The DOI matches its Crossref record; 96 of the 96 references it cites were found in a registry or an index.
The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis
Abstract
BACKGROUND: Cell-free fetal nucleic acids (cffNA) can be detected in the maternal circulation during pregnancy, potentially offering an excellent method for early non-invasive prenatal diagnosis (NIPD) of the genetic status of a fetus. Using molecular techniques, fetal DNA and RNA can be detected from 5 weeks gestation and are rapidly cleared from the circulation following birth. METHODS: We searched PubMed systematically using keywords free fetal DNA and NIPD. Reference lists from relevant papers were also searched to ensure comprehensive coverage of the area. RESULTS: Cell-free fetal DNA comprises only 3-6% of the total circulating cell-free DNA, therefore diagnoses are primarily limited to those caused by paternally inherited sequences as well as conditions that can be inferred by the unique gene expression patterns in the fetus and placenta. Broadly, the potential applications of this technology fall into two categories: first, high genetic risk families with inheritable monogenic diseases, including sex determination in cases at risk of X-linked diseases and detection of specific paternally inherited single gene disorders; and second, routine antenatal care offered to all pregnant women, including prenatal screening/diagnosis for aneuploidy, particularly Down syndrome (DS), and diagnosis of Rhesus factor status in RhD negative women. Already sex determination and Rhesus factor diagnosis are nearing translation into clinical practice for high-risk individuals. CONCLUSIONS: The analysis of cffNA may allow NIPD for a variety of genetic conditions and may in future form part of national antenatal screening programmes for DS and other common genetic disorders.
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
The American Journal of Human Genetics
S., J. (1950) · Population (French Edition) · doi:10.2307/1523704 · Cited by 5,028
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
Jahr, S., Hentze, H., Englisch, S., Hardt, D., Fackelmayer, F. O., Hesch, R. D., & Knippers, R. (2001) · PubMed · Cited by 2,169
(1977) · PubMed · Cited by 1,801
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
Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum
Bianchi, D. W., Zickwolf, G. K., Weil, G. J., Sylvester, S., & DeMaria, M. A. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.2.705 · Cited by 1,264
Nuclear Acids In Human Blood Plasma.
Mandel, P., & Métais, P. (1948) · PubMed · Cited by 1,196
Rapid Clearance of Fetal DNA from Maternal Plasma
Lo, Y. M. D., Zhang, J., Leung, T. N., Lau, T. K., Chang, A. M. Z., & Hjelm, N. M. (1999) · The American Journal of Human Genetics · doi:10.1086/302205 · Cited by 1,157
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
Detection and Characterization of Placental MicroRNAs in Maternal Plasma
Chim, S. S. C., Shing, T. K. F., Hung, E. C. W., Leung, T.-Y., Lau, T.-K., Chiu, R. W. K., & Dennis Lo, Y. M. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2007.097972 · Cited by 850
Cited by
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
Hindson, B. J., Ness, K. D., Masquelier, D. A., Belgrader, P., Heredia, N. J., Makarewicz, A. J., Bright, I. J., Lucero, M. Y., Hiddessen, A. L., Legler, T. C., et al. (2011) · Analytical Chemistry · doi:10.1021/ac202028g · Cited by 2,792
Extracellular vesicles: roles in gamete maturation, fertilization and embryo implantation
Machtinger, R., Laurent, L. C., & Baccarelli, A. A. (2015) · Human Reproduction Update · doi:10.1093/humupd/dmv055 · Cited by 426
Non-invasive prenatal testing: a review of international implementation and challenges
Allyse, M., Minear, M., Rote, M., Hung, A., Chandrasekharan, S., Berson, E., & Sridhar, S. (2015) · International Journal of Women's Health · doi:10.2147/ijwh.s67124 · Cited by 364
An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia
Abraham, M., Yuen, T., Lekarev, O., & New, M. (2012) · Seminars in Reproductive Medicine · doi:10.1055/s-0032-1324723 · Cited by 64
Vanstone, M., Yacoub, K., Giacomini, M., Hulan, D., & McDonald, S. (2015) · Qualitative Health Research · doi:10.1177/1049732315589745 · Cited by 46
Metadata
- Authors
- Wright, C. F., & Burton, H.
- Venue
- Human Reproduction Update
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-10-22
- Volume
- 15
- Issue
- 1
- Pages
- 139-151
- ISSN
- 1355-4786 (ISSN-L)
- 1460-2369
- OpenAlex
- W2140023356
- Cited by
- 257
- References
- 96
- FWCI
- 15.77
- Type
- journal article
- Language
- en
- Open access
- closed
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: The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. https://app.cochat.ai/papers/10.1093/humupd/dmn047
- The paper
- Wright, C. F., & Burton, H. (2008). The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Human Reproduction Update. https://doi.org/10.1093/humupd/dmn047
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.
