The DOI matches its Crossref record.
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma
Open accessAbstract
Objective: Whole‐genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common autosomal aneuploidies. The purpose of this study was to extend the detection to include common sex chromosome aneuploidies (SCAs): [47,XXX], [45,X], [47,XXY], and [47,XYY] syndromes. Method: Massively parallel sequencing was performed on ccf DNA isolated from the plasma of 1564 pregnant women with known fetal karyotype. A classification algorithm for SCA detection was constructed and trained on this cohort. Another study of 411 maternal samples from women with blinded‐to‐laboratory fetal karyotypes was then performed to determine the accuracy of the classification algorithm. Results: In the training cohort, the new algorithm had a detection rate (DR) of 100% (95%CI: 82.3%, 100%), a false positive rate (FPR) of 0.1% (95%CI: 0%, 0.3%), and nonreportable rate of 6% (95%CI: 4.9%, 7.4%) for SCA determination. The blinded validation yielded similar results: DR of 96.2% (95%CI: 78.4%, 99.8%), FPR of 0.3% (95%CI: 0%, 1.8%), and nonreportable rate of 5% (95%CI: 3.2%, 7.7%) for SCA determination Conclusion: Noninvasive prenatal identification of the most common sex chromosome aneuploidies is possible using ccf DNA and massively parallel sequencing with a high DR and a low FPR. © 2013 John Wiley & Sons, Ltd.
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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
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
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
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
Jaramillo, C., Nyquist, C., Riggan, K. A., Egginton, J., Phelan, S., & Allyse, M. (2019) · Clinical Pediatrics · doi:10.1177/0009922818817310 · Cited by 39
Metadata
- Authors
- Mazloom, A. R., Džakula, Ž., Oeth, P., Wang, H., Jensen, T., Tynan, J., McCullough, R., Saldivar, J., Ehrich, M., van den Boom, D., Bombard, A. T., Maeder, M., McLennan, G., Meschino, W., Palomaki, G. E., Canick, J. A., & Deciu, C.
- Venue
- Prenatal Diagnosis
- Publisher
- Wiley
- Published
- 2013-05-17
- Volume
- 33
- Issue
- 6
- Pages
- 591-597
- ISSN
- 0197-3851 (ISSN-L)
- 1097-0223
- OpenAlex
- W1517689472
- Cited by
- 200
- References
- 0
- FWCI
- 26.28
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mazloom, A. R., Džakula, Ž., Oeth, P., Wang, H., Jensen, T., Tynan, J., McCullough, R., Saldivar, J., Ehrich, M., van den Boom, D., Bombard, A. T., Maeder, M., McLennan, G., Meschino, W., Palomaki, G. E., Canick, J. A., & Deciu, C. (2013). Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma. Prenatal Diagnosis. https://doi.org/10.1002/pd.4127
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