The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
Abstract
Maternal plasma contains circulating cell‐free DNA fragments originating from both the mother and the placenta. The proportion derived from the placenta is known as the fetal fraction. When measured between 10 and 20 gestational weeks, the average fetal fraction in the maternal plasma is 10% to 15% but can range from under 3% to over 30%. Screening performance using next‐generation sequencing of circulating cell‐free DNA is better with increasing fetal fraction and, generally, samples whose values are less than 3% or 4% are unsuitable. Three examples of the clinical impact of fetal fraction are discussed. First, the distribution of test results for Down syndrome pregnancies improves as fetal fraction increases, and this can be exploited in reporting patient results. Second, the strongest factor associated with fetal fraction is maternal weight; the false negative rate and rate of low fetal fractions are highest for women with high maternal weights. Third, in a mosaic, the degree of mosaicism will impact the performance of the test because it will reduce the effective fetal fraction. By understanding these aspects of the role of fetal fraction in maternal plasma DNA testing for aneuploidy, we can better appreciate the power and the limitations of this impressive new methodology. © 2013 John Wiley & Sons, Ltd.
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Cites
Presence of fetal DNA in maternal plasma and serum
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Self-citationGenome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing
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Microfluidics 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
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Cited by
on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG), Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.57 · Cited by 349
Sequencing of Circulating Cell-free DNA during Pregnancy
Bianchi, D. W., & Chiu, R. W. K. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1705345 · Cited by 313
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
Dar, P., Curnow, K. J., Gross, S. J., Hall, M. P., Stosic, M., Demko, Z., Zimmermann, B., Hill, M., Sigurjonsson, S., Ryan, A., et al. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.08.006 · Cited by 277
Care of Women with Obesity in Pregnancy: Green‐top Guideline No. 72
Denison, F., Aedla, N., Keag, O., Hor, K., Reynolds, R., Milne, A., Diamond, A., & the Royal College of Obstetricians and Gynaecologists (2019) · BJOG: An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.15386 · Cited by 264
Metadata
- Authors
- Canick, J. A., Palomaki, G. E., Kloza, E. M., Lambert‐Messerlian, G. M., & Haddow, J. E.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2013-05-31
- Volume
- 33
- Issue
- 7
- Pages
- 667-674
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W1720911209
- Cited by
- 360
- References
- 15
- FWCI
- 28.79
- Type
- journal article
- Language
- en
- Open access
- closed
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- Canick, J. A., Palomaki, G. E., Kloza, E. M., Lambert‐Messerlian, G. M., & Haddow, J. E. (2013). The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenatal Diagnosis. https://doi.org/10.1002/pd.4126
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