The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing
Open accessAbstract
OBJECTIVE: We sought to report on laboratory and clinical experience following 6 months of clinical implementation of a single-nucleotide polymorphism-based noninvasive prenatal aneuploidy test in high- and low-risk women. STUDY DESIGN: All samples received from March through September 2013 and drawn ≥9 weeks' gestation were included. Samples that passed quality control were analyzed for trisomy 21, trisomy 18, trisomy 13, and monosomy X. Results were reported as high or low risk for fetal aneuploidy for each interrogated chromosome. Relationships between fetal fraction and gestational age and maternal weight were analyzed. Follow-up on outcome was sought for a subset of high-risk cases. False-negative results were reported voluntarily by providers. Positive predictive value (PPV) was calculated from cases with an available prenatal or postnatal karyotype or clinical evaluation at birth. RESULTS: Samples were received from 31,030 patients, 30,705 met study criteria, and 28,739 passed quality-control metrics and received a report detailing aneuploidy risk. Fetal fraction correlated positively with gestational age, and negatively with maternal weight. In all, 507 patients received a high-risk result for any of the 4 tested conditions (324 trisomy 21, 82 trisomy 18, 41 trisomy 13, 61 monosomy X; including 1 double aneuploidy case). Within the 17,885 cases included in follow-up analysis, 356 were high risk, and outcome information revealed 184 (51.7%) true positives, 38 (10.7%) false positives, 19 (5.3%) with ultrasound findings suggestive of aneuploidy, 36 (10.1%) spontaneous abortions without karyotype confirmation, 22 (6.2%) terminations without karyotype confirmation, and 57 (16.0%) lost to follow-up. This yielded an 82.9% PPV for all aneuploidies, and a 90.9% PPV for trisomy 21. The overall PPV for women aged ≥35 years was similar to the PPV for women aged <35 years. Two patients were reported as false negatives. CONCLUSION: The data from this large-scale report on clinical application of a commercially available noninvasive prenatal test suggest that the clinical performance of this single-nucleotide polymorphism-based noninvasive prenatal test in a mixed high- and low-risk population is consistent with performance in validation studies.
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
Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., Bombard, A. T., Deciu, C., Grody, W. W., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182368a0e · Cited by 939
Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012) · Obstetrics & Gynecology · doi:10.1097/aog.0b013e31824fb482 · Cited by 644
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F., Craig, J. A., Chudova, D. I., Devers, P. L., Jones, K. W., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1311037 · Cited by 620
Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., Rodriguez, M. H., Williams, J., Mitchell, M. E., Adair, C. D., et al. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.05.021 · Cited by 596
Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., Bombard, A. T., Grody, W. W., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2011.73 · Cited by 520
Ehrich, M., Deciu, C., Zwiefelhofer, T., Tynan, J. A., Cagasan, L., Tim, R., Lu, V., McCullough, R., McCarthy, E., Nygren, A. O. H., et al. (2011) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2010.12.060 · Cited by 472
DNA Sequencing Versus Standard Prenatal Aneuploidy Screening
Rochon, M. L. (2014) · Cited by 468
Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma
Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4119 · Cited by 440
Ashoor, G., Syngelaki, A., Poon, L. C. Y., Rezende, J. C., & Nicolaides, K. H. (2013) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12331 · Cited by 396
Sparks, A. B., Struble, C. A., Wang, E. T., Song, K., & Oliphant, A. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.01.030 · Cited by 395
Cited by
Benn, P., Borrell, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B., Gross, S., Huang, T., Johnson, J., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 292
Self-citationScreening for trisomies by cell-free DNA testing of maternal blood: Consequences of a failed result
Revello, R., Sarno, L., Ispas, A., Akolekar, R., & Nicolaides, K. H. (2016) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.15851 · Cited by 157
Hui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6357 · Cited by 109
Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies
Grati, F. R., Bajaj, K., Zanatta, V., Malvestiti, F., Malvestiti, B., Marcato, L., Grimi, B., Maggi, F., Simoni, G., Gross, S. J., et al. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5138 · Cited by 50
Self-citationThung, 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
- Dar, P., Curnow, K. J., Gross, S. J., Hall, M. P., Stosic, M., Demko, Z., Zimmermann, B., Hill, M., Sigurjonsson, S., Ryan, A., Banjevic, M., Kolacki, P. L., Koch, S. W., Strom, C. M., Rabinowitz, M., & Benn, P.
- Venue
- American Journal of Obstetrics and Gynecology
- Publisher
- Elsevier BV
- Published
- 2014-11
- Volume
- 211
- Issue
- 5
- Pages
- 527.e1-527.e17
- ISSN
- 0002-9378 (ISSN-L)
- OpenAlex
- W2069401773
- Cited by
- 277
- References
- 36
- FWCI
- 34.40
- Type
- journal article
- Language
- en
- Open access
- hybrid
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: Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing. https://app.cochat.ai/papers/10.1016/j.ajog.2014.08.006
- The paper
- Dar, P., Curnow, K. J., Gross, S. J., Hall, M. P., Stosic, M., Demko, Z., Zimmermann, B., Hill, M., Sigurjonsson, S., Ryan, A., Banjevic, M., Kolacki, P. L., Koch, S. W., Strom, C. M., Rabinowitz, M., & Benn, P. (2014). Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing. American Journal of Obstetrics and Gynecology. https://doi.org/10.1016/j.ajog.2014.08.006
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.
