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ISSN: 2333-9721
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-  2017 

Non‐invasive prenatal screening for chromosomal abnormalities using circulating cell-free fetal DNA in maternal plasma: Current applications, limitations and prospects

Keywords: Searches of PubMed were performed, being restricted to English-language publications and to humans. The search period was from January 2010 to July 2016. A total of 3416 citations were examined by title and abstract, 159 were analyzed integrally and a backward search of relevant studies led to the analyses of an additional 67 articles.

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Abstract:

Background: Prenatal screening for chromosomal aneuploidies was initiated in the 1970s, based in maternal age. With the introduction of serum and ultrasound biomarkers, new screening methodologies, with higher detection rates and lower false-positive rates, were implemented. More recently, cell-free fetal DNA testing was presented as a non-invasive test that uses maternal plasma to obtain fetal DNA in order to search for fetal aneuploidies or other chromosomal imbalances.

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