Prenatal genetic care: debates and considerations of the past, present and future

被引:5
作者
Faas, Brigitte H. W. [1 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Clin Lab Geneticist, NL-6525 ED Nijmegen, Netherlands
关键词
array analysis; commercialization; massively parallel sequencing; noninvasive prenatal testing; prenatal; variants of unknown or uncertain clinical relevance; CELL-FREE DNA; MATERNAL PLASMA; FETAL DNA;
D O I
10.1517/14712598.2015.1045873
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
After karyotyping invasively obtained fetal material for decades, the field of prenatal genetic care has changed tremendously since the turn of the century. The introduction of novel technologies and strategies went along with concerns and debates, in which key issues were costs, the finding of variants of unknown or uncertain clinical relevance, commercialization and ethical and social issues. At present, there is an explosion of new genomic technologies, which need critical assessment prior to implementation, especially in the prenatal field. The key issues of the debates we had in the past will again play a major role in guiding us toward careful implementation of these new techniques in future.
引用
收藏
页码:1101 / 1105
页数:5
相关论文
共 17 条
[1]   Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis [J].
Akolekar, R. ;
Beta, J. ;
Picciarelli, G. ;
Ogilvie, C. ;
D'Antonio, F. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (01) :16-26
[2]   DNA Sequencing versus Standard Prenatal Aneuploidy Screening [J].
Bianchi, Diana W. ;
Parker, R. Lamar ;
Wentworth, Jeffrey ;
Madankumar, Rajeevi ;
Saffer, Craig ;
Das, Anita F. ;
Craig, Joseph A. ;
Chudova, Darya I. ;
Devers, Patricia L. ;
Jones, Keith W. ;
Oliver, Kelly ;
Rava, Richard P. ;
Sehnert, Amy J. .
NEW ENGLAND JOURNAL OF MEDICINE, 2014, 370 (09) :799-808
[3]   Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing [J].
Dar, Pe'er ;
Curnow, Kirsten J. ;
Gross, Susan J. ;
Hall, Megan P. ;
Stosic, Melissa ;
Demko, Zachary ;
Zimmermann, Bernhard ;
Hill, Matthew ;
Sigurjonsson, Styrmir ;
Ryan, Allison ;
Banjevic, Milena ;
Kolacki, Paula L. ;
Koch, Susan W. ;
Strom, Charles M. ;
Rabinowitz, Matthew ;
Benn, Peter .
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2014, 211 (05)
[4]   Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources [J].
de Leeuw, Nicole ;
Dijkhuizen, Trijnie ;
Hehir-Kwa, Jayne Y. ;
Carter, Nigel P. ;
Feuk, Lars ;
Firth, Helen V. ;
Kuhn, Robert M. ;
Ledbetter, David H. ;
Martin, Christa Lese ;
van Ravenswaaij-Arts, Conny M. A. ;
Scherer, Steven W. ;
Shams, Soheil ;
Van Vooren, Steven ;
Sijmons, Rolf ;
Swertz, Morris ;
Hastings, Ros .
HUMAN MUTATION, 2012, 33 (06) :930-940
[5]   American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants [J].
Kearney, Hutton M. ;
Thorland, Erik C. ;
Brown, Kerry K. ;
Quintero-Rivera, Fabiola ;
South, Sarah T. .
GENETICS IN MEDICINE, 2011, 13 (07) :680-685
[6]   Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing [J].
Lo, Y. M. Dennis .
REPRODUCTIVE BIOMEDICINE ONLINE, 2013, 27 (06) :593-598
[7]   Presence of fetal DNA in maternal plasma and serum [J].
Lo, YMD ;
Corbetta, N ;
Chamberlain, PF ;
Rai, V ;
Sargent, IL ;
Redman, CWG ;
Wainscoat, JS .
LANCET, 1997, 350 (9076) :485-487
[8]   Noninvasive Prenatal Methylomic Analysis by Genomewide Bisulfite Sequencing of Maternal Plasma DNA [J].
Lun, Fiona M. F. ;
Chiu, Rossa W. K. ;
Sun, Kun ;
Leung, Tak Y. ;
Jiang, Peiyong ;
Chan, K. C. Allen ;
Sun, Hao ;
Lo, Y. M. Dennis .
CLINICAL CHEMISTRY, 2013, 59 (11) :1583-1594
[9]   Cell-free DNA Analysis for Noninvasive Examination of Trisomy [J].
Norton, Mary E. ;
Jacobsson, Bo ;
Swamy, Geeta K. ;
Laurent, Louise C. ;
Ranzini, Angela C. ;
Brar, Herb ;
Tomlinson, Mark W. ;
Pereira, Leonardo ;
Spitz, Jean L. ;
Hollemon, Desiree ;
Cuckle, Howard ;
Musci, Thomas J. ;
Wapner, Ronald J. .
NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (17) :1589-1597
[10]   Whole-genome array as a first-line cytogenetic test in prenatal diagnosis [J].
Srebniak, M. I. ;
Van Opstal, D. ;
Joosten, M. ;
Diderich, K. E. M. ;
De Vries, F. A. T. ;
Riedijk, S. ;
Knapen, M. F. C. M. ;
Go, A. T. J. I. ;
Govaerts, L. C. P. ;
Galjaard, R-J H. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (04) :363-372