Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication
| Autor: | Linlin Zhang, Weifang Tian, Chongyang Zhu, Yueli Wu, Ying Li, Hong Lv, Ling Zhao |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine Noninvasive Prenatal Testing Biology DNA sequencing 03 medical and health sciences Fetus non‐invasive prenatal testing 0302 clinical medicine Pregnancy Chromosome Duplication Gene duplication medicine Humans Chromosomal Deletion Genetics medicine.diagnostic_test Microarray analysis techniques high‐throughput sequencing Clinical performance High-Throughput Nucleotide Sequencing Karyotype Sequence Analysis DNA Original Articles Cell Biology cell‐free foetal DNA chromosomal deletions/duplications chromosomal abnormalities 030104 developmental biology Karyotyping 030220 oncology & carcinogenesis Amniocentesis Molecular Medicine Female Original Article Chromosome Deletion |
| Zdroj: | Journal of Cellular and Molecular Medicine |
| ISSN: | 1582-4934 1582-1838 |
| DOI: | 10.1111/jcmm.15593 |
| Popis: | The present study aimed to estimate the clinical performance of non‐invasive prenatal testing (NIPT) based on high‐throughput sequencing method for the detection of foetal chromosomal deletions and duplications. A total of 6348 pregnant women receiving NIPT using high‐throughput sequencing method were included in our study. They all conceived naturally, without twins, triplets or multiple births. Individuals showing abnormalities in NIPT received invasive ultrasound‐guided amniocentesis for chromosomal karyotype and microarray analysis at 18‐24 weeks of pregnancy. Detection results of foetal chromosomal deletions and duplications were compared between high‐throughput sequencing method and chromosomal karyotype and microarray analysis. Thirty‐eight individuals were identified to show 51 chromosomal deletions/duplications via high‐throughput sequencing method. In subsequent chromosomal karyotype and microarray analysis, 34 subchromosomal deletions/duplications were identified in 26 pregnant women. The observed deletions and duplications ranged from 1.05 to 17.98 Mb. Detection accuracy for these deletions and duplications was 66.7%. Twenty‐one deletions and duplications were found to be correlated with the known abnormalities. NIPT based on high‐throughput sequencing technique is able to identify foetal chromosomal deletions and duplications, but its sensitivity and specificity were not explored. Further progress should be made to reduce false‐positive results. |
| Databáze: | OpenAIRE |
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