ArticleOpen biology2012
Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA.
Article in Open biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Tracing the tissue origin of cell-free DNA through open chromatin footprint.Communications biology · 2025Article
- Cervical EVT isolation for non-invasive fetal HLA typing in early pregnancy is limited by purity and maternal cell contamination; a methodological comparison.Frontiers in immunology · 2025Article
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Neutrophil extracellular traps have auto-catabolic activity and produce mononucleosome-associated circulating DNA.Genome medicine · 2022Article
- A novel approach to stabilize fetal cell-free DNA fraction in maternal blood samples for extended period of time.PloS one · 2018Article
- Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.BMC health services research · 2017Article
- Trophoblast Retrieval and Isolation From the Cervix for Noninvasive, First Trimester, Fetal Gender Determination in a Carrier of Congenital Adrenal Hyperplasia.Reproductive sciences (Thousand Oaks, Calif.) · 2016Article
- Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome.BioMed research international · 2016Article
- Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening.European journal of human genetics : EJHG · 2014Article
- Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.Journal of clinical medicine · 2014Article
- Pregnancy Loss Following Amniocentesis or CVS Sampling-Time for a Reassessment of Risk.Journal of clinical medicine · 2014Article
- Trophoblast retrieval and isolation from the cervix (TRIC) for noninvasive prenatal screening at 5 to 20 weeks of gestation.Fertility and sterility · 2014Article
- Getting to know the fetal genome non-invasively: now a reality.Protein & cell · 2012Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the detection of the presence of a trisomic foetus, as long as enough molecules were counted. With the advent of massively parallel sequencing, millions or billions of DNA molecules can be readily counted. Using massively parallel sequencing, foetal trisomies 21, 13 and 18 have been detected from maternal plasma. Recently, large-scale clinical studies have validated the robustness of this approach for the prenatal detection of foetal chromosomal aneuploidies. A proof-of-concept study has also shown that a genome-wide genetic and mutational map of a foetus can be constructed from the maternal plasma DNA sequencing data. These developments suggest that the analysis of foetal DNA in maternal plasma would play an increasingly important role in future obstetrics practice. It is thus a priority that the ethical, social and legal issues regarding this technology be systematically studied.
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Registered trials
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