Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations
Autor: | Songchang Chen, Lanlan Zhang, Jiong Gao, Shuyuan Li, Chunxin Chang, Yiyao Chen, Hongjun Fei, Junyu Zhang, Yanlin Wang, Hefeng Huang, Chenming Xu, Daru Lu |
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Rok vydání: | 2021 |
Předmět: |
medicine.medical_specialty
QH301-705.5 microdeletion/microduplication syndromes Read depth Biology Biochemistry Genetics and Molecular Biology (miscellaneous) Biochemistry Deep sequencing 03 medical and health sciences sequencing depth 0302 clinical medicine Chromosome analysis medicine Molecular Biosciences 030212 general & internal medicine Copy-number variation Biology (General) Molecular Biology Original Research non-invasive prenatal testing next generation sequencing Fetus 030219 obstetrics & reproductive medicine medicine.diagnostic_test Obstetrics Non invasive copy number variation Karyotype Amniocentesis |
Zdroj: | Frontiers in Molecular Biosciences, Vol 8 (2021) Frontiers in Molecular Biosciences |
ISSN: | 2296-889X |
Popis: | 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. |
Databáze: | OpenAIRE |
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