使用中覆盖全基因组测序(CMA- seq)产前诊断胎儿结构异常:与CMA在3973例妊娠中的大规模比较研究

IF 4.3 1区 医学 Q1 OBSTETRICS & GYNECOLOGY
Yan Jiang, Fang Liu, Lijuan Zhong, Rong Zhong, Mingxing Liang, Lin Ma, Victor Wei Zhang, Baixue Chen, Qian Zhang, Lei Xu, Wei Zhou
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引用次数: 0

摘要

目的评价中覆盖全基因组测序(CMA-seq)产前诊断胎儿结构异常的可行性和有效性,并与常规染色体微阵列分析(CMA)进行比较。设计一项前瞻性临床研究,结合系统荟萃分析。中国重庆一家三级妇幼保健院。3973名超声检查出胎儿结构异常或其他高危指征的孕妇。方法采用羊膜穿刺术采集标本,随后采用CMA-seq检测广泛的染色体异常。采用meta分析研究CMA在产前诊断中的应用及效果。在中英文数据库中筛选临床研究,并进行meta分析。主要观察指标染色体异常的检出率,包括马赛克非整倍体、小拷贝数变异(CNVs < 100 kb)和缺乏杂合性。结果scma -seq检出染色体异常的占24.72%(982/3973)。6.5%的样本存在嵌合非整倍性(42例嵌合率< 30%)。共有670例出现CNVs,其中40例小于100 kb。AOH 112例(2.82%)。荟萃分析表明,传统CMA的合并嵌合染色体检出率较低(1.10%),CNVs < 500 kb的比例较小(2.06%),AOH检出率较低(1.26%)。结论cma -seq在检测低水平嵌合非整倍体、小片段cnv和AOH方面具有显著的进步和优越的灵敏度。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies

Objective

To evaluate the feasibility and effectiveness of medium-coverage whole genome sequencing (CMA-seq) for prenatal diagnosis of foetal structural anomalies, and to compare its performance with conventional chromosomal microarray analysis (CMA).

Design

A prospective clinical study combined with a systematic meta-analysis.

Setting

A tertiary maternal and child health hospital in Chongqing, China.

Population or Sample

3973 pregnant women with ultrasound-detected foetal structural anomalies or other high-risk indications.

Methods

Specimens were collected through amniocentesis, followed by CMA-seq to identify a wide range of chromosomal abnormalities. Meta-analysis was used to study the application and effectiveness of CMA in prenatal diagnosis. Clinical studies were screened in Chinese and English databases, and a meta-analysis was performed.

Main Outcome Measures

Detection rates for chromosomal abnormalities, including mosaic aneuploidy, small copy number variants (CNVs < 100 kb) and absence of heterozygosity.

Results

CMA-seq identified chromosomal abnormalities in 24.72% (982/3973) of cases. Mosaic aneuploidy was detected in 6.5% of samples (42 cases < 30% mosaicism). A total of 670 cases were presented with CNVs, including 40 below 100 kb. AOH was found in 112 cases (2.82%). The meta-analysis indicated a lower pooled chimeric chromosome detection rate (1.10%), a smaller proportion of CNVs < 500 kb (2.06%), and reduced AOH detection (1.26%) with conventional CMA.

Conclusion

CMA-seq exhibits significant advancements and superior sensitivity in detecting low-level mosaic aneuploidy, small segment CNVs and AOH.

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来源期刊
CiteScore
10.90
自引率
5.20%
发文量
345
审稿时长
3-6 weeks
期刊介绍: BJOG is an editorially independent publication owned by the Royal College of Obstetricians and Gynaecologists (RCOG). The Journal publishes original, peer-reviewed work in all areas of obstetrics and gynaecology, including contraception, urogynaecology, fertility, oncology and clinical practice. Its aim is to publish the highest quality medical research in women''s health, worldwide.
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