The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy
Open accessAbstract
Objective: To develop a novel prenatal assay based on selective analysis of cell‐free DNA in maternal blood for evaluation of fetal Trisomy 21 (T21) and Trisomy 18 (T18). Methods: Two hundred ninety‐eight pregnancies, including 39 T21 and seven T18 confirmed fetal aneuploidies, were analyzed using a novel, highly multiplexed assay, termed digital analysis of selected regions (DANSR™). Cell‐free DNA from maternal blood samples was analyzed using DANSR assays for loci on chromosomes 21 and 18. Products from 96 separate patients were pooled and sequenced together. A standard Z‐test of chromosomal proportions was used to distinguish aneuploid samples from average‐risk pregnancy samples. DANSR aneuploidy discrimination was evaluated at various sequence depths. Results: At the lowest sequencing depth, corresponding to 204 000 sequencing counts per sample, average‐risk cases where distinguished from T21 and T18 cases, with Z statistics for all cases exceeding 3.6. Increasing the sequencing depth to 410 000 counts per sample substantially improved separation of aneuploid and average‐risk cases. A further increase to 620 000 counts per sample resulted in only marginal improvement. This depth of sequencing represents less than 5% of that required by massively parallel shotgun sequencing approaches. Conclusion: Digital analysis of selected regions enables highly accurate, cost efficient, and scalable noninvasive fetal aneuploidy assessment. © 2012 John Wiley & Sons, Ltd.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
David, F. N., & Tukey, J. W. (1977) · Biometrics · doi:10.2307/2529486 · Cited by 12,708
Practical Nonparametric Statistics
Groggel, D. J. (2000) · Technometrics · doi:10.1080/00401706.2000.10486067 · Cited by 11,041
Summaries of Affymetrix GeneChip probe level data
Irizarry, R. A. (2003) · Nucleic Acids Research · doi:10.1093/nar/gng015 · Cited by 4,887
Practical Nonparametric Statistics
Bhapkar, V. P., & Conover, W. J. (1972) · Technometrics · doi:10.1080/00401706.1972.10488994 · Cited by 1,505
An Extension of Shapiro and Wilk's W Test for Normality to Large Samples
Royston, J. P. (1982) · Applied Statistics · doi:10.2307/2347973 · Cited by 1,399
Osborn, J. F., & Tukey, J. W. (1978) · Journal of the Royal Statistical Society. Series A (General) · doi:10.2307/2344492 · Cited by 1,190
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808319105 · Cited by 1,114
Chiu, R. W. K., Chan, K. C. A., Gao, Y., Lau, V. Y. M., Zheng, W., Leung, T. Y., Foo, C. H. F., Xie, B., Tsui, N. B. Y., Lun, F. M. F., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810641105 · Cited by 942
Chiu, R. W. K., Akolekar, R., Zheng, Y. W. L., Leung, T. Y., Sun, H., Chan, K. C. A., Lun, F. M. F., Go, A. T. J. I., Lau, E. T., To, W. W. K., et al. (2011) · BMJ · doi:10.1136/bmj.c7401 · Cited by 774
Screening for fetal aneuploidies at 11 to 13 weeks
Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2637 · Cited by 642
Cited by
Cell-free DNA Analysis for Noninvasive Examination of Trisomy
Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., Tomlinson, M. W., Pereira, L., Spitz, J. L., Hollemon, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1407349 · Cited by 817
Self-citationNoninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
Nicolaides, K. H., Syngelaki, A., Ashoor, G., Birdir, C., & Touzet, G. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.08.033 · Cited by 624
Pergament, E., Cuckle, H., Zimmermann, B., Banjevic, M., Sigurjonsson, S., Ryan, A., Hall, M. P., Dodd, M., Lacroute, P., Stosic, M., et al. (2014) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000000363 · Cited by 284
Thung, D. T., Beulen, L., Hehir-Kwa, J., & Faas, B. H. (2015) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2015.973857 · Cited by 20
Metadata
- Authors
- Sparks, A. B., Wang, E. T., Struble, C. A., Barrett, W., Stokowski, R., McBride, C., Zahn, J., Lee, K., Shen, N., Doshi, J., Sun, M., Garrison, J., Sandler, J., Hollemon, D., Pattee, P., Tomita‐Mitchell, A., Mitchell, M., Stuelpnagel, J., Song, K., & Oliphant, A.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2012-01
- Volume
- 32
- Issue
- 1
- Pages
- 3-9
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W2171812329
- Cited by
- 266
- References
- 20
- FWCI
- 36.26
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy. https://app.cochat.ai/papers/10.1002/pd.2922
- The paper
- Sparks, A. B., Wang, E. T., Struble, C. A., Barrett, W., Stokowski, R., McBride, C., Zahn, J., Lee, K., Shen, N., Doshi, J., Sun, M., Garrison, J., Sandler, J., Hollemon, D., Pattee, P., Tomita‐Mitchell, A., Mitchell, M., Stuelpnagel, J., Song, K., & Oliphant, A. (2012). Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy. Prenatal Diagnosis. https://doi.org/10.1002/pd.2922
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
