The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma
Open accessAbstract
Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally inherited traits or mutations has been achieved. Due to the presence of background maternal DNA, which interferes with the analysis of fetal DNA in maternal plasma, noninvasive prenatal diagnosis of maternally inherited mutations has not been possible. Here we describe a digital relative mutation dosage (RMD) approach that determines if the dosages of the mutant and wild-type alleles of a disease-causing gene are balanced or unbalanced in maternal plasma. When applied to the testing of women heterozygous for the CD41/42 (–CTTT) and hemoglobin E mutations on HBB , digital RMD allows the fetal genotype to be deduced. The diagnostic performance of digital RMD is dependent on interplay between the fractional fetal DNA concentration and number of DNA molecules in maternal plasma. To achieve fetal genotype diagnosis at lower volumes of maternal plasma, fetal DNA enrichment is desired. We thus developed a digital nucleic acid size selection (NASS) strategy that effectively enriches the fetal DNA without additional plasma sampling or experimental time. We show that digital NASS can work in concert with digital RMD to increase the proportion of cases with classifiable fetal genotypes and to bring noninvasive prenatal diagnosis of monogenic diseases closer to reality.
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Cites
Presence of fetal DNA in maternal plasma and serum
Lo, Y. M. D., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., & Wainscoat, J. S. (1997) · The Lancet · doi:10.1016/s0140-6736(97)02174-0 · Cited by 3,129
Self-citationVogelstein, B., & Kinzler, K. W. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.16.9236 · Cited by 1,770
Lo, Y. M. D., Tein, M. S. C., Lau, T. K., Haines, C. J., Leung, T. N., Poon, P. M. K., Wainscoat, J. S., Johnson, P. J., Chang, A. M. Z., & Hjelm, N. M. (1998) · The American Journal of Human Genetics · doi:10.1086/301800 · Cited by 1,653
Self-citationSingle-Molecule DNA Sequencing of a Viral Genome
Harris, T. D., Buzby, P. R., Babcock, H., Beer, E., Bowers, J., Braslavsky, I., Causey, M., Colonell, J., DiMeo, J., Efcavitch, J. W., et al. (2008) · Science · doi:10.1126/science.1150427 · Cited by 690
Size Distributions of Maternal and Fetal DNA in Maternal Plasma
Chan, K. C. A., Zhang, J., Hui, A. B. Y., Wong, N., Lau, T. K., Leung, T. N., Lo, K.-W., Huang, D. W. S., & Lo, Y. M. D. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.024893 · Cited by 584
Self-citationDigital PCR for the molecular detection of fetal chromosomal aneuploidy
Lo, Y. M. D., Lun, F. M. F., Chan, K. C. A., Tsui, N. B. Y., Chong, K. C., Lau, T. K., Leung, T. Y., Zee, B. C. Y., Cantor, C. R., & Chiu, R. W. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705765104 · Cited by 434
Self-citationMicrofluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma
Lun, F. M. F., Chiu, R. W. K., Allen Chan, K. C., Yeung Leung, T., Kin Lau, T., & Dennis Lo, Y. M. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2008.111385 · Cited by 433
Self-citationPlasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
Lo, Y. M. D., Tsui, N. B. Y., Chiu, R. W. K., Lau, T. K., Leung, T. N., Heung, M. M. S., Gerovassili, A., Jin, Y., Nicolaides, K. H., Cantor, C. R., et al. (2007) · Nature Medicine · doi:10.1038/nm1530 · Cited by 379
Self-citationChan, K. A., Ding, C., Gerovassili, A., Yeung, S. W., Chiu, R. W., Leung, T. N., Lau, T. K., Chim, S. S., Chung, G. T., Nicolaides, K. H., et al. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.074997 · Cited by 343
Self-citationDetection of the placental epigenetic signature of the maspin gene in maternal plasma
Chim, S. S. C., Tong, Y. K., Chiu, R. W. K., Lau, T. K., Leung, T. N., Chan, L. Y. S., Oudejans, C. B. M., Ding, C., & Lo, Y. M. D. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503335102 · Cited by 327
Self-citation
Cited by
Detection of Solid Tumor Molecular Residual Disease (MRD) Using Circulating Tumor DNA (ctDNA)
Chin, R.-I., Chen, K., Usmani, A., Chua, C., Harris, P. K., Binkley, M. S., Azad, T. D., Dudley, J. C., & Chaudhuri, A. A. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00390-5 · Cited by 191
Hahn, S., Jackson, L. G., Kolla, V., Mahyuddin, A. P., & Choolani, M. (2009) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.09.43 · Cited by 32
Metadata
- Authors
- Lun, F. M. F., Tsui, N. B. Y., Chan, K. C. A., Leung, T. Y., Lau, T. K., Charoenkwan, P., Chow, K. C. K., Lo, W. Y. W., Wanapirak, C., Sanguansermsri, T., Cantor, C. R., Chiu, R. W. K., & Lo, Y. M. D.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2008-12-16
- Volume
- 105
- Issue
- 50
- Pages
- 19920-19925
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2089486503
- Cited by
- 355
- References
- 25
- FWCI
- 15.23
- Type
- journal article
- Language
- en
- Open access
- green
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- Lun, F. M. F., Tsui, N. B. Y., Chan, K. C. A., Leung, T. Y., Lau, T. K., Charoenkwan, P., Chow, K. C. K., Lo, W. Y. W., Wanapirak, C., Sanguansermsri, T., Cantor, C. R., Chiu, R. W. K., & Lo, Y. M. D. (2008). Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0810373105
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