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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Yuan, Yuan Jiang, Fuman Hua, Sang Du, Bole Hao, Yibin Ye, Lili Liu, Jiucheng Feng, Kaiyan Huang, Xinjie Yi, Xin Wang, Wei Yang, Ling Mu, Feng Liu, Caixia Liang, Yu |
| Description | Country affiliation: China Author Affiliation: Yuan Y ( Shenzhen Birth Defect screening project laboratory, BGI-Shenzhen, Shenzhen, China.) |
| Abstract | BACKGROUND: Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms. Turnaround times for previously tested platforms are still unsatisfactory for clinical applications, however, because of the time spent on sequencing. The development of semiconductor sequencing technology has provided a way to shorten overall run times. We studied the feasibility of using semiconductor sequencing technology for the noninvasive detection of fetal aneuploidy. METHODS: Maternal plasma DNA from 13 pregnant women, corresponding to 4 euploid, 6 trisomy 21 (T21), 2 trisomy 18 (T18), and 1 trisomy 13 (T13) pregnancies, were sequenced on the Ion Torrent Personal Genome Machine sequencer platform with 318 chips. The data were analyzed with the T statistic method after correcting for GC bias, and the T value was calculated as an indicator of fetal aneuploidy. RESULTS: We obtained a mean of 3 524 401 high-quality reads per sample, with an efficiency rate of 77.9%. All of the T21, T13, and T18 fetuses could be clearly distinguished from euploid fetuses, and the time spent on library preparation and sequencing was 24 h. CONCLUSIONS: Semiconductor sequencing represents a suitable technology for the noninvasive prenatal detection of fetal aneuploidy. With this platform, sequencing times can be substantially reduced; however, a further larger-scale study is needed to determine the imprecision of noninvasive fetal aneuploidy detection with this system. |
| File Format | HTM / HTML |
| ISSN | 00099147 |
| e-ISSN | 15308561 |
| Journal | Clinical Chemistry |
| Issue Number | 5 |
| Volume Number | 59 |
| Language | English |
| Publisher | American Association for Clinical Chemistry |
| Publisher Date | 2013-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Trisomy Semiconductors Instrumentation Discipline Laboratory Medicine Chromosome Disorders Maternal Serum Screening Tests Sequence Analysis, Dna Blood Feasibility Studies Pregnancy Pathology Chemistry Embryology Discipline Clinical Chemistry Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 13 Fetus Genetics Chromosomes, Human, Pair 21 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Biochemistry (medical) Clinical Biochemistry |
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