Biomedical Engineering Reference
In-Depth Information
Bianchi DW (1999) Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J
Haematol 105:574-583
Bianchi DW, Williams JM, Sullivan LM et al (1997) PCR quantitation of fetal cells in maternal
blood in normal and aneuploid pregnancies. Am J Hum Genet 61:822-829. doi: 10.1086/514885
Bianchi DW, Avent ND, Costa J-M, van der Schoot CE (2005) Noninvasive prenatal diagnosis of
fetal Rhesus D: ready for Prime(r) Time. Obstet Gynecol 106:841-844. doi: 10.1097/01.
AOG.0000179477.59385.93
Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ et al (2008) New strategy for the
prenatal detection/exclusion of paternal cystic fi brosis mutations in maternal plasma. J Cyst
Fibros 7:505-510. doi: 10.1016/j.jcf.2008.05.006
Canick JA, Palomaki GE, Kloza EM et al (2013) The impact of maternal plasma DNA fetal frac-
tion on next-generation sequencing tests for common fetal aneuploidies. Prenat Diagn
33(7):667-674. doi: 10.1002/pd.4126
Chan KCA, Zhang J, Hui ABY et al (2004) Size distributions of maternal and fetal DNA in mater-
nal plasma. Clin Chem 50:88-92. doi : 10.1373/clinchem.2003.024893
Chen EZ, Chiu RWK, Sun H et al (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and
trisomy 13 by maternal plasma DNA sequencing. PLoS One 6:e21791. doi: 10.1371/journal.
pone.0021791
Chiu RWK, Lau TK, Cheung PT et al (2002a) Noninvasive prenatal exclusion of congenital adre-
nal hyperplasia by maternal plasma analysis: a feasibility study. Clin Chem 48:778-780
Chiu RWK, Lau TK, Leung TN et al (2002b) Prenatal exclusion of beta thalassaemia major by
examination of maternal plasma. Lancet 360:998-1000
Chiu RWK, Chan KCA, Gao Y et al (2008) Noninvasive prenatal diagnosis of fetal chromosomal
aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl
Acad Sci U S A 105:20458-20463. doi: 10.1073/pnas.0810641105
Chiu RWK, Sun H, Akolekar R et al (2010) Maternal plasma DNA analysis with massively paral-
lel sequencing by ligation for noninvasive prenatal diagnosis of trisomy 21. Clin Chem 56:459-
463. doi: 10.1373/clinchem.2009.136507
Chiu RWK, Akolekar R, Zheng YWL et al (2011) Non-invasive prenatal assessment of trisomy 21
by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 342:c7401
Dhallan R, Au W-C, Mattagajasingh S et al (2004) Methods to increase the percentage of free
fetal DNA recovered from the maternal circulation. JAMA 291:1114-1119. doi: 10.1001/jama.
291.9.1114
Ding C, Chiu RWK, Lau TK et al (2004) MS analysis of single-nucleotide differences in circulating
nucleic acids: application to noninvasive prenatal diagnosis. Proc Natl Acad Sci U S A
101:10762-10767. doi: 10.1073/pnas.0403962101
Driscoll DA, Gross SJ, Professional Practice Guidelines Committee (2009) Screening for fetal
aneuploidy and neural tube defects. Genet Med 11:818-821. doi: 10.1097/GIM.0b013e3181bb267b
Ehrich M, Deciu C, Zwiefelhofer T et al (2011) Noninvasive detection of fetal trisomy 21 by
sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol
204:205.e1-11. doi: 10.1016/j.ajog.2010.12.060
Fan HC, Blumenfeld YJ, Chitkara U et al (2008) Noninvasive diagnosis of fetal aneuploidy by
shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A 105:16266-16271.
doi: 10.1073/pnas.0808319105
Hahn S, Lapaire O, Tercanli S et al (2011) Determination of fetal chromosome aberrations from
fetal DNA in maternal blood: has the challenge fi nally been met? Expert Rev Mol Med 13:e16.
doi: 10.1017/S1462399411001852
Jackson L (2003) Fetal cells and DNA in maternal blood. Prenat Diagn 23:837-846. doi: 10.1002/
pd.705
Li Y, Page-Christiaens GCML, Gille JJP et al (2007) Non-invasive prenatal detection of achondro-
plasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. Prenat Diagn 27:11-17.
doi: 10.1002/pd.1608
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