Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis
Author:
Affiliation:
1. Department of Obstetrics and Gynecology, Iaso Maternity Hospital, Athens, Greece
2. Department of Clinical Biochemistry, Attikon University General Hospital, University of Athens Medical School, Athens, Greece
Abstract
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,Public Health, Environmental and Occupational Health,Health Policy,Medicine (miscellaneous)
Link
https://www.degruyter.com/document/doi/10.1515/dx-2015-0002/pdf
Reference79 articles.
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2. Petersen MB, Mikkelsen M. Non-disjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet 2000;91:199–203.
3. Evans MI, Henry GP, Miller WA, Bui TH, Snidjers RJ, Wapner RJ, et al. International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod 1999;14:1213–6.
4. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–7.
5. Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
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