Journal
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
Volume 15, Issue 1, Pages 111-124Publisher
TAYLOR & FRANCIS AS
DOI: 10.1586/14737159.2015.973857
Keywords
depth of coverage; NGS; NIPT; noninvasive; prenatal; whole genome sequencing
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Funding
- Prenatal Screening Foundation Nijmegen Region, the Netherlands
- European Commission-European Research Council [281964]
- European Research Council (ERC) [281964] Funding Source: European Research Council (ERC)
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Noninvasive prenatal testing (NIPT) for fetal aneuploidies using cell-free fetal DNA in maternal plasma has revolutionized the field of prenatal care and methods using massively parallel sequencing are now being implemented almost worldwide. Substantial progress has been made from initially testing for (an)euploidies of chromosomes 13, 18 and 21, to testing for sex chromosome (an)euploidies, additional autosomal aneuploidies as well as partial deletions and duplications genome-wide. Although NIPT is associated with significantly reduced risks for the fetus in comparison to existing invasive prenatal diagnostic methods, it presents several implementation challenges. Here, we review key issues potentially influencing NIPT and illustrate them using both data from literature and in-house data.
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