Non-invasive prenatal diagnosis by single molecule counting technologies

被引：90

作者：

Chiu, Rossa W. K. ^{[1
,2
]}

Cantor, Charles R. ^{[3
]}

Lo, Y. M. Dennis ^{[1
,2
]}

机构：

[1] Chinese Univ Hong Kong, Prince Wales Hosp, Li Ka Shing Inst Hlth Sci, Ctr Res Circulating Fetal Nucle Acids, Shatin, Hong Kong, Peoples R China

[2] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Shatin, Hong Kong, Peoples R China

[3] Sequenom Inc, San Diego, CA 92121 USA

来源：

TRENDS IN GENETICS | 2009年 / 25卷 / 07期

关键词：

FETAL CHROMOSOMAL ANEUPLOIDY; MATERNAL PLASMA; DIGITAL PCR; NUCLEIC-ACIDS; DNA-METHYLATION; FUTURE-PROSPECTS; DOWNS-SYNDROME; BLOOD; SERUM; FORMALDEHYDE;

D O I：

10.1016/j.tig.2009.05.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases by analysing fetal DNA present in maternal plasma poses a challenging goal. In particular, the presence of background maternal DNA interferes with the analysis of fetal DNA. Using single molecule counting methods, including digital PCR and massively parallel sequencing, many of the former problems have been solved. Digital mutation dosage assessment can detect the number of mutant alleles a fetus has inherited from its parents for fetal monogenic disease diagnosis, and massively parallel plasma DNA sequencing enables the direct detection of fetal chromosomal aneuploidies from maternal plasma. The analytical power of these methods, namely sensitivity, specificity, accuracy and precision, should catalyse the eventual clinical use of non-invasive prenatal diagnosis.

引用

页码：324 / 331

页数：8

共 53 条

[1] Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast [J].

Alberry, M. ;

Maddocks, D. ;

Jones, M. ;

Hadi, M. Abdel ;

Abdel-Fattah, S. ;

Avent, N. ;

Soothill, P. W. .

PRENATAL DIAGNOSIS, 2007, 27 (05) :415-418

[2] Profile of the Circulating DNA in Apparently Healthy Individuals [J].

Beck, Julia ;

Urnovitz, Howard B. ;

Riggert, Joachim ;

Clerici, Mario ;

Schuetz, Ekkehard .

CLINICAL CHEMISTRY, 2009, 55 (04) :730-738

[3]

Benachi A, 2005, CLIN CHEM, V51, P242

[4] Accurate whole human genome sequencing using reversible terminator chemistry [J].

Bentley, David R. ;

Balasubramanian, Shankar ;

Swerdlow, Harold P. ;

Smith, Geoffrey P. ;

Milton, John ;

Brown, Clive G. ;

Hall, Kevin P. ;

Evers, Dirk J. ;

Barnes, Colin L. ;

Bignell, Helen R. ;

Boutell, Jonathan M. ;

Bryant, Jason ;

Carter, Richard J. ;

Cheetham, R. Keira ;

Cox, Anthony J. ;

Ellis, Darren J. ;

Flatbush, Michael R. ;

Gormley, Niall A. ;

Humphray, Sean J. ;

Irving, Leslie J. ;

Karbelashvili, Mirian S. ;

Kirk, Scott M. ;

Li, Heng ;

Liu, Xiaohai ;

Maisinger, Klaus S. ;

Murray, Lisa J. ;

Obradovic, Bojan ;

Ost, Tobias ;

Parkinson, Michael L. ;

Pratt, Mark R. ;

Rasolonjatovo, Isabelle M. J. ;

Reed, Mark T. ;

Rigatti, Roberto ;

Rodighiero, Chiara ;

Ross, Mark T. ;

Sabot, Andrea ;

Sankar, Subramanian V. ;

Scally, Aylwyn ;

Schroth, Gary P. ;

Smith, Mark E. ;

Smith, Vincent P. ;

Spiridou, Anastassia ;

Torrance, Peta E. ;

Tzonev, Svilen S. ;

Vermaas, Eric H. ;

Walter, Klaudia ;

Wu, Xiaolin ;

Zhang, Lu ;

Alam, Mohammed D. ;

Anastasi, Carole .

NATURE, 2008, 456 (7218) :53-59

[5] Fetomaternal cell traffic, pregnancy-associated progenitor cells, and autoimmune disease [J].

Bianchi, DW .

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY, 2004, 18 (06) :959-975

[6] Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data [J].

Bianchi, DW ;

Simpson, JL ;

Jackson, LG ;

Elias, S ;

Holzgreve, W ;

Evans, MI ;

Dukes, KA ;

Sullivan, LM ;

Klinger, KW ;

Bischoff, FZ ;

Hahn, S ;

Johnson, KL ;

Lewis, D ;

Wapner, RJ .

PRENATAL DIAGNOSIS, 2002, 22 (07) :609-615

[7] Size distributions of maternal and fetal DNA in maternal plasma [J].

Chan, KCA ;

Zhang, J ;

Hui, ABY ;

Wong, N ;

Lau, TK ;

Leung, TN ;

Lo, KW ;

Huang, DWS ;

Lo, YMD .

CLINICAL CHEMISTRY, 2004, 50 (01) :88-92

[8] Detection of the placental epigenetic signature of the maspin gene in maternal plasma [J].

Chim, SSC ;

Tong, YK ;

Chiu, RWK ;

Lau, TK ;

Leung, TN ;

Chan, LYS ;

Oudejans, CBM ;

Ding, CM ;

Lo, YMD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (41) :14753-14758

[9] Systematic search for placental DNA-methylation markers on chromosome 21: Toward a maternal plasma-based epigenetic test for fetal trisomy 21 [J].

Chim, Stephen S. C. ;

Jin, Shengnan ;

Lee, Tracy Y. H. ;

Lun, Fiona M. F. ;

Lee, Wing S. ;

Chan, Lisa Y. S. ;

Jin, Yongjie ;

Yang, Ningning ;

Tong, Yu K. ;

Leung, Tak Y. ;

Lau, Tze K. ;

Ding, Chunming ;

Chiu, Rossa W. K. ;

Lo, Y. M. Dennis .

CLINICAL CHEMISTRY, 2008, 54 (03) :500-511

[10] Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma [J].

Chinnapapagari, SKR ;

Holzgreve, W ;

Lapaire, O ;

Zimmermann, B ;

Hahn, S .

CLINICAL CHEMISTRY, 2005, 51 (03) :652-655

← 1 2 3 4 5 6 →