Clinical Medical College, Yangzhou University, Yangzhou, China.
J Obstet Gynaecol Res. 2023 Jul;49(7):1641-1650. doi: 10.1111/jog.15652. Epub 2023 Apr 10.
To identify the additional diagnostic value of CNV-seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis.
This was a systematic review conducted in accordance with PRISMA criteria. In order to clarify related research, PubMed, Web of Science databases (including Core Collection, BIOSIS Previews, MEDLINE, and so on), The Cochrane Library and Wiley Online Library were searched with the terms: "prenatal diagnosis," "CNV-seq," "karyotyping," published from January 2010 to May 2022. No language restrictions. RenMan 5.4 was used for the meta-analysis.
Eight studies were included in this systemic review and meta-analysis, including 11 091 pregnant women with high-risk pregnancy factors or with structurally abnormal fetus under ultrasound. CNV-seq detected a 2% (95% CI, -0% to 4%) additional chromosomal anomalies over conventional karyotyping in the six series. A 4% (95% CI, 3%-6%) pooled mean incremental yield of pathogenic CNVs by CNV-seq over karyotyping was observed, with a 1%-16% range.
CNV-seq, applied in prenatal diagnosis, may detect more chromosomal abnormalities when compared with karyotyping. With the advantages of wide coverage, high throughput, high resolution, no culture, good compatibility, and adjustable sequencing depth, CNV-seq has high application value in prenatal diagnosis.
确定 CNV-seq 在产前诊断中对染色体异常的附加诊断价值是否优于传统核型分析。
本研究按照 PRISMA 标准进行系统综述。为了阐明相关研究，检索了 PubMed、Web of Science 数据库（包括核心合集、BIOSIS Previews、MEDLINE 等）、The Cochrane Library 和 Wiley Online Library，检索词为：“产前诊断”、“CNV-seq”、“核型分析”，时间范围为 2010 年 1 月至 2022 年 5 月。不限制语言。使用 RenMan 5.4 进行荟萃分析。
本系统综述和荟萃分析共纳入 8 项研究，包括 11091 例高危妊娠因素或超声检查下胎儿结构异常的孕妇。在 6 项研究中，CNV-seq 比传统核型分析多检测出 2%（95%CI：-0%至 4%）的染色体异常。CNV-seq 比核型分析多检测出 4%（95%CI：3%-6%）的致病性 CNV，范围为 1%-16%。
与核型分析相比，CNV-seq 应用于产前诊断时可能会检测到更多的染色体异常。CNV-seq 具有覆盖范围广、高通量、高分辨率、无需培养、良好兼容性和可调节测序深度等优点，在产前诊断中有很高的应用价值。
