Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
| Autor: | Sidney K. C. Au-Yeung, Ranjit Akolekar, Ryoko Minekawa, Kypros H. Nicolaides, Yu Y. Kung, Yama W. L. Zheng, Cees B.M. Oudejans, Mary Hoi Yin Tang, Attie T. J. I. Go, John M. G. van Vugt, Rebecca Y. K. Tang, Fiona M.F. Lun, K.C. Allen Chan, Lisa Y.S. Chan, Eric Z. Chen, Peiyong Jiang, Tak Yeung Leung, Rossa W.K. Chiu, Xiuqing Zhang, Y.M. Dennis Lo, Hao Sun, W. C. Leung, William W. K. To, H. Lam, Yongjie Jin, Tze K. Lau, Jun Wang, Elizabeth T. Lau |
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| Přispěvatelé: | Obstetrics and gynaecology, Clinical chemistry, ICaR - Ischemia and repair |
| Rok vydání: | 2011 |
| Předmět: |
lcsh:Medicine
Trisomy Bioinformatics Chromosomal Disorders Pregnancy Prenatal Diagnosis lcsh:Science Base Composition Multidisciplinary Massive parallel sequencing Cardiovascular diseases [NCEBP 14] Chromosomal Deletions and Duplications Obstetrics and Gynecology Genomics Chromosomes Human Pair 13 - genetics Prenatal Diagnosis - methods Medicine Female Research Article Test Evaluation Down syndrome Prenatal diagnosis Biology DNA sequencing Fetus Genomic Medicine Diagnostic Medicine medicine Genetics Humans Genetic Testing Edwards syndrome Clinical Genetics Chromosomes Human Pair 13 Genome Human lcsh:R Trisomy - diagnosis - genetics Human Genetics DNA Sequence Analysis DNA medicine.disease Human genetics Fetus - pathology Pregnancy Complications lcsh:Q Chromosomes Human Pair 18 - genetics Chromosomes Human Pair 18 |
| Zdroj: | Chen, E Z, Chiu, R W K, Sun, H, Akolekar, R, Chan, K C A, Leung, T Y, Jiang, P Y, Zheng, Y W L, Lun, F M F, Chan, L Y S, Jin, Y J, Go, A T J I, Lau, E T, To, W W K, Leung, W C, Tang, R Y K, Au-Yeung, S K C, Lam, H, Kung, Y Y, Zhang, X Q, van Vugt, J M G, Minekawa, R, Tang, M H Y, Wang, J, Oudejans, C B M, Lau, T K, Nicolaides, K H & Lo, Y M D 2011, ' Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing ', PLoS ONE, vol. 6, no. 7, e21791 . https://doi.org/10.1371/journal.pone.0021791 PLoS ONE PLoS ONE, 6(7):e21791. Public Library of Science PLoS One, 6 PLoS ONE, Vol 6, Iss 7, p e21791 (2011) PLoS One, 6, 7 |
| ISSN: | 1932-6203 |
| DOI: | 10.1371/journal.pone.0021791 |
| Popis: | Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable. © 2011 Chen et al. published_or_final_version |
| Databáze: | OpenAIRE |
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