期刊
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
卷 26, 期 5, 页码 639-654出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.bpobgyn.2012.03.004
关键词
aneuploidy; cell free fetal DNA; non-invasive prenatal diagnosis; single-gene disorders
资金
- European Commission (Framework 6) Special Non-Invasive Advances in Fetal and Neonatal Evaluation (SAFE) Network of Excellence [LSHCT-2004-503241]
- National Institute for Health Research (NIHR) under its Programme Grants for Applied Research scheme [RP-PG-0707-10107]
- Central and East London NIHR Comprehensive Local Research Network
- NIHR Biomedical Research Centre at University College NHS Foundation Trust and University College London
- Great Ormond Street Hospital Children's Charity
- Great Ormond Street Hospital Childrens Charity [V1253] Funding Source: researchfish
- National Institute for Health Research [RP-PG-0707-10107] Funding Source: researchfish
For over a decade, researchers have focused their attention on the development of non-invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood. With the possibility of earlier and safer testing, non-invasive prenatal diagnosis has the potential to bring many positive benefits to prenatal diagnosis. Non-invasive prenatal diagnosis for fetal sex determination for women who are carriers of sex-linked conditions is now firmly established in clinical practice. Other non-invasive prenatal diagnosis-based tests are set to follow, as future applications, such as the detection of single-gene disorders and chromosomal abnormalities, are now well within reach. Here, we review recent developments in non-invasive prenatal diagnosis for genetic conditions and chromosomal abnormalities, and provide an overview of research into ethical concerns, social issues and stake-holder view points. (c) 2012 Elsevier Ltd. All rights reserved.
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