pregnant women suspected for fetal abnormality. In prenatal diagnosis settings, CNV-seq can identify additional and clinically significant cytogenetic abnormalities. In those with other abnormalities, the detection rates for likely pathogenic CNVs and VUS are higher than with the NIPT positive cases.
评估拷贝数变异测序（CNV-seq）在胎儿异常高危女性中的应用价值。
根据无创产前检测（NIPT）结果，将271例高危孕妇分为NIPT阳性组（n = 83）和其他异常组（高龄、血清学筛查高危、NIPT反复失败、不良孕史、超声检查异常及表型异常）（n = 188）。对两组孕妇的羊水细胞DNA进行CNV-seq检测拷贝数变异（CNV），并对羊水细胞进行核型分析以进行验证和比较。
对271例孕妇的羊水细胞进行了检测。CNV-seq检测到致病性CNV的检出率为20.66%（56/271），核型分析检测到致病性核型的检出率为19.19%（52/271）。差异有统计学意义（P < 0.05）。CNV-seq显示，与NIPT阳性组相比，其他异常组中可能致病性CNV和意义未明变异（VUS）的检出率显著更高[2.41%（2/83）对5.32%（10/188）]（P < 0.05）。
CNV-seq非常适合对疑似胎儿异常的孕妇进行一线诊断。在产前诊断中，CNV-seq可以识别出额外的且具有临床意义的细胞遗传学异常。在其他异常的孕妇中，可能致病性CNV和VUS的检出率高于NIPT阳性病例。
