Noninvasive fetal whole-genome sequencing from maternal plasma: Feasibility studies and future directions

Clinical Chemistry

Volumn 59, Issue 4, 2013, Pages 601-603

  Lo, Y M Dennis ^a,b  

^a Li Ka Shing Institute of Health Sciences   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; BETA THALASSEMIA; DNA DETERMINATION; DNA SEQUENCE; FEASIBILITY STUDY; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOME; GENOTYPE; HAPLOTYPE; HUMAN; MATERNAL PLASMA; PRENATAL DIAGNOSIS; REVIEW; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

BLOOD; FEASIBILITY STUDIES; FEMALE; FETUS; GENOME, HUMAN; HUMANS; PREGNANCY;

EID: 84875857411     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2012.191098     Document Type: Review

References (5)

1. Lo YMD, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350: 485-7.
2. Lo YMD, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010;2:61ra91.
3. Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012; 4:137ra76.
4. Lam KWG, Jiang P, Liao GJW, Chan KCA, Leung TY, Chiu RWK, Lo YMD. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. Clin Chem 2012;58:1467-75.
5. Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR. Non-invasive prenatal measurement of the fetal genome. Nature 2012;487:320-4.