Frontiers in Molecular Biosciences (May 2021)
Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations
- Songchang Chen,
- Songchang Chen,
- Songchang Chen,
- Songchang Chen,
- Songchang Chen,
- Lanlan Zhang,
- Lanlan Zhang,
- Lanlan Zhang,
- Lanlan Zhang,
- Lanlan Zhang,
- Jiong Gao,
- Shuyuan Li,
- Shuyuan Li,
- Shuyuan Li,
- Chunxin Chang,
- Chunxin Chang,
- Chunxin Chang,
- Yiyao Chen,
- Yiyao Chen,
- Yiyao Chen,
- Hongjun Fei,
- Hongjun Fei,
- Hongjun Fei,
- Junyu Zhang,
- Junyu Zhang,
- Junyu Zhang,
- Yanlin Wang,
- Yanlin Wang,
- Yanlin Wang,
- Hefeng Huang,
- Hefeng Huang,
- Hefeng Huang,
- Chenming Xu,
- Chenming Xu,
- Chenming Xu,
- Chenming Xu,
- Daru Lu,
- Daru Lu
Affiliations
- Songchang Chen
- State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China
- Songchang Chen
- Genetics Center of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China
- Songchang Chen
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Songchang Chen
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Songchang Chen
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Lanlan Zhang
- State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China
- Lanlan Zhang
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Lanlan Zhang
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Lanlan Zhang
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Lanlan Zhang
- Institutes of Biomedical Sciences, Fudan University, Shanghai, China
- Jiong Gao
- Shanghai Medical Laboratory, BGI-Shanghai, BGI-Shenzhen, Shanghai, China
- Shuyuan Li
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Shuyuan Li
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Shuyuan Li
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Chunxin Chang
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Chunxin Chang
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Chunxin Chang
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Yiyao Chen
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Yiyao Chen
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Yiyao Chen
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Hongjun Fei
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Hongjun Fei
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Hongjun Fei
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Junyu Zhang
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Junyu Zhang
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Junyu Zhang
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Yanlin Wang
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Yanlin Wang
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Yanlin Wang
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Hefeng Huang
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Hefeng Huang
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Hefeng Huang
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Chenming Xu
- Genetics Center of Obstetrics and Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China
- Chenming Xu
- The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
- Chenming Xu
- Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China
- Chenming Xu
- Shanghai Municipal Key Clinical Specialty, Shanghai, China
- Daru Lu
- State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai, China
- Daru Lu
- Key Laboratory of Birth Defects and Reproductive Health of National Health Commission, Chongqing Population and Family Planning, Science and Technology Research Institute, Chongqing, China
- DOI
- https://doi.org/10.3389/fmolb.2021.649169
- Journal volume & issue
-
Vol. 8
Abstract
Non-invasive prenatal testing (NIPT) for common fetal trisomies is effective. However, the usefulness of cell-free DNA testing to detect other chromosomal abnormalities is poorly understood. We analyzed the positive rate at different read depths in next-generation sequencing (NGS) and identified a strategy for fetal copy number variant (CNV) detection in NIPT. Pregnant women who underwent NIPT by NGS at read depths of 4–6 M and fetuses with suspected CNVs were analyzed by amniocentesis and chromosomal microarray analysis (CMA). These fetus samples were re-sequenced at a read depth of 25 M and the positive detection rate was determined. With the increase in read depth, the positive CNV detection rate increased. The positive CNV detection rates at 25 M with small fragments were higher by NGS than by karyotype analysis. Increasing read depth in NGS improves the positive CNV detection rate while lowering the false positive detection rate. NIPT by NGS may be an accurate method of fetal chromosome analysis and reduce the rate of birth defects.
Keywords
- non-invasive prenatal testing
- copy number variation
- sequencing depth
- microdeletion/microduplication syndromes
- next generation sequencing
