Noninvasive prenatal diagnosis in 2020

Prenatal Diagnosis

Volumn 30, Issue 7, 2010, Pages 702-703

  Dennis Lo, Y M ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Chromosomal aneuploidy; Genomics; Massively parallel sequencing; Monogenic disease; Next generation sequencing; Plasma DNA

Indexed keywords

ANEUPLOIDY; CELL FREE SYSTEM; CHROMOSOME ABERRATION; COST UTILITY ANALYSIS; DIAGNOSTIC PROCEDURE; DNA MICROARRAY; DNA SEQUENCE; EPIGENETIC ALLELIC RATIO METHOD; MICROARRAY ANALYSIS; NON INVASIVE MEASUREMENT; NUCLEIC ACID ANALYSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT SURVEY; TRISOMY 18; FEMALE; FETAL DISEASES; FETUS; GENETIC DISEASES, INBORN; GENETICS; HUMAN; PREGNANCY; PROCEDURES;

ANEUPLOIDY; FEMALE; FETAL DISEASES; FETUS; GENETIC DISEASES, INBORN; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 77954101135     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2516     Document Type: Short Survey

References (10)

1. 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.
2. 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.
3. Lo YMD, Corbetta N, Chamberlain PF, et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
4. Lo YMD, Lun FMF, Chan KCA, et al. 2007a. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc Natl Acad Sci U S A 104: 13116-13121.
5. Lo YMD, Tein MS, Lau TK, et al. 1998. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62: 768-775.
6. Lo YMD, Tsui NB, Chiu RWK, et al. 2007b. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 13: 218-223.
7. Lun FMF, Tsui NBY, Chan KCA, et al. 2008. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci U S A 105: 19920-19925.
8. Mamanova L, Coffey AJ, Scott CE, et al. 2010. Target-enrichment strategies for next-generation sequencing. Nat Methods 7: 111-118.
9. Tong YK, Ding C, Chiu RWK, et al. 2006. Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations. Clin Chem 52: 2194-2202.
10. Tong YK, Jin S, Chiu RW, et al. 2010. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 56: 90-98.