Additional diagnostic value of CNV‐seq over conventional karyotyping in prenatal diagnosis: A systematic review and meta‐analysis

医学 核型 荟萃分析 产前诊断 拷贝数变化 科克伦图书馆 生物信息学 怀孕 胎儿 病理 遗传学 基因组 染色体 生物 基因
作者
Heng Luo,Qian Wang,Dan Fu,Jun Gao,Dan Lü
出处
期刊:Journal of Obstetrics and Gynaecology Research [Wiley]
卷期号:49 (7): 1641-1650 被引量:4
标识
DOI:10.1111/jog.15652
摘要

Abstract Objective To identify the additional diagnostic value of CNV‐seq over conventional karyotyping on the part of chromosomal abnormalities in prenatal diagnosis. Method 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. Results 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. Conclusion 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.
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