Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011

被引：81

作者：

Benn, Peter ^{[1
]}

Borrell, Antoni ^{[2
]}

Cuckle, Howard ^{[3
]}

Dugoff, Lorraine ^{[4
]}

Gross, Susan ^{[5
]}

Johnson, Jo-ann ^{[6
]}

Maymon, Ron ^{[7
]}

Odibo, Anthony ^{[8
]}

Schielen, Peter ^{[9
]}

Spencer, Kevin

Wright, Dave ^{[10
]}

Yaron, Yuval ^{[11
]}

机构：

[1] Univ Connecticut, Ctr Hlth, Dept Genet & Dev Biol, Farmington, CT USA

[2] Univ Barcelona, Prenatal Diag Unit, Inst Gynecol Obstet & Neonatol, Hosp Clin,Med Sch, Catalonia, Spain

[3] Columbia Univ, Dept Obstet & Gynecol, Med Ctr, New York, NY USA

[4] Univ Penn, Dept Obstet & Gynecol, Philadelphia, PA 19104 USA

[5] Albert Einstein Coll Med, Dept Obstet & Gynecol, New York, NY USA

[6] Univ Calgary, Dept Obstet & Gynecol, Calgary, AB, Canada

[7] Tel Aviv Univ, Dept Obstet & Gynecol, Assaf Harofe Med Ctr, Sackler Fac Med, IL-69978 Tel Aviv, Israel

[8] Washington Univ, Dept Obstet & Gynecol, St Louis, MO USA

[9] Natl Inst Publ Hlth & Environm RIVM, Lab Infect Dis & Perinatal Screening, Bilthoven, Netherlands

[10] Univ Plymouth, Dept Math & Stat, Plymouth PL4 8AA, Devon, England

[11] Sourasky Med Ctr, Prenatal Diag Unit, Genet Inst, Tel Aviv, Israel

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 01期

关键词：

DNA; FETAL CELLS; NUCLEIC ACIDS & PROTEINS; MATERNAL SERUM SCREENING; general cytogenetics; PRENATAL CYTOGENETICS; counseling; non-invasive; sequencing; DNA;

D O I：

10.1002/pd.2919

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1 / 2

页数：2

共 5 条

[1] Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011 [J].

Benn, Peter ;

Borrell, Antoni ;

Crossley, Jenny ;

Cuckle, Howard ;

Dugoff, Lorraine ;

Gross, Susan ;

Johnson, Jo-ann ;

Maymon, Ron ;

Odibo, Anthony ;

Schielen, Peter ;

Spencer, Kevin ;

Wright, Dave ;

Yaron, Yuval .

PRENATAL DIAGNOSIS, 2011, 31 (06) :519-522

[2] Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study [J].

Chiu, Rossa W. K. ;

Akolekar, Ranjit ;

Zheng, Yama W. L. ;

Leung, Tak Y. ;

Sun, Hao ;

Chan, K. C. Allen ;

Lun, Fiona M. F. ;

Go, Attie T. J. I. ;

Lau, Elizabeth T. ;

To, William W. K. ;

Leung, Wing C. ;

Tang, Rebecca Y. K. ;

Au-Yeung, Sidney K. C. ;

Lam, Helena ;

Kung, Yu Y. ;

Zhang, Xiuqing ;

van Vugt, John M. G. ;

Minekawa, Ryoko ;

Tang, Mary H. Y. ;

Wang, Jun ;

Oudejans, Cees B. M. ;

Lau, Tze K. ;

Nicolaides, Kypros H. ;

Lo, Y. M. Dennis .

BMJ-BRITISH MEDICAL JOURNAL, 2011, 342 :217

[3] Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting [J].

Ehrich, Mathias ;

Deciu, Cosmin ;

Zwiefelhofer, Tricia ;

Tynan, John A. ;

Cagasan, Lesley ;

Tim, Roger ;

Lu, Vivian ;

McCullough, Ron ;

McCarthy, Erin ;

Nygren, Anders O. H. ;

Dean, Jarrod ;

Tang, Lin ;

Hutchison, Don ;

Lu, Tim ;

Wang, Huiquan ;

Angkachatchai, Vach ;

Oeth, Paul ;

Cantor, Charles R. ;

Bombard, Allan ;

van den Boom, Dirk .

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2011, 204 (03)

[4] DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study [J].

Palomaki, Glenn E. ;

Kloza, Edward M. ;

Lambert-Messerlian, Geralyn M. ;

Haddow, James E. ;

Neveux, Louis M. ;

Ehrich, Mathias ;

van den Boom, Dirk ;

Bombard, Allan T. ;

Deciu, Cosmin ;

Grody, Wayne W. ;

Nelson, Stanley F. ;

Canick, Jacob A. .

GENETICS IN MEDICINE, 2011, 13 (11) :913-920

[5] Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood [J].

Sehnert, Amy J. ;

Rhees, Brian ;

Comstock, David ;

de Feo, Eileen ;

Heilek, Gabrielle ;

Burke, John ;

Rava, Richard P. .

CLINICAL CHEMISTRY, 2011, 57 (07) :1042-1049

← 1 →